Dryja, Thaddeus
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first name: Thaddeus
last name: Dryja
coauthor of: Grosskreutz, Cynthia
coauthor of: Walton, David
coauthor of: Kim, Ivana
coauthor of: Pierce, Eric
coauthor of: Wolkow, Natalie
full name: Thaddeus Peter Dryja, M.D.
has faculty rank: Full Professor
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Person ID: 68112
person in primary position: Professor of Ophthalmology
physical neighbor: Borboli-Gerogiannis, Sheila
physical neighbor: Brauner, Stacey
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physical neighbor: Comander, Jason
physical neighbor: Karmali, Faisal
similar to: Alkuraya, Fowzan
similar to: Cepko, Constance
similar to: Pierce, Eric
similar to: Fulton, Anne
similar to: Bujakowska, Kinga
type: Agent
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selected publications: Authorship 1569403
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Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
PubMed Identifier: 1418997
author list: Olsson JE, Gordon JW, Pawlyk BS, Roof D, Hayes A, Molday RS, Mukai S, Cowley GS, Berson EL, Dryja TP
published in: Neuron
information resource reference: Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992 Nov; 9(5):815-30.
journal title abbreviation: Neuron
publication date: 1992-11-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Null RPGRIP1 alleles in patients with Leber congenital amaurosis.
PubMed Identifier: 11283794
author list: Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL
published in: American journal of human genetics
information resource reference: Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001 May; 68(5):1295-8.
journal title abbreviation: Am J Hum Genet
publication date: 2001-03-29T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1045461
type: Authorship
author rank in publication: 7
linked author: Dryja, Thaddeus
linked information resource: Induction of Ocular Complement Activation by Inflammatory Stimuli and Intraocular Inhibition of Complement Factor D in Animal Models.

Authorship 1046833
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Systemic Medication Associations with Presumed Advanced or Uncontrolled Primary Open-Angle Glaucoma.

Induction of Ocular Complement Activation by Inflammatory Stimuli and Intraocular Inhibition of Complement Factor D in Animal Models.
PubMed Identifier: 29450541
author list: Crowley MA, Delgado O, Will-Orrego A, Buchanan NM, Anderson K, Jaffee BD, Dryja TP, Liao SM
published in: Investigative ophthalmology & visual science
information resource reference: Induction of Ocular Complement Activation by Inflammatory Stimuli and Intraocular Inhibition of Complement Factor D in Animal Models. Invest Ophthalmol Vis Sci. 2018 02 01; 59(2):940-951.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2018-02-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Systemic Medication Associations with Presumed Advanced or Uncontrolled Primary Open-Angle Glaucoma.
PubMed Identifier: 29433851
author list: Zheng W, Dryja TP, Wei Z, Song D, Tian H, Kahler KH, Khawaja AP
published in: Ophthalmology
information resource reference: Systemic Medication Associations with Presumed Advanced or Uncontrolled Primary Open-Angle Glaucoma. Ophthalmology. 2018 07; 125(7):984-993.
journal title abbreviation: Ophthalmology
publication date: 2018-02-09T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.
PubMed Identifier: 10338096
author list: Fujita T, Ohtani-Fujita N, Sakai T, Rapaport JM, Dryja TP, Kato MV, Ishizaki K, Sasaki MS, Hotta Y, Maeda K, Kinoshita S, Ohnishi Y, Minoda K
published in: Human mutation
information resource reference: Low frequency of oncogenic mutations in the core promoter region of the RB1 gene. Hum Mutat. 1999; 13(5):410-1.
journal title abbreviation: Hum Mutat
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Understanding the etiology of Stargardt's disease.
PubMed Identifier: 12064087
author list: Glazer LC, Dryja TP
published in: Ophthalmology clinics of North America
information resource reference: Understanding the etiology of Stargardt's disease. Ophthalmol Clin North Am. 2002 Mar; 15(1):93-100, viii.
journal title abbreviation: Ophthalmol Clin North Am
publication date: 2002-03-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Glial cell component in retinoblastoma.
PubMed Identifier: 3891392
author list: Craft JL, Sang DN, Dryja TP, Brockhurst RJ, Robinson NL, Albert DM
published in: Experimental eye research
information resource reference: Glial cell component in retinoblastoma. Exp Eye Res. 1985 May; 40(5):647-59.
journal title abbreviation: Exp Eye Res
publication date: 1985-05-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus.
PubMed Identifier: 6210139
author list: Lalande M, Dryja TP, Schreck RR, Shipley J, Flint A, Latt SA
published in: Cancer genetics and cytogenetics
information resource reference: Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus. Cancer Genet Cytogenet. 1984 Dec; 13(4):283-95.
journal title abbreviation: Cancer Genet Cytogenet
publication date: 1984-12-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
PubMed Identifier: 8202715
author list: Kajiwara K, Berson EL, Dryja TP
published in: Science (New York, N.Y.)
information resource reference: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994 Jun 10; 264(5165):1604-8.
journal title abbreviation: Science
publication date: 1994-06-10T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
PubMed Identifier: 8599155
author list: Ciulla TA, Tolentino F, Morrow JF, Dryja TP
published in: Survey of ophthalmology
information resource reference: Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation. Surv Ophthalmol. 1995 Nov-Dec; 40(3):197-206.
journal title abbreviation: Surv Ophthalmol
publication date: 1995-11-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Gene-based approach to human gene-phenotype correlations.
PubMed Identifier: 9342372
author list: Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Gene-based approach to human gene-phenotype correlations. Proc Natl Acad Sci U S A. 1997 Oct 28; 94(22):12117-21.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1997-10-28T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
PubMed Identifier: 9462750
author list: Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet. 1998 Feb; 18(2):174-6.
journal title abbreviation: Nat Genet
publication date: 1998-02-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures.
PubMed Identifier: 9751768
author list: Li T, Sandberg MA, Pawlyk BS, Rosner B, Hayes KC, Dryja TP, Berson EL
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. Proc Natl Acad Sci U S A. 1998 Sep 29; 95(20):11933-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1998-09-29T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance.
PubMed Identifier: 8001983
author list: Kim SK, Haines JL, Berson EL, Dryja TP
published in: Genomics
information resource reference: Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. Genomics. 1994 Aug; 22(3):659-660.
journal title abbreviation: Genomics
publication date: 1994-08-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector.
PubMed Identifier: 8163343
author list: Li T, Adamian M, Roof DJ, Berson EL, Dryja TP, Roessler BJ, Davidson BL
published in: Investigative ophthalmology & visual science
information resource reference: In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector. Invest Ophthalmol Vis Sci. 1994 Apr; 35(5):2543-9.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1994-04-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
PubMed Identifier: 2137202
author list: Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL
published in: Nature
information resource reference: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25; 343(6256):364-6.
journal title abbreviation: Nature
publication date: 1990-01-25T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 2-2002- a 58-year-old woman with unilateral loss of vision and postmenopausal bleeding.
PubMed Identifier: 11796854
author list: D'Amico DJ, Dryja T
published in: The New England journal of medicine
information resource reference: Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 2-2002- a 58-year-old woman with unilateral loss of vision and postmenopausal bleeding. N Engl J Med. 2002 Jan 17; 346(3):189-95.
journal title abbreviation: N Engl J Med
publication date: 2002-01-17T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations.
PubMed Identifier: 12202526
author list: Berson EL, Rosner B, Weigel-DiFranco C, Dryja TP, Sandberg MA
published in: Investigative ophthalmology & visual science
information resource reference: Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci. 2002 Sep; 43(9):3027-36.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2002-09-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1057203
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Lens regeneration in children.

Lens regeneration in children.
PubMed Identifier: 29620729
author list: Vavvas DG, Dryja TP, Wilson ME, Olsen TW, Shah A, Jurkunas U, Pineda R, Poulaki V, Palioura S, Veldman P, Moreno-Montañés J, Pinazo-Duran MD, Pastor JC, Tsilimbaris M, Rhee D, Colby K, Hunter DG, Thanos S, Sakamoto T, Pasquale LR, Miller JW, VanderVeen D, Lambert SR
published in: Nature
information resource reference: Lens regeneration in children. Nature. 2018 04 04; 556(7699):E2-E3.
journal title abbreviation: Nature
publication date: 2018-04-04T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

PCR detection of the Tth 111 I RFLP at the RB locus.
PubMed Identifier: 1975683
author list: Vaughn GL, Toguchida J, McGee TL, Dryja TP
published in: Nucleic acids research
information resource reference: PCR detection of the Tth 111 I RFLP at the RB locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4965.
journal title abbreviation: Nucleic Acids Res
publication date: 1990-08-25T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.
PubMed Identifier: 2877398
author list: Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP
published in: Nature
information resource reference: A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16-22; 323(6089):643-6.
journal title abbreviation: Nature
publication date: 1986-10-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Lacrimal gland tumors: a clinicopathological analysis of 160 cases.
PubMed Identifier: 6277818
author list: Ni C, Cheng SC, Dryja TP, Cheng TY
published in: International ophthalmology clinics
information resource reference: Lacrimal gland tumors: a clinicopathological analysis of 160 cases. Int Ophthalmol Clin. 1982; 22(1):99-120.
journal title abbreviation: Int Ophthalmol Clin
publication date: 1982-01-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

Retrieval of human DNA from rodent-human genomic libraries by a recombination process.
PubMed Identifier: 6628996
author list: Neve RL, Bruns GA, Dryja TP, Kurnit DM
published in: Gene
information resource reference: Retrieval of human DNA from rodent-human genomic libraries by a recombination process. Gene. 1983 Sep; 23(3):343-54.
journal title abbreviation: Gene
publication date: 1983-09-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Homozygosity of chromosome 13 in retinoblastoma.
PubMed Identifier: 6694706
author list: Dryja TP, Cavenee W, White R, Rapaport JM, Petersen R, Albert DM, Bruns GA
published in: The New England journal of medicine
information resource reference: Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med. 1984 Mar 01; 310(9):550-3.
journal title abbreviation: N Engl J Med
publication date: 1984-03-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
PubMed Identifier: 17438524
author list: Sweeney MO, McGee TL, Berson EL, Dryja TP
published in: Molecular vision
information resource reference: Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Mol Vis. 2007 Apr 05; 13:588-93.
journal title abbreviation: Mol Vis
publication date: 2007-04-05T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Human genetics. Deficiencies in sight with the candidate gene approach.
PubMed Identifier: 2215691
author list: Dryja TP
published in: Nature
information resource reference: Human genetics. Deficiencies in sight with the candidate gene approach. Nature. 1990 Oct 18; 347(6294):614.
journal title abbreviation: Nature
publication date: 1990-10-18T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Parental origin of mutations of the retinoblastoma gene.
PubMed Identifier: 2733786
author list: Dryja TP, Mukai S, Petersen R, Rapaport JM, Walton D, Yandell DW
published in: Nature
information resource reference: Parental origin of mutations of the retinoblastoma gene. Nature. 1989 Jun 15; 339(6225):556-8.
journal title abbreviation: Nature
publication date: 1989-06-15T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
PubMed Identifier: 12427073
author list: Rivolta C, Berson EL, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol. 2002 Nov; 120(11):1566-71.
journal title abbreviation: Arch Ophthalmol
publication date: 2002-11-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.
PubMed Identifier: 7724596
author list: Li T, Franson WK, Gordon JW, Berson EL, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration. Proc Natl Acad Sci U S A. 1995 Apr 11; 92(8):3551-5.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1995-04-11T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
PubMed Identifier: 15325563
author list: Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP
published in: Experimental eye research
information resource reference: Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res. 2004 Aug; 79(2):167-73.
journal title abbreviation: Exp Eye Res
publication date: 2004-08-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
PubMed Identifier: 11748842
author list: Rivolta C, Berson EL, Dryja TP
published in: Human mutation
information resource reference: Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Hum Mutat. 2001 Dec; 18(6):488-98.
journal title abbreviation: Hum Mutat
publication date: 2001-12-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.
PubMed Identifier: 12037007
author list: Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. Invest Ophthalmol Vis Sci. 2002 Jun; 43(6):1971-9.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2002-06-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Elemental analysis of melanins from bovine hair, iris, choroid, and retinal pigment epithelium.
PubMed Identifier: 422329
author list: Dryja TP, O'Neil-Dryja M, Albert DM
published in: Investigative ophthalmology & visual science
information resource reference: Elemental analysis of melanins from bovine hair, iris, choroid, and retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1979 Mar; 18(3):231-6.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1979-03-01T00:00:00
year: 1979
type: Academic Article
type: Article
type: Document
type: Information Resource

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
PubMed Identifier: 8485575
author list: Kajiwara K, Sandberg MA, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet. 1993 Mar; 3(3):208-12.
journal title abbreviation: Nat Genet
publication date: 1993-03-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1169
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.

Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
PubMed Identifier: 18949499
author list: Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M
published in: Documenta ophthalmologica. Advances in ophthalmology
information resource reference: Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. Doc Ophthalmol. 2009 Jun; 118(3):233-8.
journal title abbreviation: Doc Ophthalmol
publication date: 2008-10-24T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations.
PubMed Identifier: 3012798
author list: Yandell DW, Dryja TP, Little JB
published in: Somatic cell and molecular genetics
information resource reference: Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations. Somat Cell Mol Genet. 1986 May; 12(3):255-63.
journal title abbreviation: Somat Cell Mol Genet
publication date: 1986-05-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosome 13 restriction fragment length polymorphisms.
PubMed Identifier: 6319270
author list: Dryja TP, Rapaport JM, Weichselbaum R, Bruns GA
published in: Human genetics
information resource reference: Chromosome 13 restriction fragment length polymorphisms. Hum Genet. 1984; 65(4):320-4.
journal title abbreviation: Hum Genet
publication date: 1984-01-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.
PubMed Identifier: 8125719
author list: Hahn LB, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994 Mar; 35(3):1077-82.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1994-03-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma.
PubMed Identifier: 3006911
author list: Mukai S, Dryja TP
published in: Cancer genetics and cytogenetics
information resource reference: Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma. Cancer Genet Cytogenet. 1986 May; 22(1):45-53.
journal title abbreviation: Cancer Genet Cytogenet
publication date: 1986-05-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 116495
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley.

Low incidence of deletion of the esterase D locus in retinoblastoma patients.
PubMed Identifier: 6885050
author list: Dryja TP, Bruns GA, Gallie B, Petersen R, Green W, Rapaport JM, Albert DM, Gerald PS
published in: Human genetics
information resource reference: Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum Genet. 1983; 64(2):151-5.
journal title abbreviation: Hum Genet
publication date: 1983-01-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Epidemikological investigation of increased incidence of choroidal melanoma in a single population of chemical workers.
PubMed Identifier: 6995393
author list: Albert DM, Robinson NL, Fulton AB, Zakov ZN, Dryja TP, Puliafito CA, Smith AB, Egan EA
published in: International ophthalmology clinics
information resource reference: Epidemikological investigation of increased incidence of choroidal melanoma in a single population of chemical workers. Int Ophthalmol Clin. 1980; 20(2):71-92.
journal title abbreviation: Int Ophthalmol Clin
publication date: 1980-01-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

Demonstration of tyrosinase in the adult bovine uveal tract and retinal pigment epithelium.
PubMed Identifier: 96039
author list: Dryja TP, O'Neil-Dryja M, Pawelek JM, Albert DM
published in: Investigative ophthalmology & visual science
information resource reference: Demonstration of tyrosinase in the adult bovine uveal tract and retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1978 Jun; 17(6):511-4.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1978-06-01T00:00:00
year: 1978
type: Academic Article
type: Article
type: Document
type: Information Resource

Orientation of pi-allyl ligand in pi-cyclopentadienyl and pi-idenyl complexes of iron and ruthenium
author list: Faller JW, Johnson BV, Dryja TP
published in: J Organomet Chem
information resource reference: Orientation of pi-allyl ligand in pi-cyclopentadienyl and pi-idenyl complexes of iron and ruthenium. J Organomet Chem. 1974; 65:395-397.
publication date: 1974-01-01T00:00:00
year: 1974
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage of genes for human esterase D and hereditary retinoblastoma.
PubMed Identifier: 6731533
author list: Mukai S, Rapaport JM, Shields JA, Augsburger JJ, Dryja TP
published in: American journal of ophthalmology
information resource reference: Linkage of genes for human esterase D and hereditary retinoblastoma. Am J Ophthalmol. 1984 Jun; 97(6):681-5.
journal title abbreviation: Am J Ophthalmol
publication date: 1984-06-01T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.
PubMed Identifier: 7635666
author list: Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1995 Aug; 36(9):1934-42.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1995-08-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.
PubMed Identifier: 7775097
author list: Dryja TP, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity. Invest Ophthalmol Vis Sci. 1995 Jun; 36(7):1197-200.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1995-06-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Complete genomic sequence of the human retinoblastoma susceptibility gene.
PubMed Identifier: 7902321
author list: Toguchida J, McGee TL, Paterson JC, Eagle JR, Tucker S, Yandell DW, Dryja TP
published in: Genomics
information resource reference: Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics. 1993 Sep; 17(3):535-43.
journal title abbreviation: Genomics
publication date: 1993-09-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of the XbaI RFLP within the retinoblastoma locus by PCR.
PubMed Identifier: 1968623
author list: McGee TL, Cowley GS, Yandell DW, Dryja TP
published in: Nucleic acids research
information resource reference: Detection of the XbaI RFLP within the retinoblastoma locus by PCR. Nucleic Acids Res. 1990 Jan 11; 18(1):207.
journal title abbreviation: Nucleic Acids Res
publication date: 1990-01-11T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
PubMed Identifier: 15937078
author list: Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
published in: Journal of medical genetics
information resource reference: Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet. 2005 Jun; 42(6):e38.
journal title abbreviation: J Med Genet
publication date: 2005-06-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
PubMed Identifier: 8088850
author list: Vaithinathan R, Berson EL, Dryja TP
published in: Genomics
information resource reference: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics. 1994 May 15; 21(2):461-3.
journal title abbreviation: Genomics
publication date: 1994-05-15T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Visual acuity development in tyrosinase negative oculocutaneous albinism.
PubMed Identifier: 6425027
author list: Jacobson SG, Mohindra I, Held R, Dryja TP, Albert DM
published in: Documenta ophthalmologica. Advances in ophthalmology
information resource reference: Visual acuity development in tyrosinase negative oculocutaneous albinism. Doc Ophthalmol. 1984 Feb 29; 56(4):337-44.
journal title abbreviation: Doc Ophthalmol
publication date: 1984-02-29T00:00:00
year: 1984
type: Academic Article
type: Article
type: Document
type: Information Resource

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
PubMed Identifier: 9331261
author list: Dryja TP, Hahn LB, Kajiwara K, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997 Sep; 38(10):1972-82.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1997-09-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma.
PubMed Identifier: 6877367
author list: Godbout R, Dryja TP, Squire J, Gallie BL, Phillips RA
published in: Nature
information resource reference: Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature. 1983 Aug 4-10; 304(5925):451-3.
journal title abbreviation: Nature
publication date: 1983-08-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Sweat gland tumors in the eyelids: a clinicopathological analysis of 55 cases.
PubMed Identifier: 6277816
author list: Ni C, Dryja TP, Albert DM
published in: International ophthalmology clinics
information resource reference: Sweat gland tumors in the eyelids: a clinicopathological analysis of 55 cases. Int Ophthalmol Clin. 1982; 22(1):1-22.
journal title abbreviation: Int Ophthalmol Clin
publication date: 1982-01-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

Two families from New England with usher syndrome type IC with distinct haplotypes.
PubMed Identifier: 11239869
author list: DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP
published in: American journal of ophthalmology
information resource reference: Two families from New England with usher syndrome type IC with distinct haplotypes. Am J Ophthalmol. 2001 Mar; 131(3):355-8.
journal title abbreviation: Am J Ophthalmol
publication date: 2001-03-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.
PubMed Identifier: 12140048
author list: To K, Adamian M, Dryja TP, Berson EL
published in: American journal of ophthalmology
information resource reference: Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol. 2002 Aug; 134(2):290-3.
journal title abbreviation: Am J Ophthalmol
publication date: 2002-08-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.
PubMed Identifier: 1881452
author list: Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP
published in: Nature
information resource reference: Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature. 1991 Sep 05; 353(6339):83-6.
journal title abbreviation: Nature
publication date: 1991-09-05T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.
PubMed Identifier: 6633649
author list: Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL
published in: Nature
information resource reference: Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature. 1983 Oct 27-Nov 2; 305(5937):779-84.
journal title abbreviation: Nature
publication date: 1983-10-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Unbiased transmission of mutant alleles at the human retinoblastoma locus.
PubMed Identifier: 8005586
author list: Seminara SB, Dryja TP
published in: Human genetics
information resource reference: Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34.
journal title abbreviation: Hum Genet
publication date: 1994-06-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Presence of cysteinyldopa in the mature bovine eye.
PubMed Identifier: 598423
author list: Dryja TP, Albert DM, Rosengren E, Reid TW
published in: Experimental eye research
information resource reference: Presence of cysteinyldopa in the mature bovine eye. Exp Eye Res. 1977 Nov; 25(5):459-64.
journal title abbreviation: Exp Eye Res
publication date: 1977-11-01T00:00:00
year: 1977
type: Academic Article
type: Article
type: Document
type: Information Resource

Retinitis pigmentosa and the rhodopsin gene.
PubMed Identifier: 8325735
author list: Shokravi MT, Dryja TP
published in: International ophthalmology clinics
information resource reference: Retinitis pigmentosa and the rhodopsin gene. Int Ophthalmol Clin. 1993; 33(2):219-28.
journal title abbreviation: Int Ophthalmol Clin
publication date: 1993-01-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Conjunctival non-caseating granulomas in a human immunodeficiency virus (HIV) positive patient attributed to sarcoidosis.
PubMed Identifier: 17056466
author list: Papadaki TG, Kafkala C, Zacharopoulos IP, Seyedahmadi B J, Dryja T, Foster CS
published in: Ocular immunology and inflammation
information resource reference: Conjunctival non-caseating granulomas in a human immunodeficiency virus (HIV) positive patient attributed to sarcoidosis. Ocul Immunol Inflamm. 2006 Oct; 14(5):309-11.
journal title abbreviation: Ocul Immunol Inflamm
publication date: 2006-10-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Solitary myofibroma of the sclera.
PubMed Identifier: 17198028
author list: Choopong P, Nielsen PG, Perlman EM, Huang JJ, Dryja TP, Foster CS
published in: Cornea
information resource reference: Solitary myofibroma of the sclera. Cornea. 2007 Jan; 26(1):114-6.
journal title abbreviation: Cornea
publication date: 2007-01-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein.
PubMed Identifier: 2671991
author list: Bernards R, Shackleford GM, Schackleford GM, Gerber MR, Horowitz JM, Friend SH, Schartl M, Bogenmann E, Rapaport JM, McGee T, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein. Proc Natl Acad Sci U S A. 1989 Sep; 86(17):6474-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1989-09-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.
PubMed Identifier: 4025464
author list: Mukai S, Dryja TP, Bruns GA, Aldridge JF, Berson EL
published in: American journal of ophthalmology
information resource reference: Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. Am J Ophthalmol. 1985 Aug 15; 100(2):225-9.
journal title abbreviation: Am J Ophthalmol
publication date: 1985-08-15T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
PubMed Identifier: 7558711
author list: Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation. Invest Ophthalmol Vis Sci. 1995 Oct; 36(11):2186-92.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1995-10-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.
PubMed Identifier: 7891370
author list: Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP
published in: Journal of medical genetics
information resource reference: Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous. J Med Genet. 1994 Dec; 31(12):903-15.
journal title abbreviation: J Med Genet
publication date: 1994-12-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
PubMed Identifier: 10937588
author list: Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol Vis Sci. 2000 Aug; 41(9):2712-21.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2000-08-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
PubMed Identifier: 11078833
author list: Dryja TP
published in: American journal of ophthalmology
information resource reference: Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol. 2000 Nov; 130(5):547-63.
journal title abbreviation: Am J Ophthalmol
publication date: 2000-11-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.
PubMed Identifier: 11124299
author list: To K, Adamian M, Dryja TP, Berson EL
published in: American journal of ophthalmology
information resource reference: Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys. Am J Ophthalmol. 2000 Dec; 130(6):790-2.
journal title abbreviation: Am J Ophthalmol
publication date: 2000-12-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
PubMed Identifier: 17167406
author list: Mylvaganam GH, McGee TL, Berson EL, Dryja TP
published in: Molecular vision
information resource reference: A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. Mol Vis. 2006 Dec 04; 12:1496-8.
journal title abbreviation: Mol Vis
publication date: 2006-12-04T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
PubMed Identifier: 17896311
author list: Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP
published in: Ophthalmic genetics
information resource reference: Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet. 2007 Sep; 28(3):135-42.
journal title abbreviation: Ophthalmic Genet
publication date: 2007-09-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration.
PubMed Identifier: 18704199
author list: Kim IK, Ji F, Morrison MA, Adams S, Zhang Q, Lane AM, Capone A, Dryja TP, Ott J, Miller JW, DeAngelis MM
published in: Molecular vision
information resource reference: Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration. Mol Vis. 2008 Aug 11; 14:1487-95.
journal title abbreviation: Mol Vis
publication date: 2008-08-11T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
PubMed Identifier: 20507924
author list: McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
published in: Journal of medical genetics
information resource reference: Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul; 47(7):499-506.
journal title abbreviation: J Med Genet
publication date: 2010-05-27T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.
PubMed Identifier: 2876425
author list: Dryja TP, Rapaport JM, Joyce JM, Petersen RA
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas. Proc Natl Acad Sci U S A. 1986 Oct; 83(19):7391-4.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1986-10-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Recent studies of the retinoblastoma gene. What it means to the ophthalmologist.
PubMed Identifier: 3422555
author list: Albert DM, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Recent studies of the retinoblastoma gene. What it means to the ophthalmologist. Arch Ophthalmol. 1988 Feb; 106(2):181-2.
journal title abbreviation: Arch Ophthalmol
publication date: 1988-02-01T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization.
PubMed Identifier: 4065891
author list: Dryja TP, Morton CC
published in: Human genetics
information resource reference: Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization. Hum Genet. 1985; 71(3):192-5.
journal title abbreviation: Hum Genet
publication date: 1985-01-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.
PubMed Identifier: 8099255
author list: Dryja TP, Rapaport J, McGee TL, Nork TM, Schwartz TL
published in: American journal of human genetics
information resource reference: Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am J Hum Genet. 1993 Jun; 52(6):1122-8.
journal title abbreviation: Am J Hum Genet
publication date: 1993-06-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Otolaryngology Head and Neck Surgery
type: Department
type: Organization

Retinal Degeneration
MeSH DescriptorUI: D012162
MeSH semantic group name: Disorders
number of authors: 170
number of publications: 426
uniqueness weight: 0.724994
type: Concept

Eye Proteins
MeSH DescriptorUI: D005136
MeSH semantic group name: Chemicals & Drugs
number of authors: 271
number of publications: 603
uniqueness weight: 0.764407
type: Concept

Retinoblastoma
MeSH DescriptorUI: D012175
MeSH semantic group name: Disorders
number of authors: 126
number of publications: 333
uniqueness weight: 0.790539
type: Concept

Authorship 115550
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Epidemikological investigation of increased incidence of choroidal melanoma in a single population of chemical workers.

Rhodopsin
MeSH DescriptorUI: D012243
MeSH semantic group name: Chemicals & Drugs
number of authors: 75
number of publications: 187
uniqueness weight: 0.920775
type: Concept

Retinitis Pigmentosa
MeSH DescriptorUI: D012174
MeSH semantic group name: Disorders
number of authors: 120
number of publications: 414
uniqueness weight: 0.748189
type: Concept

Authorship 1150038
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open-Angle Glaucoma.

Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open-Angle Glaucoma.
PubMed Identifier: 31038730
author list: Wang SV, Li N, Rice DS, Grosskreutz CL, Dryja TP, Prasanna G, Lii J, Gagne JJ
published in: Clinical pharmacology and therapeutics
information resource reference: Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open-Angle Glaucoma. Clin Pharmacol Ther. 2019 10; 106(4):874-883.
journal title abbreviation: Clin Pharmacol Ther
publication date: 2019-06-14T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetics
type: Department
type: Organization

Ophthalmology
type: Department
type: Organization

Pediatrics
type: Department
type: Organization

Genetics
type: Division
type: Organization

Boston Children's Hospital
type: Organization

Harvard Medical School
type: Organization

Massachusetts Eye and Ear Infirmary
type: Organization

Kim, Ivana
eCommons Login: IKK1
first name: Ivana
last name: Kim
full name: Ivana Kyung Kim, M.D.
has faculty rank: Associate Professor
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Person ID: 34013
person in primary position: Associate Professor of Ophthalmology
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Grosskreutz, Cynthia
eCommons Login: CLG1
first name: Cynthia
last name: Grosskreutz
full name: Cynthia Lee Grosskreutz, M.D.,Ph.D.
has faculty rank: Associate Professor
latitude: 42.36253200000000
longitude: -71.07031000000000
Person ID: 50211
person in primary position: Associate Professor of Ophthalmology, Part-time
type: Agent
type: Person
preferred title: Associate Professor of Ophthalmology, Part-time

Borboli-Gerogiannis, Sheila
eCommons Login: SB12
first name: Sheila
last name: Borboli-Gerogiannis
full name: Sheila Borboli-Gerogiannis, M.D.
has faculty rank: Assistant Professor
latitude: 42.36253200000000
longitude: -71.07031000000000
Person ID: 5229
person in primary position: Assistant Professor of Ophthalmology
type: Agent
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preferred title: Assistant Professor of Ophthalmology

Pierce, Eric
eCommons Login: EAP3
first name: Eric
last name: Pierce
full name: Eric Adam Pierce, M.D., Ph.D.
has faculty rank: Full Professor
Person ID: 28673
person in primary position: William F. Chatlos Professor of Ophthalmology
type: Agent
type: Person
preferred title: William F. Chatlos Professor of Ophthalmology

Bujakowska, Kinga
eCommons Login: KMB55
first name: Kinga
last name: Bujakowska
full name: Kinga Maria Bujakowska, Ph.D.
has faculty rank: Assistant Professor
Person ID: 112483
person in primary position: Assistant Professor of Ophthalmology
type: Agent
type: Person
preferred title: Assistant Professor of Ophthalmology

Authorship 120323
type: Authorship
author rank in publication: 6
linked author: Dryja, Thaddeus
linked information resource: Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.

Cepko, Constance
eCommons Login: CLC6
first name: Constance
last name: Cepko
full name: Constance Cepko, Ph.D.
has faculty rank: Full Professor
latitude: 42.33837200000000
longitude: -71.10326900000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 31308
person in primary position: Bullard Professor of Genetics and Neuroscience
type: Agent
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preferred title: Bullard Professor of Genetics and Neuroscience

Authorship 1157577
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma.

A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma.
PubMed Identifier: 31146616
author list: Cortes Barrantes P, Jakobiec FA, Dryja TP
published in: Seminars in ophthalmology
information resource reference: A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma. Semin Ophthalmol. 2019; 34(4):243-251.
journal title abbreviation: Semin Ophthalmol
publication date: 2019-05-30T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Comander, Jason
eCommons Login: JIC1
first name: Jason
last name: Comander
full name: Jason Comander, M.D., Ph.D.
has faculty rank: Associate Professor
latitude: 42.36253200000000
longitude: -71.07031000000000
Person ID: 25490
person in primary position: Associate Professor of Ophthalmology
type: Agent
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preferred title: Associate Professor of Ophthalmology

Chang, Han Ying
eCommons Login: HPC2
first name: Han Ying
last name: Chang
full name: Han Ying Peggy Chang, M.D.
has faculty rank: Assistant Professor
latitude: 42.36253200000000
longitude: -71.07031000000000
Person ID: 25904
person in primary position: Assistant Professor of Ophthalmology
type: Agent
type: Person
preferred title: Assistant Professor of Ophthalmology

Authorship 1159245
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases.

A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases.
PubMed Identifier: 31170015
author list: Ma L, Jakobiec FA, Dryja TP
published in: Seminars in ophthalmology
information resource reference: A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases. Semin Ophthalmol. 2019; 34(4):223-231.
journal title abbreviation: Semin Ophthalmol
publication date: 2019-06-06T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Brauner, Stacey
eCommons Login: SB59
first name: Stacey
last name: Brauner
full name: Stacey Brauner, M.D.
has faculty rank: Instructor
latitude: 42.36253200000000
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Person ID: 57529
person in primary position: Instructor in Ophthalmology
type: Agent
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preferred title: Instructor in Ophthalmology

Alkuraya, Fowzan
eCommons Login: FSA2
first name: Fowzan
last name: Alkuraya
full name: Fowzan Sami Alkuraya, M.B.,B.S.
has faculty rank: Instructor
latitude: 42.33837200000000
longitude: -71.10326900000000
Person ID: 41121
person in primary position: Instructor in Pediatrics
type: Agent
type: Person
preferred title: Instructor in Pediatrics

Walton, David
eCommons Login: DSW1
first name: David
last name: Walton
full name: David Sellers Walton, M.D.
has faculty rank: Full Professor
latitude: 42.36353920000000
longitude: -71.06452340000000
Person ID: 40174
person in primary position: Professor of Ophthalmology, Part-time
type: Agent
type: Person
preferred title: Professor of Ophthalmology, Part-time

Karmali, Faisal
eCommons Login: FK24
first name: Faisal
last name: Karmali
full name: Faisal Karmali, Ph.D.
has faculty rank: Assistant Professor
latitude: 42.36253200000000
longitude: -71.07031000000000
photo: https://connects.catalyst.harvard.edu/Profiles/profile/Modules/CustomViewPersonGeneralInfo/PhotoHandler.ashx
Person ID: 38542
person in primary position: Assistant Professor of Otolaryngology Head and Neck Surgery
type: Agent
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preferred title: Assistant Professor of Otolaryngology Head and Neck Surgery

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Fulton, Anne
eCommons Login: ABF1
first name: Anne
last name: Fulton
full name: Anne Bailey Fulton, M.D.
has faculty rank: Full Professor
latitude: 42.33743600000000
longitude: -71.10544700000000
Person ID: 81648
person in primary position: Professor of Ophthalmology
type: Agent
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Authorship 133723
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration.

Authorship 137161
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Authorship 132503
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Glial cell component in retinoblastoma.

Authorship 156047
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Solitary myofibroma of the sclera.

Authorship 145378
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Visual acuity development in tyrosinase negative oculocutaneous albinism.

Authorship 1201654
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Complement Proteins in the Retina in Cancer-Associated Retinopathy.

Complement Proteins in the Retina in Cancer-Associated Retinopathy.
PubMed Identifier: 31670788
author list: Dryja TP, Demirs JT, Twarog M, Lee V
published in: JAMA ophthalmology
information resource reference: Complement Proteins in the Retina in Cancer-Associated Retinopathy. JAMA Ophthalmol. 2019 12 01; 137(12):1458-1460.
journal title abbreviation: JAMA Ophthalmol
publication date: 2019-12-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1202891
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene.

The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene.
PubMed Identifier: 31683923
author list: Berry JL, Polski A, Cavenee WK, Dryja TP, Murphree AL, Gallie BL
published in: Genes
information resource reference: The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. Genes (Basel). 2019 11 01; 10(11).
journal title abbreviation: Genes (Basel)
publication date: 2019-11-01T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 118941
type: Authorship
author rank in publication: 6
linked author: Dryja, Thaddeus
linked information resource: Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.

Authorship 128368
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Predicting the risk of hereditary retinoblastoma.

Authorship 14630
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.

Authorship 1211844
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Isolated orbital amyloidosis causing internal and external ophthalmoplegia.

Isolated orbital amyloidosis causing internal and external ophthalmoplegia.
PubMed Identifier: 31830573
author list: Dodd MU, Wolkow N, Cunnane ME, Ma L, Dryja TP, Hunter D
published in: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
information resource reference: Isolated orbital amyloidosis causing internal and external ophthalmoplegia. J AAPOS. 2020 02; 24(1):48-51.e1.
journal title abbreviation: J AAPOS
publication date: 2019-12-09T00:00:00
year: 2019
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 121871
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: [Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma].

Authorship 172346
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.

Authorship 173481
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Authorship 200449
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Light stimulation of iris tyrosinase in vivo.

Authorship 1256680
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Molecular Genetics of Intraocular Tumors.

Molecular Genetics of Intraocular Tumors.
PubMed Identifier: 32507011
author list: Hanbazazh M, Dryja TP
published in: Seminars in ophthalmology
information resource reference: Molecular Genetics of Intraocular Tumors. Semin Ophthalmol. 2020 Apr 02; 35(3):174-181.
journal title abbreviation: Semin Ophthalmol
publication date: 2020-04-02T00:00:00
year: 2020
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 183330
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Rod and cone function in the Nougaret form of stationary night blindness.

Authorship 212740
type: Authorship
author rank in publication: 8
linked author: Dryja, Thaddeus
linked information resource: Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.

Authorship 159095
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Characterization and chromosomal localization of the gene for human rhodopsin kinase.

Authorship 141131
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.

Authorship 159335
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Mass cultivation of bovine ocular pigment epithelial cells in microcarrier suspension culture.

Authorship 138199
type: Authorship
author rank in publication: 7
linked author: Dryja, Thaddeus
linked information resource: Complete genomic sequence of the human retinoblastoma susceptibility gene.

Authorship 1326847
type: Authorship
author rank in publication: 14
linked author: Dryja, Thaddeus
linked information resource: Overlapping Immunohistochemical Features of Adenocarcinoma of the Nonpigmented Ciliary Body Epithelium and Renal Cell Carcinoma.

Overlapping Immunohistochemical Features of Adenocarcinoma of the Nonpigmented Ciliary Body Epithelium and Renal Cell Carcinoma.
PubMed Identifier: 33529584
author list: Hanbazazh M, Barrantes PC, DeVience E, Rana BA, Jadhav N, Gyure K, Grossniklaus HE, Thuro BA, Henneberry J, Milman T, Eagle RC, Shields CL, Shields JA, Dryja TP
published in: American journal of ophthalmology
information resource reference: Overlapping Immunohistochemical Features of Adenocarcinoma of the Nonpigmented Ciliary Body Epithelium and Renal Cell Carcinoma. Am J Ophthalmol. 2021 06; 226:191-200.
journal title abbreviation: Am J Ophthalmol
publication date: 2021-01-30T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 153869
type: Authorship
author rank in publication: 6
linked author: Dryja, Thaddeus
linked information resource: Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Authorship 146263
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Melanocytoma of the optic nerve associated with sound-induced phosphenes.

Authorship 167597
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

Authorship 160450
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.

Authorship 176598
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.

Authorship 1371494
type: Authorship
author rank in publication: 9
linked author: Dryja, Thaddeus
linked information resource: Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration.

Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration.
PubMed Identifier: 34160562
author list: Demirs JT, Yang J, Crowley MA, Twarog M, Delgado O, Qiu Y, Poor S, Rice DS, Dryja TP, Anderson K, Liao SM
published in: Investigative ophthalmology & visual science
information resource reference: Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):26.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2021-06-01T00:00:00
year: 2021
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 230000
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.

Authorship 316939
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

Authorship 320622
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

Authorship 328981
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Accuracy of detection of the retinoblastoma gene by esterase D linkage.

Authorship 1476816
type: Authorship
author rank in publication: 22
linked author: Dryja, Thaddeus
linked information resource: Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.

Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration.
PubMed Identifier: 35943778
author list: Crowley MA, Garland DL, Sellner H, Banks A, Fan L, Rejtar T, Buchanan N, Delgado O, Xu YY, Jose S, Adams CM, Mogi M, Wang K, Bigelow CE, Poor S, Anderson K, Jaffee BD, Prasanna G, Grosskreutz C, Fernandez-Godino R, Pierce EA, Dryja TP, Liao SM
published in: Human molecular genetics
information resource reference: Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration. Hum Mol Genet. 2023 01 06; 32(2):204-217.
journal title abbreviation: Hum Mol Genet
publication date: 2023-01-06T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 210404
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.

Authorship 223720
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments.

Authorship 190823
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance.

Authorship 515564
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA.

Authorship 268067
type: Authorship
author rank in publication: 7
linked author: Dryja, Thaddeus
linked information resource: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Authorship 1569403
type: Authorship
author rank in publication: 6
linked author: Dryja, Thaddeus
linked information resource: Recurrent keratoconus: an analysis of breaks in Bowman's layer in corneal grafts.

Recurrent keratoconus: an analysis of breaks in Bowman's layer in corneal grafts.
PubMed Identifier: 37278429
author list: Johns LK, Leon P, Cortes-Barrantes P, Hanbazazh M, Zurakowski D, Dryja TP, Ciolino JB
published in: BMJ open ophthalmology
information resource reference: Recurrent keratoconus: an analysis of breaks in Bowman's layer in corneal grafts. BMJ Open Ophthalmol. 2023 04; 8(1).
journal title abbreviation: BMJ Open Ophthalmol
publication date: 2023-04-01T00:00:00
year: 2023
type: Academic Article
type: Article
type: Document
type: Information Resource

Assistant Professor of Otolaryngology Head and Neck Surgery
is primary position: true
position in department: Otolaryngology Head and Neck Surgery
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: Assistant Professor of Otolaryngology Head and Neck Surgery
position in organization: Massachusetts Eye and Ear Infirmary

Instructor in Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Instructor in Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Assistant Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Professor of Ophthalmology, Part-time
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Professor of Ophthalmology, Part-time
position in organization: Massachusetts Eye and Ear Infirmary

Assistant Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

William F. Chatlos Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: William F. Chatlos Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Assistant Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Assistant Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Authorship 188178
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.

Authorship 475730
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Chromosome 13 restriction fragment length polymorphisms.

Authorship 560739
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations.

Authorship 17029
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Genetic sequences that predispose to retinoblastoma and osteosarcoma.

Authorship 163341
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.

Authorship 238688
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Null RPGRIP1 alleles in patients with Leber congenital amaurosis.

Authorship 266381
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Retinitis pigmentosa.

Authorship 305832
type: Authorship
author rank in publication: 7
linked author: Dryja, Thaddeus
linked information resource: A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.

Authorship 311536
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Low incidence of deletion of the esterase D locus in retinoblastoma patients.

Authorship 394477
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Demonstration of tyrosinase in the adult bovine uveal tract and retinal pigment epithelium.

Authorship 40409
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.

Assistant Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: Assistant Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Bullard Professor of Genetics and Neuroscience
is primary position: true
position in department: Genetics
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Bullard Professor of Genetics and Neuroscience
position in organization: Harvard Medical School

Associate Professor of Ophthalmology, Part-time
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Associate Professor of Ophthalmology, Part-time
position in organization: Massachusetts Eye and Ear Infirmary

Associate Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
type: Position
HR job title: Associate Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Professor of Ophthalmology
is primary position: true
position in department: Ophthalmology
position in division: https://connects.catalyst.harvard.edu/Profiles/profile/1229413
sort order: 1
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HR job title: Professor of Ophthalmology
position in organization: Massachusetts Eye and Ear Infirmary

Authorship 291736
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.

Authorship 48907
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization.

Authorship 376883
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Human genetics. Deficiencies in sight with the candidate gene approach.

Authorship 80856
type: Authorship
author rank in publication: 7
linked author: Dryja, Thaddeus
linked information resource: The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.

Authorship 81209
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Wolkow, Natalie
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Authorship 363322
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Instructor in Pediatrics
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Authorship 283216
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Professor of Ophthalmology
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Authorship 527821
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Authorship 383707
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Authorship 763917
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linked information resource: Reliability of the mouse model of choroidal neovascularization induced by laser photocoagulation.

Reliability of the mouse model of choroidal neovascularization induced by laser photocoagulation.
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Authorship 768997
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linked information resource: Response of choroidal leiomyoma to treatment with proton beam radiation.

Response of choroidal leiomyoma to treatment with proton beam radiation.
PubMed Identifier: 25390394
author list: Kiss S, Gragoudas ES, Dryja TP, Jakobiec FA
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Authorship 230240
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Authorship 245757
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Authorship 512481
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Authorship 3038
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Authorship 326197
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Authorship 373662
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Authorship 400892
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linked information resource: Retinitis pigmentosa and the rhodopsin gene.

Authorship 575760
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Authorship 189609
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Authorship 433123
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Authorship 96317
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linked information resource: Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

Authorship 446472
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Authorship 54841
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Authorship 75244
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Authorship 340680
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Authorship 194572
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Authorship 1978
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linked information resource: Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration.

Authorship 417466
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Authorship 262122
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Authorship 211381
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Authorship 251508
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Authorship 283214
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Authorship 346462
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Authorship 352830
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Authorship 396022
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Authorship 437491
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linked information resource: Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

Authorship 47943
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Authorship 482071
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linked information resource: Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Authorship 495516
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linked information resource: Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

Authorship 448080
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linked information resource: Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance.

Authorship 72498
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Authorship 9136
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linked information resource: Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.

Authorship 292620
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Authorship 349708
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Authorship 361831
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Authorship 439299
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Authorship 44199
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Authorship 209180
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linked information resource: Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye.

Authorship 449123
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linked information resource: Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase.

Authorship 265687
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linked information resource: Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.

Authorship 239281
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Authorship 451628
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linked information resource: Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Authorship 451678
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linked information resource: A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

Authorship 214919
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linked information resource: Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.

Authorship 277227
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linked information resource: Presence of cysteinyldopa in the mature bovine eye.

Authorship 395756
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linked information resource: Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.

Authorship 424003
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linked information resource: RB1 genetic testing as a clinical service: a follow-up study.

Authorship 491813
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linked information resource: Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma.

Authorship 528957
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linked information resource: Understanding the etiology of Stargardt's disease.

Authorship 159409
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linked information resource: Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Authorship 348148
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linked information resource: Recent studies of the retinoblastoma gene. What it means to the ophthalmologist.

Authorship 397906
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linked information resource: Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 2-2002- a 58-year-old woman with unilateral loss of vision and postmenopausal bleeding.

Authorship 447844
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linked information resource: Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.

Authorship 171202
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linked author: Dryja, Thaddeus
linked information resource: Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.

Authorship 266132
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linked information resource: Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.

Authorship 304660
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linked information resource: In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector.

Authorship 318526
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linked information resource: A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Authorship 343456
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linked information resource: Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma.

Authorship 274617
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linked information resource: High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome.

Authorship 275522
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linked information resource: Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

Authorship 353549
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linked information resource: Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management.

Authorship 382784
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linked information resource: Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Authorship 484925
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linked information resource: Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.

Authorship 493848
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linked information resource: Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

Authorship 508794
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linked information resource: Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.

Authorship 402378
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linked information resource: Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Authorship 424329
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linked information resource: The best excitement in age-related macular degeneration.

Authorship 502318
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linked information resource: Melanocytic tumor of the anterior uvea.

Authorship 526931
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linked information resource: Two families from New England with usher syndrome type IC with distinct haplotypes.

Authorship 538460
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linked information resource: Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements.

Authorship 292184
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linked information resource: Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.

Authorship 331248
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linked information resource: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Authorship 816600
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linked information resource: AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice.

AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice.
PubMed Identifier: 26199951
author list: Choi VW, Bigelow CE, McGee TL, Gujar AN, Li H, Hanks SM, Vrouvlianis J, Maker M, Leehy B, Zhang Y, Aranda J, Bounoutas G, Demirs JT, Yang J, Ornberg R, Wang Y, Martin W, Stout KR, Argentieri G, Grosenstein P, Diaz D, Turner O, Jaffee BD, Police SR, Dryja TP
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information resource reference: AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice. Mol Ther Methods Clin Dev. 2015; 2:15022.
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Authorship 426460
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Authorship 499044
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linked information resource: Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.

Authorship 566617
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linked information resource: Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus.

Authorship 5971
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linked information resource: Parental origin of mutations of the retinoblastoma gene.

Authorship 80597
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linked information resource: A silencer element in the retinoblastoma tumor-suppressor gene.

Authorship 404861
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linked information resource: Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.

Authorship 434200
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: A "negative" temporal artery biopsy, positive for arteritis.

Authorship 849797
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Dry Eye Signs and Symptoms Persist During Systemic Neutralization of IL-1ß by Canakinumab or IL-17A by Secukinumab.

Dry Eye Signs and Symptoms Persist During Systemic Neutralization of IL-1ß by Canakinumab or IL-17A by Secukinumab.
PubMed Identifier: 26418434
author list: Grosskreutz CL, Hockey HU, Serra D, Dryja TP
published in: Cornea
information resource reference: Dry Eye Signs and Symptoms Persist During Systemic Neutralization of IL-1ß by Canakinumab or IL-17A by Secukinumab. Cornea. 2015 Dec; 34(12):1551-6.
journal title abbreviation: Cornea
publication date: 2015-12-01T00:00:00
year: 2015
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 500408
type: Authorship
author rank in publication: 8
linked author: Dryja, Thaddeus
linked information resource: Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells.

Authorship 502699
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Authorship 70106
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

Authorship 180456
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Unbiased transmission of mutant alleles at the human retinoblastoma locus.

Authorship 73362
type: Authorship
author rank in publication: 7
linked author: Dryja, Thaddeus
linked information resource: Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.

Authorship 80424
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Sweat gland tumors in the eyelids: a clinicopathological analysis of 55 cases.

Authorship 326398
type: Authorship
author rank in publication: 6
linked author: Dryja, Thaddeus
linked information resource: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

Authorship 510163
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Norrie disease. Diagnosis of a simplex case by DNA analysis.

Authorship 525889
type: Authorship
author rank in publication: 8
linked author: Dryja, Thaddeus
linked information resource: https://connects.catalyst.harvard.edu/Profiles/profile/818575

Authorship 573678
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

Authorship 617164
type: Authorship
linked author: Dryja, Thaddeus
linked information resource: Orientation of pi-allyl ligand in pi-cyclopentadienyl and pi-idenyl complexes of iron and ruthenium

Assistant Professor
sort order: 2
type: Faculty Rank

Associate Professor
sort order: 1
type: Faculty Rank

Full Professor
sort order: 0
type: Faculty Rank

Instructor
sort order: 4
type: Faculty Rank

Authorship 61815
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

Authorship 84569
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Detection of the XbaI RFLP within the retinoblastoma locus by PCR.

Authorship 557594
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

Authorship 186836
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

Authorship 89745
type: Authorship
author rank in publication: 6
linked author: Dryja, Thaddeus
linked information resource: Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Authorship 481214
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: A TaqI RFLP identified at the retinoblastoma locus on chromosome 13.

Authorship 517764
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.

MOLECULAR GENETICS OF RETINOBLASTOMA AND CHROMOSOME 13
end date: 1996-05-31
principal investigator name: DRYJA, THADDEUS P
start date: 1982-09-30
type: Grant
sponsor award id: R01EY005321

Sibling Study of Age-Related Macular Degeneration
end date: 2012-08-31
principal investigator name: DEANGELIS, MARGARET M
start date: 2002-12-01
type: Grant
sponsor award id: R01EY014458

COMPLETE GENOMIC SEQUENCE OF THE RETINOBLASTOMA GENE
end date: 1992-04-30
principal investigator name: DRYJA, THADDEUS P
start date: 1989-05-01
type: Grant
sponsor award id: R01EY008088

VISION RESEARCH FACILITIES
end date: 1990-03-31
principal investigator name: DRYJA, THADDEUS P
start date: 1985-09-30
type: Grant
sponsor award id: C06EY006308

CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS
end date: 2006-11-30
principal investigator name: DRYJA, THADDEUS P
start date: 1990-08-01
type: Grant
sponsor award id: R01EY008683

P30 Core Grant for Vision Research
end date: 2029-08-31
principal investigator name: WIGGS, JANEY L
start date: 2002-04-01
type: Grant
sponsor award id: P30EY014104

MOLECULAR GENETIC STUDIES OF RETINITIS PIGMENTOSA
end date: 1988-03-31
principal investigator name: DRYJA, THADDEUS P
start date: 1985-04-01
type: Grant
sponsor award id: R01EY005739

Models of Photoreceptor Disease
end date: 2010-03-31
principal investigator name: SANDBERG, MICHAEL A
start date: 1994-01-01
type: Grant
sponsor award id: R01EY010309

BIOMEDICAL RESEARCH SUPPORT
end date: 1992-09-29
principal investigator name: JAKOBIEC, FREDERICK A.
start date: 1979-04-01
type: Grant
sponsor award id: S07RR005485

GENETIC BASIS FOR THE SEVERITY OF RETINITIS PIGMENTOSA
end date: 2002-12-31
principal investigator name: DRYJA, THADDEUS P
start date: 1997-07-01
type: Grant
sponsor award id: R01EY011655

Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: MOLECULAR GENETICS OF RETINOBLASTOMA AND CHROMOSOME 13

Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: GENETIC BASIS FOR THE SEVERITY OF RETINITIS PIGMENTOSA

Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS

Co-Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: Models of Photoreceptor Disease

Co-Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: Sibling Study of Age-Related Macular Degeneration

Co-Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: BIOMEDICAL RESEARCH SUPPORT

Co-Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: P30 Core Grant for Vision Research

Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: MOLECULAR GENETIC STUDIES OF RETINITIS PIGMENTOSA

Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: COMPLETE GENOMIC SEQUENCE OF THE RETINOBLASTOMA GENE

Principal Investigator
type: Researcher Role
researcher role of: Dryja, Thaddeus
contributes to: VISION RESEARCH FACILITIES

Authorship 341446
type: Authorship
author rank in publication: 5
linked author: Dryja, Thaddeus
linked information resource: Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Authorship 465947
type: Authorship
author rank in publication: 11
linked author: Dryja, Thaddeus
linked information resource: Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein.

Authorship 472308
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: [Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].

Authorship 929748
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Early Insight Into Neovascular Age-Related Macular Degeneration.

Early Insight Into Neovascular Age-Related Macular Degeneration.
PubMed Identifier: 27657333
author list: Dryja TP
published in: JAMA ophthalmology
information resource reference: Early Insight Into Neovascular Age-Related Macular Degeneration. JAMA Ophthalmol. 2016 11 01; 134(11):1281-1282.
journal title abbreviation: JAMA Ophthalmol
publication date: 2016-11-01T00:00:00
year: 2016
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 257810
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

Authorship 330111
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13.

Authorship 477497
type: Authorship
author rank in publication: 8
linked author: Dryja, Thaddeus
linked information resource: Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.

Authorship 521941
type: Authorship
author rank in publication: 1
linked author: Dryja, Thaddeus
linked information resource: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.

Authorship 545503
type: Authorship
author rank in publication: 10
linked author: Dryja, Thaddeus
linked information resource: Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.

Authorship 54807
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: PCR detection of the Tth 111 I RFLP at the RB locus.

Authorship 59334
type: Authorship
author rank in publication: 2
linked author: Dryja, Thaddeus
linked information resource: Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.

Characterization and chromosomal localization of the gene for human rhodopsin kinase.
PubMed Identifier: 8812493
author list: Khani SC, Abitbol M, Yamamoto S, Maravic-Magovcevic I, Dryja TP
published in: Genomics
information resource reference: Characterization and chromosomal localization of the gene for human rhodopsin kinase. Genomics. 1996 Aug 01; 35(3):571-6.
journal title abbreviation: Genomics
publication date: 1996-08-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
PubMed Identifier: 9501883
author list: Sippel KC, DeStefano JD, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. Invest Ophthalmol Vis Sci. 1998 Mar; 39(3):665-70.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1998-03-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

The best excitement in age-related macular degeneration.
PubMed Identifier: 9930170
author list: Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: The best excitement in age-related macular degeneration. Arch Ophthalmol. 1999 Jan; 117(1):108-9.
journal title abbreviation: Arch Ophthalmol
publication date: 1999-01-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

243 Charles St
type: Address
address line 1: Massachusetts Eye & Ear Infrm
address line 2: 3rd floor, Cogan Eye Pathology Lab
address line 3: 243 Charles St
city: Boston
postal code: 02114
state or province: MA

Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.
PubMed Identifier: 1808803
author list: Berson EL, Sandberg MA, Dryja TP
published in: Transactions of the American Ophthalmological Society
information resource reference: Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. Trans Am Ophthalmol Soc. 1991; 89:117-28; discussion 128-30.
journal title abbreviation: Trans Am Ophthalmol Soc
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
PubMed Identifier: 14758335
author list: Nishiguchi KM, Berson EL, Dryja TP
published in: Molecular vision
information resource reference: Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. Mol Vis. 2004 Jan 26; 10:62-4.
journal title abbreviation: Mol Vis
publication date: 2004-01-26T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
PubMed Identifier: 15591106
author list: Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A. 2004 Dec 21; 101(51):17819-24.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2004-12-09T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Rod and cone function in the Nougaret form of stationary night blindness.
PubMed Identifier: 9682699
author list: Sandberg MA, Pawlyk BS, Dan J, Arnaud B, Dryja TP, Berson EL
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Rod and cone function in the Nougaret form of stationary night blindness. Arch Ophthalmol. 1998 Jul; 116(7):867-72.
journal title abbreviation: Arch Ophthalmol
publication date: 1998-07-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
PubMed Identifier: 15505030
author list: Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson EL, Dryja TP, Baehr W
published in: Investigative ophthalmology & visual science
information resource reference: A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci. 2004 Nov; 45(11):3863-70.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2004-11-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
PubMed Identifier: 10581022
author list: Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat Genet. 1999 Dec; 23(4):393-4.
journal title abbreviation: Nat Genet
publication date: 1999-12-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
PubMed Identifier: 9497263
author list: Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP
published in: American journal of human genetics
information resource reference: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998 Mar; 62(3):610-9.
journal title abbreviation: Am J Hum Genet
publication date: 1998-03-01T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma].
PubMed Identifier: 9621119
author list: Huang Q, Dryja TP, Yandell DW
published in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
information resource reference: [Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Jun 10; 15(3):139-42.
journal title abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
publication date: 1998-06-10T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Ocular findings in spinocerebellar ataxia 7.
PubMed Identifier: 12003621
author list: McLaughlin ME, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Ocular findings in spinocerebellar ataxia 7. Arch Ophthalmol. 2002 May; 120(5):655-9.
journal title abbreviation: Arch Ophthalmol
publication date: 2002-05-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 972602
type: Authorship
author rank in publication: 32
linked author: Dryja, Thaddeus
linked information resource: Long-acting protein drugs for the treatment of ocular diseases.

Long-acting protein drugs for the treatment of ocular diseases.
PubMed Identifier: 28332616
author list: Ghosh JG, Nguyen AA, Bigelow CE, Poor S, Qiu Y, Rangaswamy N, Ornberg R, Jackson B, Mak H, Ezell T, Kenanova V, de la Cruz E, Carrion A, Etemad-Gilbertson B, Caro RG, Zhu K, George V, Bai J, Sharma-Nahar R, Shen S, Wang Y, Subramanian KK, Fassbender E, Maker M, Hanks S, Vrouvlianis J, Leehy B, Long D, Prentiss M, Kansara V, Jaffee B, Dryja TP, Roguska M
published in: Nature communications
information resource reference: Long-acting protein drugs for the treatment of ocular diseases. Nat Commun. 2017 03 23; 8:14837.
journal title abbreviation: Nat Commun
publication date: 2017-03-23T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
PubMed Identifier: 9020843
author list: Yamamoto S, Sippel KC, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet. 1997 Feb; 15(2):175-8.
journal title abbreviation: Nat Genet
publication date: 1997-02-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
PubMed Identifier: 12015282
author list: Rivolta C, Sharon D, DeAngelis MM, Dryja TP
published in: Human molecular genetics
information resource reference: Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May 15; 11(10):1219-27.
journal title abbreviation: Hum Mol Genet
publication date: 2002-05-15T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
PubMed Identifier: 14702087
author list: Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP
published in: Nature
information resource reference: Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature. 2004 Jan 01; 427(6969):75-8.
journal title abbreviation: Nature
publication date: 2004-01-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.
PubMed Identifier: 1969112
author list: Yandell DW, Dryja TP, Little JB
published in: Mutation research
information resource reference: Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells. Mutat Res. 1990 Mar; 229(1):89-102.
journal title abbreviation: Mutat Res
publication date: 1990-03-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
PubMed Identifier: 16272056
author list: Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M
published in: Ophthalmic genetics
information resource reference: Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Ophthalmic Genet. 2005 Sep; 26(3):119-24.
journal title abbreviation: Ophthalmic Genet
publication date: 2005-09-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase.
PubMed Identifier: 1683837
author list: Cotran PR, Bruns GA, Berson EL, Dryja TP
published in: Experimental eye research
information resource reference: Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase. Exp Eye Res. 1991 Nov; 53(5):557-64.
journal title abbreviation: Exp Eye Res
publication date: 1991-11-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Norrie disease. Diagnosis of a simplex case by DNA analysis.
PubMed Identifier: 8790105
author list: Chynn EW, Walton DS, Hahn LB, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Norrie disease. Diagnosis of a simplex case by DNA analysis. Arch Ophthalmol. 1996 Sep; 114(9):1136-8.
journal title abbreviation: Arch Ophthalmol
publication date: 1996-09-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Bilateral diffuse uveal melanocytic proliferation associated with extraocular cancers: review of a process particularly associated with gynecologic cancers.
PubMed Identifier: 11176070
author list: Chahud F, Young RH, Remulla JF, Khadem JJ, Dryja TP
published in: The American journal of surgical pathology
information resource reference: Bilateral diffuse uveal melanocytic proliferation associated with extraocular cancers: review of a process particularly associated with gynecologic cancers. Am J Surg Pathol. 2001 Feb; 25(2):212-8.
journal title abbreviation: Am J Surg Pathol
publication date: 2001-02-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome.
PubMed Identifier: 12365922
author list: Fernandez-Suntay JP, Gragoudas ES, Ferry JA, Anderson ME, Dacey MP, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome. Arch Ophthalmol. 2002 Oct; 120(10):1383-5.
journal title abbreviation: Arch Ophthalmol
publication date: 2002-10-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration.
PubMed Identifier: 15078676
author list: DeAngelis MM, Lane AM, Shah CP, Ott J, Dryja TP, Miller JW
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. Arch Ophthalmol. 2004 Apr; 122(4):575-80.
journal title abbreviation: Arch Ophthalmol
publication date: 2004-04-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
PubMed Identifier: 10369264
author list: Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999 Jun; 22(2):188-91.
journal title abbreviation: Nat Genet
publication date: 1999-06-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.
PubMed Identifier: 10967073
author list: Dryja TP, McEvoy JA, McGee TL, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000 Sep; 41(10):3124-7.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2000-09-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.
PubMed Identifier: 1673287
author list: Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP
published in: American journal of human genetics
information resource reference: Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet. 1991 May; 48(5):880-8.
journal title abbreviation: Am J Hum Genet
publication date: 1991-05-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
PubMed Identifier: 12215455
author list: Wang X, Xu S, Rivolta C, Li LY, Peng GH, Swain PK, Sung CH, Swaroop A, Berson EL, Dryja TP, Chen S
published in: The Journal of biological chemistry
information resource reference: Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. J Biol Chem. 2002 Nov 08; 277(45):43288-300.
journal title abbreviation: J Biol Chem
publication date: 2002-09-04T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

[Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].
PubMed Identifier: 9531640
author list: Huang Q, Dryja TP, Yandell DW
published in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
information resource reference: [Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Apr 10; 15(2):65-8.
journal title abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
publication date: 1998-04-10T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource

Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
PubMed Identifier: 10393062
author list: Dryja TP, Rucinski DE, Chen SH, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1999 Jul; 40(8):1859-65.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1999-07-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes.
PubMed Identifier: 10485554
author list: Akpek EK, Ahmed I, Hochberg FH, Soheilian M, Dryja TP, Jakobiec FA, Foster CS
published in: Ophthalmology
information resource reference: Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes. Ophthalmology. 1999 Sep; 106(9):1805-10.
journal title abbreviation: Ophthalmology
publication date: 1999-09-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation.
PubMed Identifier: 12827047
author list: Dudenhoefer EJ, Nouri M, Gipson IK, Baratz KH, Tisdale AS, Dryja TP, Abad JC, Dohlman CH
published in: Cornea
information resource reference: Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation. Cornea. 2003 Jul; 22(5):424-8.
journal title abbreviation: Cornea
publication date: 2003-07-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
PubMed Identifier: 12963616
author list: Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003 Sep; 121(9):1316-23.
journal title abbreviation: Arch Ophthalmol
publication date: 2003-09-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

DNA testing for retinoblastoma.
PubMed Identifier: 1929952
author list: Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: DNA testing for retinoblastoma. Arch Ophthalmol. 1991 Sep; 109(9):1210.
journal title abbreviation: Arch Ophthalmol
publication date: 1991-09-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.
PubMed Identifier: 9272170
author list: Dryja TP, Morrow JF, Rapaport JM
published in: Human genetics
information resource reference: Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene. Hum Genet. 1997 Sep; 100(3-4):446-9.
journal title abbreviation: Hum Genet
publication date: 1997-09-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.
PubMed Identifier: 10441600
author list: Dryja TP, McEvoy J, McGee TL, Berson EL
published in: American journal of human genetics
information resource reference: No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q. Am J Hum Genet. 1999 Sep; 65(3):926-8.
journal title abbreviation: Am J Hum Genet
publication date: 1999-09-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
PubMed Identifier: 12592226
author list: Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP
published in: Molecular vision
information resource reference: Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Mol Vis. 2003 Feb 18; 9:49-51.
journal title abbreviation: Mol Vis
publication date: 2003-02-18T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Histopathological classification of 272 primary epithelial tumors of the lacrimal gland.
PubMed Identifier: 1333391
author list: Ni C, Kuo PK, Dryja TP
published in: Chinese medical journal
information resource reference: Histopathological classification of 272 primary epithelial tumors of the lacrimal gland. Chin Med J (Engl). 1992 Jun; 105(6):481-5.
journal title abbreviation: Chin Med J (Engl)
publication date: 1992-06-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
PubMed Identifier: 1679750
author list: Travis GH, Christerson L, Danielson PE, Klisak I, Sparkes RS, Hahn LB, Dryja TP, Sutcliffe JG
published in: Genomics
information resource reference: The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics. 1991 Jul; 10(3):733-9.
journal title abbreviation: Genomics
publication date: 1991-07-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
PubMed Identifier: 18641288
author list: Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec; 49(12):5532-9.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2008-07-18T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
PubMed Identifier: 14564670
author list: Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL
published in: American journal of human genetics
information resource reference: RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003 Nov; 73(5):1131-46.
journal title abbreviation: Am J Hum Genet
publication date: 2003-10-16T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

https://connects.catalyst.harvard.edu/Profiles/profile/818575
PubMed Identifier: 14718298
author list: Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol. 2004 Jan; 122(1):70-5.
journal title abbreviation: Arch Ophthalmol
publication date: 2004-01-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource
label: Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.

Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA.
PubMed Identifier: 1973655
author list: Cotran PR, Ringens PJ, Crabb JW, Berson EL, Dryja TP
published in: Experimental eye research
information resource reference: Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA. Exp Eye Res. 1990 Jul; 51(1):15-9.
journal title abbreviation: Exp Eye Res
publication date: 1990-07-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley.
PubMed Identifier: 22232480
author list: Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley. Arch Ophthalmol. 2012 Jan; 130(1):111-2.
journal title abbreviation: Arch Ophthalmol
publication date: 2012-01-01T00:00:00
year: 2012
type: Academic Article
type: Article
type: Document
type: Information Resource

Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye.
PubMed Identifier: 16481642
author list: Walton DS, Mukai S, Grabowski EF, Munzenrider JE, Dryja TP
published in: The New England journal of medicine
information resource reference: Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. N Engl J Med. 2006 Feb 16; 354(7):741-8.
journal title abbreviation: N Engl J Med
publication date: 2006-02-16T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments.
PubMed Identifier: 8943080
author list: Li T, Snyder WK, Olsson JE, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. Proc Natl Acad Sci U S A. 1996 Nov 26; 93(24):14176-81.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1996-11-26T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
PubMed Identifier: 10102299
author list: Morimura H, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999 Apr; 40(5):1000-4.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1999-04-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells.
PubMed Identifier: 2181449
author list: Horowitz JM, Park SH, Bogenmann E, Cheng JC, Yandell DW, Kaye FJ, Minna JD, Dryja TP, Weinberg RA
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells. Proc Natl Acad Sci U S A. 1990 Apr; 87(7):2775-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1990-04-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.
PubMed Identifier: 18806796
author list: Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF
published in: Nature genetics
information resource reference: Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet. 2008 Oct; 40(10):1230-4.
journal title abbreviation: Nat Genet
publication date: 2008-09-21T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 989801
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: A Compact Whole-Eye Perfusion System to Evaluate Pharmacologic Responses of Outflow Facility.

A Compact Whole-Eye Perfusion System to Evaluate Pharmacologic Responses of Outflow Facility.
PubMed Identifier: 28605810
author list: Zhou EH, Paolucci M, Dryja TP, Manley T, Xiang C, Rice DS, Prasanna G, Chen A
published in: Investigative ophthalmology & visual science
information resource reference: A Compact Whole-Eye Perfusion System to Evaluate Pharmacologic Responses of Outflow Facility. Invest Ophthalmol Vis Sci. 2017 06 01; 58(7):2991-3003.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2017-06-01T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.
PubMed Identifier: 17210851
author list: DeAngelis MM, Ji F, Kim IK, Adams S, Capone A, Ott J, Miller JW, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2007 Jan; 125(1):49-54.
journal title abbreviation: Arch Ophthalmol
publication date: 2007-01-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
PubMed Identifier: 15781871
author list: Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A. 2005 Mar 29; 102(13):4884-9.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2005-03-21T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.
PubMed Identifier: 18164066
author list: Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A, Miller JW, Dryja TP, Ott J, Kim IK
published in: Ophthalmology
information resource reference: Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology. 2008 Jul; 115(7):1209-1215.e7.
journal title abbreviation: Ophthalmology
publication date: 2007-12-27T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas.
PubMed Identifier: 10077618
author list: Hagstrom SA, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. Proc Natl Acad Sci U S A. 1999 Mar 16; 96(6):2952-7.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1999-03-16T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
PubMed Identifier: 11146721
author list: Afshari NA, Mullally JE, Afshari MA, Steinert RF, Adamis AP, Azar DT, Talamo JH, Dohlman CH, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol. 2001 Jan; 119(1):16-22.
journal title abbreviation: Arch Ophthalmol
publication date: 2001-01-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 993480
type: Authorship
author rank in publication: 9
linked author: Dryja, Thaddeus
linked information resource: Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1.

Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1.
PubMed Identifier: 28659708
author list: Liao SM, Zheng W, Zhu J, Lewis CA, Delgado O, Crowley MA, Buchanan NM, Jaffee BD, Dryja TP
published in: Molecular vision
information resource reference: Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1. Mol Vis. 2017; 23:318-333.
journal title abbreviation: Mol Vis
publication date: 2017-06-14T00:00:00
year: 2017
type: Academic Article
type: Article
type: Document
type: Information Resource

Identification and significance of multinucleate tumor cells in retinoblastoma.
PubMed Identifier: 2751457
author list: Howard MA, Dryja TP, Walton DS, Albert DM
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Identification and significance of multinucleate tumor cells in retinoblastoma. Arch Ophthalmol. 1989 Jul; 107(7):1025-30.
journal title abbreviation: Arch Ophthalmol
publication date: 1989-07-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
PubMed Identifier: 1833777
author list: Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Oct 15; 88(20):9370-4.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1991-10-15T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
PubMed Identifier: 15851576
author list: Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Invest Ophthalmol Vis Sci. 2005 May; 46(5):1735-41.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2005-05-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
PubMed Identifier: 16708387
author list: Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP
published in: Human mutation
information resource reference: Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat. 2006 Jul; 27(7):644-53.
journal title abbreviation: Hum Mutat
publication date: 2006-07-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Retinitis pigmentosa.
PubMed Identifier: 17113430
author list: Hartong DT, Berson EL, Dryja TP
published in: Lancet (London, England)
information resource reference: Retinitis pigmentosa. Lancet. 2006 Nov 18; 368(9549):1795-809.
journal title abbreviation: Lancet
publication date: 2006-11-18T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Increased incidence of choroidal malignant melanoma occurring in a single population of chemical workers.
PubMed Identifier: 7369294
author list: Albert DM, Puliafito CA, Fulton AB, Robinson NL, Zakov ZN, Dryja TP, Smith AB, Egan E, Leffingwell SS
published in: American journal of ophthalmology
information resource reference: Increased incidence of choroidal malignant melanoma occurring in a single population of chemical workers. Am J Ophthalmol. 1980 Mar; 89(3):323-37.
journal title abbreviation: Am J Ophthalmol
publication date: 1980-03-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
PubMed Identifier: 1303237
author list: Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992 Jun; 1(3):209-13.
journal title abbreviation: Nat Genet
publication date: 1992-06-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.
PubMed Identifier: 9071225
author list: Parminder AH, Murakami A, Inana G, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. Invest Ophthalmol Vis Sci. 1997 Mar; 38(3):704-9.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1997-03-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

A TaqI RFLP identified at the retinoblastoma locus on chromosome 13.
PubMed Identifier: 2902570
author list: Shiang R, Murray JC, Wiggs J, Dryja T
published in: Nucleic acids research
information resource reference: A TaqI RFLP identified at the retinoblastoma locus on chromosome 13. Nucleic Acids Res. 1988 Sep 26; 16(18):9069.
journal title abbreviation: Nucleic Acids Res
publication date: 1988-09-26T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.
PubMed Identifier: 3004203
author list: Dryja TP, Rapaport JM, Epstein J, Goorin AM, Weichselbaum R, Koufos A, Cavenee WK
published in: American journal of human genetics
information resource reference: Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. Am J Hum Genet. 1986 Jan; 38(1):59-66.
journal title abbreviation: Am J Hum Genet
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
PubMed Identifier: 10775529
author list: Rivolta C, Sweklo EA, Berson EL, Dryja TP
published in: American journal of human genetics
information resource reference: Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000 Jun; 66(6):1975-8.
journal title abbreviation: Am J Hum Genet
publication date: 2000-04-20T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.
PubMed Identifier: 2577468
author list: Yandell DW, Dryja TP
published in: American journal of human genetics
information resource reference: Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet. 1989 Oct; 45(4):547-55.
journal title abbreviation: Am J Hum Genet
publication date: 1989-10-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Predicting the risk of hereditary retinoblastoma.
PubMed Identifier: 3048110
author list: Wiggs JL, Dryja TP
published in: American journal of ophthalmology
information resource reference: Predicting the risk of hereditary retinoblastoma. Am J Ophthalmol. 1988 Sep 15; 106(3):346-51.
journal title abbreviation: Am J Ophthalmol
publication date: 1988-09-15T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Point mutational inactivation of the retinoblastoma antioncogene.
PubMed Identifier: 2521957
author list: Horowitz JM, Yandell DW, Park SH, Canning S, Whyte P, Buchkovich K, Harlow E, Weinberg RA, Dryja TP
published in: Science (New York, N.Y.)
information resource reference: Point mutational inactivation of the retinoblastoma antioncogene. Science. 1989 Feb 17; 243(4893):937-40.
journal title abbreviation: Science
publication date: 1989-02-17T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Isolation of DNA fragments from chromosome 13.
PubMed Identifier: 6308738
author list: Dryja TP, Bruns GA, Orkin SH, Albert DM, Gerald PS
published in: Retina (Philadelphia, Pa.)
information resource reference: Isolation of DNA fragments from chromosome 13. Retina. 1983; 3(2):121-5.
journal title abbreviation: Retina
publication date: 1983-01-01T00:00:00
year: 1983
type: Academic Article
type: Article
type: Document
type: Information Resource

Adenocarcinoma arising from the epithelium of the iris and ciliary body.
PubMed Identifier: 6995386
author list: Dryja TP, Zakov ZN, Albert DM
published in: International ophthalmology clinics
information resource reference: Adenocarcinoma arising from the epithelium of the iris and ciliary body. Int Ophthalmol Clin. 1980; 20(2):177-90.
journal title abbreviation: Int Ophthalmol Clin
publication date: 1980-01-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

Adenocarcinoma arising from the epithelium of the ciliary body.
PubMed Identifier: 7322477
author list: Dryja TP, Albert DM, Horns D
published in: Ophthalmology
information resource reference: Adenocarcinoma arising from the epithelium of the ciliary body. Ophthalmology. 1981 Dec; 88(12):1290-2.
journal title abbreviation: Ophthalmology
publication date: 1981-12-01T00:00:00
year: 1981
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
PubMed Identifier: 7724547
author list: McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A. 1995 Apr 11; 92(8):3249-53.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1995-04-11T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

A silencer element in the retinoblastoma tumor-suppressor gene.
PubMed Identifier: 8183566
author list: Ohtani-Fujita N, Fujita T, Takahashi R, Robbins PD, Dryja TP, Sakai T
published in: Oncogene
information resource reference: A silencer element in the retinoblastoma tumor-suppressor gene. Oncogene. 1994 Jun; 9(6):1703-11.
journal title abbreviation: Oncogene
publication date: 1994-06-01T00:00:00
year: 1994
type: Academic Article
type: Article
type: Document
type: Information Resource

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
PubMed Identifier: 8673138
author list: Dryja TP, Hahn LB, Reboul T, Arnaud B
published in: Nature genetics
information resource reference: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996 Jul; 13(3):358-60.
journal title abbreviation: Nat Genet
publication date: 1996-07-01T00:00:00
year: 1996
type: Academic Article
type: Article
type: Document
type: Information Resource

Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance.
PubMed Identifier: 10088824
author list: Tulvatana W, Adamian M, Berson EL, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol. 1999 Mar; 117(3):399-402.
journal title abbreviation: Arch Ophthalmol
publication date: 1999-03-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
PubMed Identifier: 10391211
author list: Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999 Jul; 22(3):248-54.
journal title abbreviation: Nat Genet
publication date: 1999-07-01T00:00:00
year: 1999
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
PubMed Identifier: 10930322
author list: Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP
published in: Experimental eye research
information resource reference: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res. 2000 Aug; 71(2):173-81.
journal title abbreviation: Exp Eye Res
publication date: 2000-08-01T00:00:00
year: 2000
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
PubMed Identifier: 11748859
author list: Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP
published in: Human mutation
information resource reference: Novel frameshift mutations in CRX associated with Leber congenital amaurosis. Hum Mutat. 2001 Dec; 18(6):550-1.
journal title abbreviation: Hum Mutat
publication date: 2001-12-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

A "negative" temporal artery biopsy, positive for arteritis.
PubMed Identifier: 15249381
author list: Chiu CS, Dryja TP, Lessell S
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: A "negative" temporal artery biopsy, positive for arteritis. Arch Ophthalmol. 2004 Jul; 122(7):1074-5.
journal title abbreviation: Arch Ophthalmol
publication date: 2004-07-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.
PubMed Identifier: 17167409
author list: Rivolta C, Berson EL, Dryja TP
published in: Molecular vision
information resource reference: Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Mol Vis. 2006 Dec 05; 12:1511-5.
journal title abbreviation: Mol Vis
publication date: 2006-12-05T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
PubMed Identifier: 19074801
author list: den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1864-72.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2008-12-13T00:00:00
year: 2008
type: Academic Article
type: Article
type: Document
type: Information Resource

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
PubMed Identifier: 2594029
author list: Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP
published in: The New England journal of medicine
information resource reference: Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med. 1989 Dec 21; 321(25):1689-95.
journal title abbreviation: N Engl J Med
publication date: 1989-12-21T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa.
PubMed Identifier: 9268593
author list: Yamamoto S, Khani SC, Berson EL, Dryja TP
published in: Experimental eye research
information resource reference: Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. Exp Eye Res. 1997 Aug; 65(2):249-53.
journal title abbreviation: Exp Eye Res
publication date: 1997-08-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Genetic sequences that predispose to retinoblastoma and osteosarcoma.
PubMed Identifier: 3480547
author list: Dryja TP, Friend S, Weinberg RA
published in: Symposium on Fundamental Cancer Research
information resource reference: Genetic sequences that predispose to retinoblastoma and osteosarcoma. Symp Fundam Cancer Res. 1986; 39:115-9.
journal title abbreviation: Symp Fundam Cancer Res
publication date: 1986-01-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Mass cultivation of bovine ocular pigment epithelial cells in microcarrier suspension culture.
PubMed Identifier: 7050004
author list: D'Amico DJ, Dryja TP, Tyo MA, Craft JL, Albert DM
published in: Investigative ophthalmology & visual science
information resource reference: Mass cultivation of bovine ocular pigment epithelial cells in microcarrier suspension culture. Invest Ophthalmol Vis Sci. 1982 Sep; 23(3):332-9.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1982-09-01T00:00:00
year: 1982
type: Academic Article
type: Article
type: Document
type: Information Resource

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
PubMed Identifier: 8394174
author list: McLaughlin ME, Sandberg MA, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1993 Jun; 4(2):130-4.
journal title abbreviation: Nat Genet
publication date: 1993-06-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

RB1 genetic testing as a clinical service: a follow-up study.
PubMed Identifier: 11568901
author list: Cohen JG, Dryja TP, Davis KB, Diller LR, Li FP
published in: Medical and pediatric oncology
information resource reference: RB1 genetic testing as a clinical service: a follow-up study. Med Pediatr Oncol. 2001 Oct; 37(4):372-8.
journal title abbreviation: Med Pediatr Oncol
publication date: 2001-10-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
PubMed Identifier: 11879142
author list: DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Arch Ophthalmol. 2002 Mar; 120(3):369-75.
journal title abbreviation: Arch Ophthalmol
publication date: 2002-03-01T00:00:00
year: 2002
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
PubMed Identifier: 11527935
author list: Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci. 2001 Sep; 42(10):2229-36.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2001-09-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management.
PubMed Identifier: 15083078
author list: Mandeville JT, Roh JH, Woog JJ, Gonnering RS, Levin PS, Mazzoli RA, Ainbinder DJ, Older JJ, Moulin AP, Kiel R, Kim YD, Dryja TP
published in: Ophthalmic plastic and reconstructive surgery
information resource reference: Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management. Ophthalmic Plast Reconstr Surg. 2004 Mar; 20(2):110-6.
journal title abbreviation: Ophthalmic Plast Reconstr Surg
publication date: 2004-03-01T00:00:00
year: 2004
type: Academic Article
type: Article
type: Document
type: Information Resource

Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.
PubMed Identifier: 1974891
author list: Ringens PJ, Fang M, Shinohara T, Bridges CD, Lerea CL, Berson EL, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1990 Aug; 31(8):1421-6.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1990-08-01T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
PubMed Identifier: 16020312
author list: Ben-Arie-Weintrob Y, Berson EL, Dryja TP
published in: Ophthalmic genetics
information resource reference: Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases. Ophthalmic Genet. 2005 Jun; 26(2):91-100.
journal title abbreviation: Ophthalmic Genet
publication date: 2005-06-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements.
PubMed Identifier: 16374317
author list: Dryja TP
published in: Retina (Philadelphia, Pa.)
information resource reference: Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements. Retina. 2005 Dec; 25(8 Suppl):S13-S14.
journal title abbreviation: Retina
publication date: 2005-12-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
PubMed Identifier: 17325176
author list: Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL
published in: Investigative ophthalmology & visual science
information resource reference: Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci. 2007 Mar; 48(3):1298-304.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2007-03-01T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.
PubMed Identifier: 19325938
author list: Hartong DT, McGee TL, Sandberg MA, Berson EL, Asselbergs FW, van der Harst P, De Vivo I, Dryja TP
published in: Molecular vision
information resource reference: Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation. Mol Vis. 2009; 15:592-7.
journal title abbreviation: Mol Vis
publication date: 2009-03-27T00:00:00
year: 2009
type: Academic Article
type: Article
type: Document
type: Information Resource

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.
PubMed Identifier: 2740342
author list: Canning S, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci U S A. 1989 Jul; 86(13):5044-8.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1989-07-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).
PubMed Identifier: 1987956
author list: Berson EL, Rosner B, Sandberg MA, Dryja TP
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Arch Ophthalmol. 1991 Jan; 109(1):92-101.
journal title abbreviation: Arch Ophthalmol
publication date: 1991-01-01T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
PubMed Identifier: 2021172
author list: Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP
published in: American journal of ophthalmology
information resource reference: Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol. 1991 May 15; 111(5):614-23.
journal title abbreviation: Am J Ophthalmol
publication date: 1991-05-15T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Light stimulation of iris tyrosinase in vivo.
PubMed Identifier: 6768692
author list: Dryja TP, Kimball GP, Albert DM
published in: Investigative ophthalmology & visual science
information resource reference: Light stimulation of iris tyrosinase in vivo. Invest Ophthalmol Vis Sci. 1980 May; 19(5):559-62.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 1980-05-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease.
PubMed Identifier: 7774932
author list: Magovcevic I, Weremowicz S, Morton CC, Fong SL, Berson EL, Dryja TP
published in: Genomics
information resource reference: Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. Genomics. 1995 Jan 01; 25(1):288-90.
journal title abbreviation: Genomics
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
PubMed Identifier: 1684223
author list: Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP
published in: Nature
information resource reference: Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991 Dec 12; 354(6353):480-3.
journal title abbreviation: Nature
publication date: 1991-12-12T00:00:00
year: 1991
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma.
PubMed Identifier: 12583798
author list: Foster BS, Fernandez-Suntay JP, Dryja TP, Jakobiec FA, D'Amico DJ
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma. Arch Ophthalmol. 2003 Feb; 121(2):273-6.
journal title abbreviation: Arch Ophthalmol
publication date: 2003-02-01T00:00:00
year: 2003
type: Academic Article
type: Article
type: Document
type: Information Resource

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
PubMed Identifier: 15712225
author list: Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP
published in: Human mutation
information resource reference: Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005 Mar; 25(3):248-58.
journal title abbreviation: Hum Mutat
publication date: 2005-03-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Importance of genotyping in clinical trials of inherited and orphan retinal diseases.
PubMed Identifier: 16374348
author list: Dryja TP
published in: Retina (Philadelphia, Pa.)
information resource reference: Importance of genotyping in clinical trials of inherited and orphan retinal diseases. Retina. 2005 Dec; 25(8 Suppl):S74.
journal title abbreviation: Retina
publication date: 2005-12-01T00:00:00
year: 2005
type: Academic Article
type: Article
type: Document
type: Information Resource

Melanocytoma of the optic nerve associated with sound-induced phosphenes.
PubMed Identifier: 16476900
author list: Kim IK, Dryja TP, Lessell S, Gragoudas ES
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Melanocytoma of the optic nerve associated with sound-induced phosphenes. Arch Ophthalmol. 2006 Feb; 124(2):273-7.
journal title abbreviation: Arch Ophthalmol
publication date: 2006-02-01T00:00:00
year: 2006
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
PubMed Identifier: 2215617
author list: Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL
published in: The New England journal of medicine
information resource reference: Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990 Nov 08; 323(19):1302-7.
journal title abbreviation: N Engl J Med
publication date: 1990-11-08T00:00:00
year: 1990
type: Academic Article
type: Article
type: Document
type: Information Resource

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
PubMed Identifier: 7493036
author list: Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP
published in: Nature genetics
information resource reference: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet. 1995 Dec; 11(4):468-71.
journal title abbreviation: Nat Genet
publication date: 1995-12-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
PubMed Identifier: 17476461
author list: Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP
published in: Documenta ophthalmologica. Advances in ophthalmology
information resource reference: Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol. 2007 Sep; 115(2):111-6.
journal title abbreviation: Doc Ophthalmol
publication date: 2007-05-03T00:00:00
year: 2007
type: Academic Article
type: Article
type: Document
type: Information Resource

Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.
PubMed Identifier: 2701949
author list: McGee TL, Yandell DW, Dryja TP
published in: Gene
information resource reference: Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene. 1989 Aug 01; 80(1):119-28.
journal title abbreviation: Gene
publication date: 1989-08-01T00:00:00
year: 1989
type: Academic Article
type: Article
type: Document
type: Information Resource

Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis.
PubMed Identifier: 20926833
author list: Hueber W, Patel DD, Dryja T, Wright AM, Koroleva I, Bruin G, Antoni C, Draelos Z, Gold MH, Durez P, Tak PP, Gomez-Reino JJ, Foster CS, Kim RY, Samson CM, Falk NS, Chu DS, Callanan D, Nguyen QD, Rose K, Haider A, Di Padova F
published in: Science translational medicine
information resource reference: Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis. Sci Transl Med. 2010 Oct 06; 2(52):52ra72.
journal title abbreviation: Sci Transl Med
publication date: 2010-10-06T00:00:00
year: 2010
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
PubMed Identifier: 7479749
author list: Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci U S A. 1995 Oct 24; 92(22):10177-81.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1995-10-24T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Age at menarche and exposure to light.
PubMed Identifier: 887139
author list: Dryja TP
published in: The New England journal of medicine
information resource reference: Age at menarche and exposure to light. N Engl J Med. 1977 Sep 01; 297(9):512-3.
journal title abbreviation: N Engl J Med
publication date: 1977-09-01T00:00:00
year: 1977
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1037459
type: Authorship
author rank in publication: 3
linked author: Dryja, Thaddeus
linked information resource: Mild Complications or Unusual Persistence of Porcine Collagen and Hyaluronic Acid Gel Following Periocular Filler Injections.

Mild Complications or Unusual Persistence of Porcine Collagen and Hyaluronic Acid Gel Following Periocular Filler Injections.
PubMed Identifier: 29319639
author list: Wolkow N, Jakobiec FA, Dryja TP, Lefebvre DR
published in: Ophthalmic plastic and reconstructive surgery
information resource reference: Mild Complications or Unusual Persistence of Porcine Collagen and Hyaluronic Acid Gel Following Periocular Filler Injections. Ophthalmic Plast Reconstr Surg. 2018 Sep/Oct; 34(5):e143-e146.
journal title abbreviation: Ophthalmic Plast Reconstr Surg
publication date: 2018-09-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Authorship 1039010
type: Authorship
author rank in publication: 4
linked author: Dryja, Thaddeus
linked information resource: Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma.

Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma.
PubMed Identifier: 29351118
author list: Ma L, Jakobiec FA, Wolkow N, Dryja TP, Borodic GE
published in: Ophthalmic plastic and reconstructive surgery
information resource reference: Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma. Ophthalmic Plast Reconstr Surg. 2018 May/Jun; 34(3):e83-e85.
journal title abbreviation: Ophthalmic Plast Reconstr Surg
publication date: 2018-05-01T00:00:00
year: 2018
type: Academic Article
type: Article
type: Document
type: Information Resource

Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13.
PubMed Identifier: 3462714
author list: Squire J, Dryja TP, Dunn J, Goddard A, Hofmann T, Musarella M, Willard HF, Becker AJ, Gallie BL, Phillips RA
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13. Proc Natl Acad Sci U S A. 1986 Sep; 83(17):6573-7.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1986-09-01T00:00:00
year: 1986
type: Academic Article
type: Article
type: Document
type: Information Resource

Accuracy of detection of the retinoblastoma gene by esterase D linkage.
PubMed Identifier: 3862370
author list: Halloran SL, Boughman JA, Dryja TP, Mukai S, Long D, Roberts DF, Craft AW
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Accuracy of detection of the retinoblastoma gene by esterase D linkage. Arch Ophthalmol. 1985 Sep; 103(9):1329-31.
journal title abbreviation: Arch Ophthalmol
publication date: 1985-09-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Melanocytic tumor of the anterior uvea.
PubMed Identifier: 717526
author list: Dunphy EB, Dryja TP, Albert DM, Smith TR
published in: American journal of ophthalmology
information resource reference: Melanocytic tumor of the anterior uvea. Am J Ophthalmol. 1978 Nov; 86(5):680-3.
journal title abbreviation: Am J Ophthalmol
publication date: 1978-11-01T00:00:00
year: 1978
type: Academic Article
type: Article
type: Document
type: Information Resource

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
PubMed Identifier: 8358437
author list: Dryja TP, Berson EL, Rao VR, Oprian DD
published in: Nature genetics
information resource reference: Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993 Jul; 4(3):280-3.
journal title abbreviation: Nat Genet
publication date: 1993-07-01T00:00:00
year: 1993
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular genetics of retinitis pigmentosa.
PubMed Identifier: 8541873
author list: Dryja TP, Li T
published in: Human molecular genetics
information resource reference: Molecular genetics of retinitis pigmentosa. Hum Mol Genet. 1995; 4 Spec No:1739-43.
journal title abbreviation: Hum Mol Genet
publication date: 1995-01-01T00:00:00
year: 1995
type: Academic Article
type: Article
type: Document
type: Information Resource

Molecular and cytologic analysis of DNA amplification in retinoblastoma.
PubMed Identifier: 2986831
author list: Sakai K, Kanda N, Shiloh Y, Donlon T, Schreck R, Shipley J, Dryja T, Chaum E, Chaganti RS, Latt S
published in: Cancer genetics and cytogenetics
information resource reference: Molecular and cytologic analysis of DNA amplification in retinoblastoma. Cancer Genet Cytogenet. 1985 Jun; 17(2):95-112.
journal title abbreviation: Cancer Genet Cytogenet
publication date: 1985-06-01T00:00:00
year: 1985
type: Academic Article
type: Article
type: Document
type: Information Resource

Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma.
PubMed Identifier: 9309117
author list: Ohtani-Fujita N, Dryja TP, Rapaport JM, Fujita T, Matsumura S, Ozasa K, Watanabe Y, Hayashi K, Maeda K, Kinoshita S, Matsumura T, Ohnishi Y, Hotta Y, Takahashi R, Kato MV, Ishizaki K, Sasaki MS, Horsthemke B, Minoda K, Sakai T
published in: Cancer genetics and cytogenetics
information resource reference: Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet. 1997 Oct 01; 98(1):43-9.
journal title abbreviation: Cancer Genet Cytogenet
publication date: 1997-10-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).
PubMed Identifier: 11756676
author list: Sharon D, Blackshaw S, Cepko CL, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE). Proc Natl Acad Sci U S A. 2002 Jan 08; 99(1):315-20.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 2001-12-26T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.
PubMed Identifier: 9345108
author list: McGee TL, Devoto M, Ott J, Berson EL, Dryja TP
published in: American journal of human genetics
information resource reference: Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele. Am J Hum Genet. 1997 Nov; 61(5):1059-66.
journal title abbreviation: Am J Hum Genet
publication date: 1997-11-01T00:00:00
year: 1997
type: Academic Article
type: Article
type: Document
type: Information Resource

Oncogenes and tumor-suppressing genes.
PubMed Identifier: 3278233
author list: Friend SH, Dryja TP, Weinberg RA
published in: The New England journal of medicine
information resource reference: Oncogenes and tumor-suppressing genes. N Engl J Med. 1988 Mar 10; 318(10):618-22.
journal title abbreviation: N Engl J Med
publication date: 1988-03-10T00:00:00
year: 1988
type: Academic Article
type: Article
type: Document
type: Information Resource

Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
PubMed Identifier: 1358680
author list: Dryja TP
published in: Eye (London, England)
information resource reference: Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye (Lond). 1992; 6 ( Pt 1):1-10.
journal title abbreviation: Eye (Lond)
publication date: 1992-01-01T00:00:00
year: 1992
type: Academic Article
type: Article
type: Document
type: Information Resource

Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
PubMed Identifier: 11527933
author list: Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP
published in: Investigative ophthalmology & visual science
information resource reference: Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001 Sep; 42(10):2217-24.
journal title abbreviation: Invest Ophthalmol Vis Sci
publication date: 2001-09-01T00:00:00
year: 2001
type: Academic Article
type: Article
type: Document
type: Information Resource

Lack of adrenergic influence on the pigmentation of iris nevus cells.
PubMed Identifier: 7436833
author list: Dryja TP, Albert DM
published in: Archives of ophthalmology (Chicago, Ill. : 1960)
information resource reference: Lack of adrenergic influence on the pigmentation of iris nevus cells. Arch Ophthalmol. 1980 Nov; 98(11):1996.
journal title abbreviation: Arch Ophthalmol
publication date: 1980-11-01T00:00:00
year: 1980
type: Academic Article
type: Article
type: Document
type: Information Resource

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
PubMed Identifier: 9501220
author list: Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP
published in: Proceedings of the National Academy of Sciences of the United States of America
information resource reference: Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17; 95(6):3088-93.
journal title abbreviation: Proc Natl Acad Sci U S A
publication date: 1998-03-17T00:00:00
year: 1998
type: Academic Article
type: Article
type: Document
type: Information Resource