Olsson JE, Gordon JW, Pawlyk BS, Roof D, Hayes A, Molday RS, Mukai S, Cowley GS, Berson EL, Dryja TP
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron. 1992 Nov; 9(5):815-30.
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL
Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001 May; 68(5):1295-8.
Null RPGRIP1 alleles in patients with Leber congenital amaurosis.
Crowley MA, Delgado O, Will-Orrego A, Buchanan NM, Anderson K, Jaffee BD, Dryja TP, Liao SM
Investigative ophthalmology & visual science
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.
Induction of Ocular Complement Activation by Inflammatory Stimuli and Intraocular Inhibition of Complement Factor D in Animal Models.
Zheng W, Dryja TP, Wei Z, Song D, Tian H, Kahler KH, Khawaja AP
Systemic Medication Associations with Presumed Advanced or Uncontrolled Primary Open-Angle Glaucoma. Ophthalmology. 2018 07; 125(7):984-993.
Systemic Medication Associations with Presumed Advanced or Uncontrolled Primary Open-Angle Glaucoma.
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
Low frequency of oncogenic mutations in the core promoter region of the RB1 gene. Hum Mutat. 1999; 13(5):410-1.
Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.
Understanding the etiology of Stargardt's disease. Ophthalmol Clin North Am. 2002 Mar; 15(1):93-100, viii.
Understanding the etiology of Stargardt's disease.
Craft JL, Sang DN, Dryja TP, Brockhurst RJ, Robinson NL, Albert DM
Glial cell component in retinoblastoma. Exp Eye Res. 1985 May; 40(5):647-59.
Lalande M, Dryja TP, Schreck RR, Shipley J, Flint A, Latt SA
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.
Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus.
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994 Jun 10; 264(5165):1604-8.
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
Ciulla TA, Tolentino F, Morrow JF, Dryja TP
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation. Surv Ophthalmol. 1995 Nov-Dec; 40(3):197-206.
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
Proceedings of the National Academy of Sciences of the United States of America
Gene-based approach to human gene-phenotype correlations. Proc Natl Acad Sci U S A. 1997 Oct 28; 94(22):12117-21.
Gene-based approach to human gene-phenotype correlations.
Hagstrom SA, North MA, Nishina PL, Berson EL, Dryja TP
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nat Genet. 1998 Feb; 18(2):174-6.
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
Li T, Sandberg MA, Pawlyk BS, Rosner B, Hayes KC, Dryja TP, Berson EL
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.
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures.
Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. Genomics. 1994 Aug; 22(3):659-660.
Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance.
Li T, Adamian M, Roof DJ, Berson EL, Dryja TP, Roessler BJ, Davidson BL
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.
In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector.
Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25; 343(6256):364-6.
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
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.
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.
Berson EL, Rosner B, Weigel-DiFranco C, Dryja TP, Sandberg MA
Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci. 2002 Sep; 43(9):3027-36.
Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations.
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
Lens regeneration in children. Nature. 2018 04 04; 556(7699):E2-E3.
Vaughn GL, Toguchida J, McGee TL, Dryja TP
PCR detection of the Tth 111 I RFLP at the RB locus. Nucleic Acids Res. 1990 Aug 25; 18(16):4965.
PCR detection of the Tth 111 I RFLP at the RB locus.
Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert DM, Dryja TP
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16-22; 323(6089):643-6.
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma.
Lacrimal gland tumors: a clinicopathological analysis of 160 cases. Int Ophthalmol Clin. 1982; 22(1):99-120.
Lacrimal gland tumors: a clinicopathological analysis of 160 cases.
Retrieval of human DNA from rodent-human genomic libraries by a recombination process. Gene. 1983 Sep; 23(3):343-54.
Retrieval of human DNA from rodent-human genomic libraries by a recombination process.
Dryja TP, Cavenee W, White R, Rapaport JM, Petersen R, Albert DM, Bruns GA
Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med. 1984 Mar 01; 310(9):550-3.
Homozygosity of chromosome 13 in retinoblastoma.
Sweeney MO, McGee TL, Berson EL, Dryja TP
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.
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Human genetics. Deficiencies in sight with the candidate gene approach. Nature. 1990 Oct 18; 347(6294):614.
Human genetics. Deficiencies in sight with the candidate gene approach.
Dryja TP, Mukai S, Petersen R, Rapaport JM, Walton D, Yandell DW
Parental origin of mutations of the retinoblastoma gene. Nature. 1989 Jun 15; 339(6225):556-8.
Parental origin of mutations of the retinoblastoma gene.
Archives of ophthalmology (Chicago, Ill. : 1960)
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.
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.
Li T, Franson WK, Gordon JW, Berson EL, Dryja TP
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.
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.
Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP
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.
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
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.
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
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
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.
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.
Elemental analysis of melanins from bovine hair, iris, choroid, and retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1979 Mar; 18(3):231-6.
Elemental analysis of melanins from bovine hair, iris, choroid, and retinal pigment epithelium.
Kajiwara K, Sandberg MA, Berson EL, Dryja TP
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.
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M
Documenta ophthalmologica. Advances in ophthalmology
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. Doc Ophthalmol. 2009 Jun; 118(3):233-8.
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
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.
Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than by intragenic structural alterations.
Dryja TP, Rapaport JM, Weichselbaum R, Bruns GA
Chromosome 13 restriction fragment length polymorphisms. Hum Genet. 1984; 65(4):320-4.
Chromosome 13 restriction fragment length polymorphisms.
Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994 Mar; 35(3):1077-82.
Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.
Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma. Cancer Genet Cytogenet. 1986 May; 22(1):45-53.
Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma.
Dryja TP, Bruns GA, Gallie B, Petersen R, Green W, Rapaport JM, Albert DM, Gerald PS
Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum Genet. 1983; 64(2):151-5.
Low incidence of deletion of the esterase D locus in retinoblastoma patients.
Albert DM, Robinson NL, Fulton AB, Zakov ZN, Dryja TP, Puliafito CA, Smith AB, Egan EA
Epidemikological investigation of increased incidence of choroidal melanoma in a single population of chemical workers. Int Ophthalmol Clin. 1980; 20(2):71-92.
Epidemikological investigation of increased incidence of choroidal melanoma in a single population of chemical workers.
Dryja TP, O'Neil-Dryja M, Pawelek JM, Albert DM
Demonstration of tyrosinase in the adult bovine uveal tract and retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1978 Jun; 17(6):511-4.
Demonstration of tyrosinase in the adult bovine uveal tract and retinal pigment epithelium.
Orientation of pi-allyl ligand in pi-cyclopentadienyl and pi-idenyl complexes of iron and ruthenium. J Organomet Chem. 1974; 65:395-397.
Orientation of pi-allyl ligand in pi-cyclopentadienyl and pi-idenyl complexes of iron and ruthenium
Mukai S, Rapaport JM, Shields JA, Augsburger JJ, Dryja TP
Linkage of genes for human esterase D and hereditary retinoblastoma. Am J Ophthalmol. 1984 Jun; 97(6):681-5.
Linkage of genes for human esterase D and hereditary retinoblastoma.
Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1995 Aug; 36(9):1934-42.
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.
Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity. Invest Ophthalmol Vis Sci. 1995 Jun; 36(7):1197-200.
Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.
Toguchida J, McGee TL, Paterson JC, Eagle JR, Tucker S, Yandell DW, Dryja TP
Complete genomic sequence of the human retinoblastoma susceptibility gene. Genomics. 1993 Sep; 17(3):535-43.
Complete genomic sequence of the human retinoblastoma susceptibility gene.
McGee TL, Cowley GS, Yandell DW, Dryja TP
Detection of the XbaI RFLP within the retinoblastoma locus by PCR. Nucleic Acids Res. 1990 Jan 11; 18(1):207.
Detection of the XbaI RFLP within the retinoblastoma locus by PCR.
Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y
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.
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics. 1994 May 15; 21(2):461-3.
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
Jacobson SG, Mohindra I, Held R, Dryja TP, Albert DM
Visual acuity development in tyrosinase negative oculocutaneous albinism. Doc Ophthalmol. 1984 Feb 29; 56(4):337-44.
Visual acuity development in tyrosinase negative oculocutaneous albinism.
Dryja TP, Hahn LB, Kajiwara K, Berson EL
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997 Sep; 38(10):1972-82.
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
Godbout R, Dryja TP, Squire J, Gallie BL, Phillips RA
Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma. Nature. 1983 Aug 4-10; 304(5925):451-3.
Somatic inactivation of genes on chromosome 13 is a common event in retinoblastoma.
Sweat gland tumors in the eyelids: a clinicopathological analysis of 55 cases. Int Ophthalmol Clin. 1982; 22(1):1-22.
Sweat gland tumors in the eyelids: a clinicopathological analysis of 55 cases.
DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP
Two families from New England with usher syndrome type IC with distinct haplotypes. Am J Ophthalmol. 2001 Mar; 131(3):355-8.
Two families from New England with usher syndrome type IC with distinct haplotypes.
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.
Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.
Sakai T, Ohtani N, McGee TL, Robbins PD, Dryja TP
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature. 1991 Sep 05; 353(6339):83-6.
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.
Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphree AL, Strong LC, White RL
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature. 1983 Oct 27-Nov 2; 305(5937):779-84.
Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.
Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34.
Unbiased transmission of mutant alleles at the human retinoblastoma locus.
Dryja TP, Albert DM, Rosengren E, Reid TW
Presence of cysteinyldopa in the mature bovine eye. Exp Eye Res. 1977 Nov; 25(5):459-64.
Presence of cysteinyldopa in the mature bovine eye.
Retinitis pigmentosa and the rhodopsin gene. Int Ophthalmol Clin. 1993; 33(2):219-28.
Retinitis pigmentosa and the rhodopsin gene.
Papadaki TG, Kafkala C, Zacharopoulos IP, Seyedahmadi B J, Dryja T, Foster CS
Conjunctival non-caseating granulomas in a human immunodeficiency virus (HIV) positive patient attributed to sarcoidosis. Ocul Immunol Inflamm. 2006 Oct; 14(5):309-11.
Conjunctival non-caseating granulomas in a human immunodeficiency virus (HIV) positive patient attributed to sarcoidosis.
Choopong P, Nielsen PG, Perlman EM, Huang JJ, Dryja TP, Foster CS
Solitary myofibroma of the sclera. Cornea. 2007 Jan; 26(1):114-6.
Bernards R, Shackleford GM, Schackleford GM, Gerber MR, Horowitz JM, Friend SH, Schartl M, Bogenmann E, Rapaport JM, McGee T, Dryja TP
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.
Structure and expression of the murine retinoblastoma gene and characterization of its encoded protein.
Mukai S, Dryja TP, Bruns GA, Aldridge JF, Berson EL
Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus. Am J Ophthalmol. 1985 Aug 15; 100(2):225-9.
Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.
Rosenfeld PJ, Hahn LB, Sandberg MA, Dryja TP, Berson EL
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.
Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
Rosenfeld PJ, McKusick VA, Amberger JS, Dryja TP
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.
Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.
Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP
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.
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
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.
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
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.
Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.
Mylvaganam GH, McGee TL, Berson EL, Dryja TP
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. Mol Vis. 2006 Dec 04; 12:1496-8.
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet. 2007 Sep; 28(3):135-42.
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Kim IK, Ji F, Morrison MA, Adams S, Zhang Q, Lane AM, Capone A, Dryja TP, Ott J, Miller JW, DeAngelis MM
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.
Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
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.
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
Dryja TP, Rapaport JM, Joyce JM, Petersen RA
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.
Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas.
Recent studies of the retinoblastoma gene. What it means to the ophthalmologist. Arch Ophthalmol. 1988 Feb; 106(2):181-2.
Recent studies of the retinoblastoma gene. What it means to the ophthalmologist.
Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization. Hum Genet. 1985; 71(3):192-5.
Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization.
Dryja TP, Rapaport J, McGee TL, Nork TM, Schwartz TL
Molecular etiology of low-penetrance retinoblastoma in two pedigrees. Am J Hum Genet. 1993 Jun; 52(6):1122-8.
Molecular etiology of low-penetrance retinoblastoma in two pedigrees.
Wang SV, Li N, Rice DS, Grosskreutz CL, Dryja TP, Prasanna G, Lii J, Gagne JJ
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.
Using Healthcare Databases to Refine Understanding of Exploratory Associations Between Drugs and Progression of Open-Angle Glaucoma.
Associate Professor of Ophthalmology, Part-time
William F. Chatlos Professor of Ophthalmology
Bullard Professor of Genetics and Neuroscience
Cortes Barrantes P, Jakobiec FA, Dryja TP
A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma. Semin Ophthalmol. 2019; 34(4):243-251.
A Review of the Role of Cytogenetics in the Diagnosis of Orbital Rhabdomyosarcoma.
A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases. Semin Ophthalmol. 2019; 34(4):223-231.
A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases.
Assistant Professor of Otolaryngology Head and Neck Surgery
Complement Proteins in the Retina in Cancer-Associated Retinopathy. JAMA Ophthalmol. 2019 12 01; 137(12):1458-1460.
Complement Proteins in the Retina in Cancer-Associated Retinopathy.
Berry JL, Polski A, Cavenee WK, Dryja TP, Murphree AL, Gallie BL
The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. Genes (Basel). 2019 11 01; 10(11).
The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene.
Dodd MU, Wolkow N, Cunnane ME, Ma L, Dryja TP, Hunter D
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Isolated orbital amyloidosis causing internal and external ophthalmoplegia. J AAPOS. 2020 02; 24(1):48-51.e1.
Isolated orbital amyloidosis causing internal and external ophthalmoplegia.
Molecular Genetics of Intraocular Tumors. Semin Ophthalmol. 2020 Apr 02; 35(3):174-181.
Molecular Genetics of Intraocular Tumors.
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
Overlapping Immunohistochemical Features of Adenocarcinoma of the Nonpigmented Ciliary Body Epithelium and Renal Cell Carcinoma. Am J Ophthalmol. 2021 06; 226:191-200.
Overlapping Immunohistochemical Features of Adenocarcinoma of the Nonpigmented Ciliary Body Epithelium and Renal Cell Carcinoma.
Demirs JT, Yang J, Crowley MA, Twarog M, Delgado O, Qiu Y, Poor S, Rice DS, Dryja TP, Anderson K, Liao SM
Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):26.
Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration.
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
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.
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.
Johns LK, Leon P, Cortes-Barrantes P, Hanbazazh M, Zurakowski D, Dryja TP, Ciolino JB
Recurrent keratoconus: an analysis of breaks in Bowman's layer in corneal grafts. BMJ Open Ophthalmol. 2023 04; 8(1).
Recurrent keratoconus: an analysis of breaks in Bowman's layer in corneal grafts.
Poor SH, Qiu Y, Fassbender ES, Shen S, Woolfenden A, Delpero A, Kim Y, Buchanan N, Gebuhr TC, Hanks SM, Meredith EL, Jaffee BD, Dryja TP
Reliability of the mouse model of choroidal neovascularization induced by laser photocoagulation. Invest Ophthalmol Vis Sci. 2014 Sep 09; 55(10):6525-34.
Reliability of the mouse model of choroidal neovascularization induced by laser photocoagulation.
Kiss S, Gragoudas ES, Dryja TP, Jakobiec FA
Response of choroidal leiomyoma to treatment with proton beam radiation. Retin Cases Brief Rep. 2010; 4(2):168-73.
Response of choroidal leiomyoma to treatment with proton beam radiation.
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
Molecular therapy. Methods & clinical development
AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice. Mol Ther Methods Clin Dev. 2015; 2:15022.
AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice.
Grosskreutz CL, Hockey HU, Serra D, Dryja TP
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.
Dry Eye Signs and Symptoms Persist During Systemic Neutralization of IL-1ß by Canakinumab or IL-17A by Secukinumab.
MOLECULAR GENETICS OF RETINOBLASTOMA AND CHROMOSOME 13
Sibling Study of Age-Related Macular Degeneration
COMPLETE GENOMIC SEQUENCE OF THE RETINOBLASTOMA GENE
CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS
MOLECULAR GENETIC STUDIES OF RETINITIS PIGMENTOSA
GENETIC BASIS FOR THE SEVERITY OF RETINITIS PIGMENTOSA
Early Insight Into Neovascular Age-Related Macular Degeneration. JAMA Ophthalmol. 2016 11 01; 134(11):1281-1282.
Early Insight Into Neovascular Age-Related Macular Degeneration.
Khani SC, Abitbol M, Yamamoto S, Maravic-Magovcevic I, Dryja TP
Characterization and chromosomal localization of the gene for human rhodopsin kinase. Genomics. 1996 Aug 01; 35(3):571-6.
Characterization and chromosomal localization of the gene for human rhodopsin kinase.
Sippel KC, DeStefano JD, Berson EL, Dryja TP
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.
Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
The best excitement in age-related macular degeneration. Arch Ophthalmol. 1999 Jan; 117(1):108-9.
The best excitement in age-related macular degeneration.
Transactions of the American Ophthalmological Society
Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. Trans Am Ophthalmol Soc. 1991; 89:117-28; discussion 128-30.
Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.
Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. Mol Vis. 2004 Jan 26; 10:62-4.
Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP
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.
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
Sandberg MA, Pawlyk BS, Dan J, Arnaud B, Dryja TP, Berson EL
Rod and cone function in the Nougaret form of stationary night blindness. Arch Ophthalmol. 1998 Jul; 116(7):867-72.
Rod and cone function in the Nougaret form of stationary night blindness.
Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson EL, Dryja TP, Baehr W
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.
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
Morimura H, Saindelle-Ribeaudeau F, Berson EL, Dryja TP
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. Nat Genet. 1999 Dec; 23(4):393-4.
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998 Mar; 62(3):610-9.
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
[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.
[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma].
Ocular findings in spinocerebellar ataxia 7. Arch Ophthalmol. 2002 May; 120(5):655-9.
Ocular findings in spinocerebellar ataxia 7.
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
Long-acting protein drugs for the treatment of ocular diseases. Nat Commun. 2017 03 23; 8:14837.
Long-acting protein drugs for the treatment of ocular diseases.
Yamamoto S, Sippel KC, Berson EL, Dryja TP
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet. 1997 Feb; 15(2):175-8.
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
Rivolta C, Sharon D, DeAngelis MM, Dryja TP
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May 15; 11(10):1219-27.
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature. 2004 Jan 01; 427(6969):75-8.
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells. Mutat Res. 1990 Mar; 229(1):89-102.
Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.
Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Ophthalmic Genet. 2005 Sep; 26(3):119-24.
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
Cotran PR, Bruns GA, Berson EL, Dryja TP
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.
Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase.
Norrie disease. Diagnosis of a simplex case by DNA analysis. Arch Ophthalmol. 1996 Sep; 114(9):1136-8.
Norrie disease. Diagnosis of a simplex case by DNA analysis.
Chahud F, Young RH, Remulla JF, Khadem JJ, Dryja TP
The American journal of surgical pathology
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.
Bilateral diffuse uveal melanocytic proliferation associated with extraocular cancers: review of a process particularly associated with gynecologic cancers.
Fernandez-Suntay JP, Gragoudas ES, Ferry JA, Anderson ME, Dacey MP, Dryja TP
High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome. Arch Ophthalmol. 2002 Oct; 120(10):1383-5.
High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome.
DeAngelis MM, Lane AM, Shah CP, Ott J, Dryja TP, Miller JW
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. Arch Ophthalmol. 2004 Apr; 122(4):575-80.
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration.
Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999 Jun; 22(2):188-91.
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Dryja TP, McEvoy JA, McGee TL, Berson EL
Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000 Sep; 41(10):3124-7.
Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.
Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet. 1991 May; 48(5):880-8.
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.
Wang X, Xu S, Rivolta C, Li LY, Peng GH, Swain PK, Sung CH, Swaroop A, Berson EL, Dryja TP, Chen S
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.
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
[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.
[Gene diagnosis and genetic counselling of Rb gene mutations in retinoblastoma patients and their family members].
Dryja TP, Rucinski DE, Chen SH, Berson EL
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.
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
Akpek EK, Ahmed I, Hochberg FH, Soheilian M, Dryja TP, Jakobiec FA, Foster CS
Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes. Ophthalmology. 1999 Sep; 106(9):1805-10.
Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes.
Dudenhoefer EJ, Nouri M, Gipson IK, Baratz KH, Tisdale AS, Dryja TP, Abad JC, Dohlman CH
Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation. Cornea. 2003 Jul; 22(5):424-8.
Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation.
Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP
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.
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
DNA testing for retinoblastoma. Arch Ophthalmol. 1991 Sep; 109(9):1210.
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene. Hum Genet. 1997 Sep; 100(3-4):446-9.
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.
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.
No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.
Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Mol Vis. 2003 Feb 18; 9:49-51.
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
Histopathological classification of 272 primary epithelial tumors of the lacrimal gland. Chin Med J (Engl). 1992 Jun; 105(6):481-5.
Histopathological classification of 272 primary epithelial tumors of the lacrimal gland.
Travis GH, Christerson L, Danielson PE, Klisak I, Sparkes RS, Hahn LB, Dryja TP, Sutcliffe JG
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics. 1991 Jul; 10(3):733-9.
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec; 49(12):5532-9.
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003 Nov; 73(5):1131-46.
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP
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.
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.
Cotran PR, Ringens PJ, Crabb JW, Berson EL, Dryja TP
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.
Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA.
Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley. Arch Ophthalmol. 2012 Jan; 130(1):111-2.
Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley.
Walton DS, Mukai S, Grabowski EF, Munzenrider JE, Dryja TP
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.
Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye.
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.
Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments.
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.
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
Horowitz JM, Park SH, Bogenmann E, Cheng JC, Yandell DW, Kaye FJ, Minna JD, Dryja TP, Weinberg RA
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.
Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells.
Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet. 2008 Oct; 40(10):1230-4.
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.
Zhou EH, Paolucci M, Dryja TP, Manley T, Xiang C, Rice DS, Prasanna G, Chen A
A Compact Whole-Eye Perfusion System to Evaluate Pharmacologic Responses of Outflow Facility. Invest Ophthalmol Vis Sci. 2017 06 01; 58(7):2991-3003.
A Compact Whole-Eye Perfusion System to Evaluate Pharmacologic Responses of Outflow Facility.
DeAngelis MM, Ji F, Kim IK, Adams S, Capone A, Ott J, Miller JW, Dryja TP
Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol. 2007 Jan; 125(1):49-54.
Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.
Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS
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.
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, Sweeney MO, Capone A, Miller JW, Dryja TP, Ott J, Kim IK
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.
Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.
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.
Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas.
Afshari NA, Mullally JE, Afshari MA, Steinert RF, Adamis AP, Azar DT, Talamo JH, Dohlman CH, Dryja TP
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.
Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
Liao SM, Zheng W, Zhu J, Lewis CA, Delgado O, Crowley MA, Buchanan NM, Jaffee BD, Dryja TP
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.
Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1.
Howard MA, Dryja TP, Walton DS, Albert DM
Identification and significance of multinucleate tumor cells in retinoblastoma. Arch Ophthalmol. 1989 Jul; 107(7):1025-30.
Identification and significance of multinucleate tumor cells in retinoblastoma.
Dryja TP, Hahn LB, Cowley GS, McGee TL, Berson EL
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.
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP
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.
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP
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.
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
Retinitis pigmentosa. Lancet. 2006 Nov 18; 368(9549):1795-809.
Albert DM, Puliafito CA, Fulton AB, Robinson NL, Zakov ZN, Dryja TP, Smith AB, Egan E, Leffingwell SS
Increased incidence of choroidal malignant melanoma occurring in a single population of chemical workers. Am J Ophthalmol. 1980 Mar; 89(3):323-37.
Increased incidence of choroidal malignant melanoma occurring in a single population of chemical workers.
Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992 Jun; 1(3):209-13.
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
Parminder AH, Murakami A, Inana G, Berson EL, Dryja TP
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.
Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.
A TaqI RFLP identified at the retinoblastoma locus on chromosome 13. Nucleic Acids Res. 1988 Sep 26; 16(18):9069.
A TaqI RFLP identified at the retinoblastoma locus on chromosome 13.
Dryja TP, Rapaport JM, Epstein J, Goorin AM, Weichselbaum R, Koufos A, Cavenee WK
Chromosome 13 homozygosity in osteosarcoma without retinoblastoma. Am J Hum Genet. 1986 Jan; 38(1):59-66.
Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.
Rivolta C, Sweklo EA, Berson EL, Dryja TP
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. Am J Hum Genet. 2000 Jun; 66(6):1975-8.
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet. 1989 Oct; 45(4):547-55.
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.
Predicting the risk of hereditary retinoblastoma. Am J Ophthalmol. 1988 Sep 15; 106(3):346-51.
Predicting the risk of hereditary retinoblastoma.
Horowitz JM, Yandell DW, Park SH, Canning S, Whyte P, Buchkovich K, Harlow E, Weinberg RA, Dryja TP
Point mutational inactivation of the retinoblastoma antioncogene. Science. 1989 Feb 17; 243(4893):937-40.
Point mutational inactivation of the retinoblastoma antioncogene.
Dryja TP, Bruns GA, Orkin SH, Albert DM, Gerald PS
Isolation of DNA fragments from chromosome 13. Retina. 1983; 3(2):121-5.
Isolation of DNA fragments from chromosome 13.
Adenocarcinoma arising from the epithelium of the iris and ciliary body. Int Ophthalmol Clin. 1980; 20(2):177-90.
Adenocarcinoma arising from the epithelium of the iris and ciliary body.
Adenocarcinoma arising from the epithelium of the ciliary body. Ophthalmology. 1981 Dec; 88(12):1290-2.
Adenocarcinoma arising from the epithelium of the ciliary body.
McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP
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.
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
Ohtani-Fujita N, Fujita T, Takahashi R, Robbins PD, Dryja TP, Sakai T
A silencer element in the retinoblastoma tumor-suppressor gene. Oncogene. 1994 Jun; 9(6):1703-11.
A silencer element in the retinoblastoma tumor-suppressor gene.
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.
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
Tulvatana W, Adamian M, Berson EL, Dryja TP
Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance. Arch Ophthalmol. 1999 Mar; 117(3):399-402.
Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance.
Pierce EA, Quinn T, Meehan T, McGee TL, Berson EL, Dryja TP
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet. 1999 Jul; 22(3):248-54.
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP
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.
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
Rivolta C, Peck NE, Fulton AB, Fishman GA, Berson EL, Dryja TP
Novel frameshift mutations in CRX associated with Leber congenital amaurosis. Hum Mutat. 2001 Dec; 18(6):550-1.
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
A "negative" temporal artery biopsy, positive for arteritis. Arch Ophthalmol. 2004 Jul; 122(7):1074-5.
A "negative" temporal artery biopsy, positive for arteritis.
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.
Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.
den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL
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.
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
Yandell DW, Campbell TA, Dayton SH, Petersen R, Walton D, Little JB, McConkie-Rosell A, Buckley EG, Dryja TP
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. N Engl J Med. 1989 Dec 21; 321(25):1689-95.
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
Yamamoto S, Khani SC, Berson EL, Dryja TP
Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. Exp Eye Res. 1997 Aug; 65(2):249-53.
Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa.
Symposium on Fundamental Cancer Research
Genetic sequences that predispose to retinoblastoma and osteosarcoma. Symp Fundam Cancer Res. 1986; 39:115-9.
Genetic sequences that predispose to retinoblastoma and osteosarcoma.
D'Amico DJ, Dryja TP, Tyo MA, Craft JL, Albert DM
Mass cultivation of bovine ocular pigment epithelial cells in microcarrier suspension culture. Invest Ophthalmol Vis Sci. 1982 Sep; 23(3):332-9.
Mass cultivation of bovine ocular pigment epithelial cells in microcarrier suspension culture.
McLaughlin ME, Sandberg MA, Berson EL, Dryja TP
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.
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
Cohen JG, Dryja TP, Davis KB, Diller LR, Li FP
RB1 genetic testing as a clinical service: a follow-up study. Med Pediatr Oncol. 2001 Oct; 37(4):372-8.
RB1 genetic testing as a clinical service: a follow-up study.
DeAngelis MM, Grimsby JL, Sandberg MA, Berson EL, Dryja TP
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Arch Ophthalmol. 2002 Mar; 120(3):369-75.
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. Invest Ophthalmol Vis Sci. 2001 Sep; 42(10):2229-36.
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Mandeville JT, Roh JH, Woog JJ, Gonnering RS, Levin PS, Mazzoli RA, Ainbinder DJ, Older JJ, Moulin AP, Kiel R, Kim YD, Dryja TP
Ophthalmic plastic and reconstructive surgery
Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management. Ophthalmic Plast Reconstr Surg. 2004 Mar; 20(2):110-6.
Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management.
Ringens PJ, Fang M, Shinohara T, Bridges CD, Lerea CL, Berson EL, Dryja TP
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.
Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.
Ben-Arie-Weintrob Y, Berson EL, Dryja TP
Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases. Ophthalmic Genet. 2005 Jun; 26(2):91-100.
Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements. Retina. 2005 Dec; 25(8 Suppl):S13-S14.
Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements.
Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci. 2007 Mar; 48(3):1298-304.
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Hartong DT, McGee TL, Sandberg MA, Berson EL, Asselbergs FW, van der Harst P, De Vivo I, Dryja TP
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.
Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.
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.
Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.
Berson EL, Rosner B, Sandberg MA, Dryja TP
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.
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).
Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Dryja TP
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol. 1991 May 15; 111(5):614-23.
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
Light stimulation of iris tyrosinase in vivo. Invest Ophthalmol Vis Sci. 1980 May; 19(5):559-62.
Light stimulation of iris tyrosinase in vivo.
Magovcevic I, Weremowicz S, Morton CC, Fong SL, Berson EL, Dryja TP
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.
Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease.
Kajiwara K, Hahn LB, Mukai S, Travis GH, Berson EL, Dryja TP
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991 Dec 12; 354(6353):480-3.
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Foster BS, Fernandez-Suntay JP, Dryja TP, Jakobiec FA, D'Amico DJ
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.
Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma.
Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP
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.
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Importance of genotyping in clinical trials of inherited and orphan retinal diseases. Retina. 2005 Dec; 25(8 Suppl):S74.
Importance of genotyping in clinical trials of inherited and orphan retinal diseases.
Kim IK, Dryja TP, Lessell S, Gragoudas ES
Melanocytoma of the optic nerve associated with sound-induced phosphenes. Arch Ophthalmol. 2006 Feb; 124(2):273-7.
Melanocytoma of the optic nerve associated with sound-induced phosphenes.
Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, Sandberg MA, Berson EL
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990 Nov 08; 323(19):1302-7.
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet. 1995 Dec; 11(4):468-71.
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP
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.
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene. 1989 Aug 01; 80(1):119-28.
Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.
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
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.
Effects of AIN457, a fully human antibody to interleukin-17A, on psoriasis, rheumatoid arthritis, and uveitis.
Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW
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.
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Age at menarche and exposure to light. N Engl J Med. 1977 Sep 01; 297(9):512-3.
Wolkow N, Jakobiec FA, Dryja TP, Lefebvre DR
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.
Mild Complications or Unusual Persistence of Porcine Collagen and Hyaluronic Acid Gel Following Periocular Filler Injections.
Ma L, Jakobiec FA, Wolkow N, Dryja TP, Borodic GE
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.
Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma.
Squire J, Dryja TP, Dunn J, Goddard A, Hofmann T, Musarella M, Willard HF, Becker AJ, Gallie BL, Phillips RA
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.
Cloning of the esterase D gene: a polymorphic gene probe closely linked to the retinoblastoma locus on chromosome 13.
Halloran SL, Boughman JA, Dryja TP, Mukai S, Long D, Roberts DF, Craft AW
Accuracy of detection of the retinoblastoma gene by esterase D linkage. Arch Ophthalmol. 1985 Sep; 103(9):1329-31.
Accuracy of detection of the retinoblastoma gene by esterase D linkage.
Dunphy EB, Dryja TP, Albert DM, Smith TR
Melanocytic tumor of the anterior uvea. Am J Ophthalmol. 1978 Nov; 86(5):680-3.
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993 Jul; 4(3):280-3.
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
Molecular genetics of retinitis pigmentosa. Hum Mol Genet. 1995; 4 Spec No:1739-43.
Molecular genetics of retinitis pigmentosa.
Sakai K, Kanda N, Shiloh Y, Donlon T, Schreck R, Shipley J, Dryja T, Chaum E, Chaganti RS, Latt S
Molecular and cytologic analysis of DNA amplification in retinoblastoma. Cancer Genet Cytogenet. 1985 Jun; 17(2):95-112.
Molecular and cytologic analysis of DNA amplification in retinoblastoma.
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
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. Cancer Genet Cytogenet. 1997 Oct 01; 98(1):43-9.
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma.
Sharon D, Blackshaw S, Cepko CL, Dryja TP
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.
Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).
McGee TL, Devoto M, Ott J, Berson EL, Dryja TP
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.
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.
Oncogenes and tumor-suppressing genes. N Engl J Med. 1988 Mar 10; 318(10):618-22.
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye (Lond). 1992; 6 ( Pt 1):1-10.
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). Invest Ophthalmol Vis Sci. 2001 Sep; 42(10):2217-24.
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Lack of adrenergic influence on the pigmentation of iris nevus cells. Arch Ophthalmol. 1980 Nov; 98(11):1996.
Lack of adrenergic influence on the pigmentation of iris nevus cells.
Morimura H, Fishman GA, Grover SA, Fulton AB, Berson EL, Dryja TP
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.
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.