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profileThaddeus Peter Dryja, M.D.

TitleProfessor of Ophthalmology, Part-time
InstitutionMassachusetts Eye and Ear Infirmary
DepartmentOphthalmology
AddressMassachusetts Eye & Ear Infrm
3rd ffloor, Cogan Eye Pathology Lab
243 Charles St
Boston MA 02114
Phone617/573-3319
Fax617/573-3168
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Collapse Research 
Collapse research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
Most Recent  |  List All
R01EY014458     (DEANGELIS, MARGARET M)Dec 1, 2002 - Aug 31, 2012
NIH/NEI
Sibling Study of Age-Related Macular Degeneration
Role: Co-Principal Investigator
P30EY014104     (WIGGS, JANEY L)Apr 1, 2002 - Aug 31, 2019
NIH/NEI
P-30 Core Grant for Vision Research
Role: Co-Principal Investigator
R01EY011655     (DRYJA, THADDEUS P)Jul 1, 1997 - Dec 31, 2002
NIH/NEI
GENETIC BASIS FOR THE SEVERITY OF RETINITIS PIGMENTOSA
Role: Principal Investigator
R01EY010309     (SANDBERG, MICHAEL A)Jan 1, 1994 - Mar 31, 2010
NIH/NEI
Models of Photoreceptor Disease
Role: Co-Principal Investigator
R01EY008683     (DRYJA, THADDEUS P)Aug 1, 1990 - Nov 30, 2006
NIH/NEI
CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS
Role: Principal Investigator

Collapse Bibliographic 
Collapse selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. 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. PMID: 28659708.
    View in: PubMed
  2. 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 Jun 01; 58(7):2991-3003. PMID: 28605810.
    View in: PubMed
  3. 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 Mar 23; 8:14837. PMID: 28332616.
    View in: PubMed
  4. Dryja TP. Early Insight Into Neovascular Age-Related Macular Degeneration. JAMA Ophthalmol. 2016 Nov 01; 134(11):1281-1282. PMID: 27657333.
    View in: PubMed
  5. 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. PMID: 26418434; PMCID: PMC4633966.
    View in: PubMed, PubMed Central
  6. 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. AAV-mediated RLBP1 gene therapy improves the rate of dark adaptation in Rlbp1 knockout mice. Mol Ther Methods Clin Dev. 2015; 2:15022. PMID: 26199951; PMCID: PMC4495722.
    View in: PubMed, PubMed Central
  7. 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. PMID: 25205860.
    View in: PubMed
  8. Dryja TP. Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley. Arch Ophthalmol. 2012 Jan; 130(1):111-2. PMID: 22232480.
    View in: PubMed
  9. 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. PMID: 20926833.
    View in: PubMed
  10. 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. PMID: 20507924; PMCID: PMC3070405.
    View in: PubMed, PubMed Central
  11. 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. PMID: 25390394.
    View in: PubMed
  12. 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. PMID: 19325938; PMCID: PMC2661004.
    View in: PubMed, PubMed Central
  13. 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. PMID: 19074801; PMCID: PMC2823395.
    View in: PubMed, PubMed Central
  14. Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M. Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. Doc Ophthalmol. 2009 Jun; 118(3):233-8. PMID: 18949499.
    View in: PubMed
  15. 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. PMID: 18806796; PMCID: PMC2596605.
    View in: PubMed, PubMed Central
  16. 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. PMID: 18704199; PMCID: PMC2515825.
    View in: PubMed, PubMed Central
  17. 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. PMID: 18641288; PMCID: PMC2588642.
    View in: PubMed, PubMed Central
  18. 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. PMID: 18164066; PMCID: PMC4242506.
    View in: PubMed, PubMed Central
  19. 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. PMID: 17896311.
    View in: PubMed
  20. 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. PMID: 17476461.
    View in: PubMed
  21. 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. PMID: 17438524; PMCID: PMC2669503.
    View in: PubMed, PubMed Central
  22. 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. PMID: 17325176.
    View in: PubMed
  23. Choopong P, Nielsen PG, Perlman EM, Huang JJ, Dryja TP, Foster CS. Solitary myofibroma of the sclera. Cornea. 2007 Jan; 26(1):114-6. PMID: 17198028.
    View in: PubMed
  24. 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. PMID: 17210851.
    View in: PubMed
  25. Rivolta C, Berson EL, Dryja TP. 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. PMID: 17167409.
    View in: PubMed
  26. 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. PMID: 17167406.
    View in: PubMed
  27. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18; 368(9549):1795-809. PMID: 17113430.
    View in: PubMed
  28. 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. PMID: 17056466.
    View in: PubMed
  29. 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. PMID: 16708387.
    View in: PubMed
  30. 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. PMID: 16481642.
    View in: PubMed
  31. 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. PMID: 16476900.
    View in: PubMed
  32. Dryja TP. Importance of genotyping in clinical trials of inherited and orphan retinal diseases. Retina. 2005 Dec; 25(8 Suppl):S74. PMID: 16374348.
    View in: PubMed
  33. Dryja TP. Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements. Retina. 2005 Dec; 25(8 Suppl):S13-S14. PMID: 16374317.
    View in: PubMed
  34. 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. PMID: 16272056.
    View in: PubMed
  35. 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. PMID: 15937078; PMCID: PMC1736086.
    View in: PubMed, PubMed Central
  36. 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. PMID: 16020312.
    View in: PubMed
  37. 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. PMID: 15851576.
    View in: PubMed
  38. 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. PMID: 15781871; PMCID: PMC555731.
    View in: PubMed, PubMed Central
  39. 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. PMID: 15712225.
    View in: PubMed
  40. 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. PMID: 15591106; PMCID: PMC535407.
    View in: PubMed, PubMed Central
  41. 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. PMID: 15505030; PMCID: PMC1475955.
    View in: PubMed, PubMed Central
  42. 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. PMID: 15325563.
    View in: PubMed
  43. Chiu CS, Dryja TP, Lessell S. A "negative" temporal artery biopsy, positive for arteritis. Arch Ophthalmol. 2004 Jul; 122(7):1074-5. PMID: 15249381.
    View in: PubMed
  44. 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. PMID: 15078676.
    View in: PubMed
  45. Mandeville JT, Roh JH, Woog JJ, Gonnering RS, Levin PS, Mazzoli RA, Ainbinder DJ, Older JJ, Moulin AP, Kiel R, Kim YD, Dryja TP. Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management. Ophthal Plast Reconstr Surg. 2004 Mar; 20(2):110-6. PMID: 15083078.
    View in: PubMed
  46. Nishiguchi KM, Berson EL, Dryja TP. Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. Mol Vis. 2004 Jan 26; 10:62-4. PMID: 14758335.
    View in: PubMed
  47. 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. PMID: 14702087.
    View in: PubMed
  48. 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. PMID: 14718298.
    View in: PubMed
  49. 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. PMID: 14564670; PMCID: PMC1180492.
    View in: PubMed, PubMed Central
  50. 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. PMID: 12963616.
    View in: PubMed
  51. 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. PMID: 12827047.
    View in: PubMed
  52. 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. PMID: 12592226.
    View in: PubMed
  53. 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. PMID: 12583798.
    View in: PubMed
  54. Rivolta C, Berson EL, Dryja TP. 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. PMID: 12427073.
    View in: PubMed
  55. 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. PMID: 12365922.
    View in: PubMed
  56. 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. PMID: 12215455.
    View in: PubMed
  57. 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. PMID: 12202526.
    View in: PubMed
  58. To K, Adamian M, Dryja TP, Berson EL. 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. PMID: 12140048.
    View in: PubMed
  59. 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. PMID: 12037007.
    View in: PubMed
  60. 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. PMID: 12015282.
    View in: PubMed
  61. McLaughlin ME, Dryja TP. Ocular findings in spinocerebellar ataxia 7. Arch Ophthalmol. 2002 May; 120(5):655-9. PMID: 12003621.
    View in: PubMed
  62. 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. PMID: 11879142.
    View in: PubMed
  63. Glazer LC, Dryja TP. Understanding the etiology of Stargardt's disease. Ophthalmol Clin North Am. 2002 Mar; 15(1):93-100, viii. PMID: 12064087.
    View in: PubMed
  64. D'Amico DJ, Dryja T. 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. PMID: 11796854.
    View in: PubMed
  65. 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. PMID: 11756676; PMCID: PMC117558.
    View in: PubMed, PubMed Central
  66. 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. PMID: 11748859.
    View in: PubMed
  67. Rivolta C, Berson EL, Dryja TP. 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. PMID: 11748842.
    View in: PubMed
  68. 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. PMID: 11568901.
    View in: PubMed
  69. 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. PMID: 11527935.
    View in: PubMed
  70. 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. PMID: 11527933.
    View in: PubMed
  71. 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. PMID: 11283794; PMCID: PMC1226111.
    View in: PubMed, PubMed Central
  72. 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. PMID: 11239869.
    View in: PubMed
  73. Chahud F, Young RH, Remulla JF, Khadem JJ, Dryja TP. 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. PMID: 11176070.
    View in: PubMed
  74. 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. PMID: 11146721.
    View in: PubMed
  75. To K, Adamian M, Dryja TP, Berson EL. 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. PMID: 11124299.
    View in: PubMed
  76. Dryja TP. 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. PMID: 11078833.
    View in: PubMed
  77. 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. PMID: 10967073.
    View in: PubMed
  78. 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. PMID: 10937588.
    View in: PubMed
  79. 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. PMID: 10930322.
    View in: PubMed
  80. 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. PMID: 10775529; PMCID: PMC1378039.
    View in: PubMed, PubMed Central
  81. 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. PMID: 10581022.
    View in: PubMed
  82. Dryja TP, McEvoy J, McGee TL, Berson EL. 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. PMID: 10441600; PMCID: PMC1378000.
    View in: PubMed, PubMed Central
  83. 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. PMID: 10485554.
    View in: PubMed
  84. 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. PMID: 10393062.
    View in: PubMed
  85. 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. PMID: 10391211.
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  86. 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. PMID: 10369264.
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  87. Morimura H, Berson EL, Dryja TP. 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. PMID: 10102299.
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  88. Hagstrom SA, Dryja TP. 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. PMID: 10077618; PMCID: PMC15876.
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  89. 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. PMID: 10088824.
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  90. 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. PMID: 10338096.
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  91. Dryja TP. The best excitement in age-related macular degeneration. Arch Ophthalmol. 1999 Jan; 117(1):108-9. PMID: 9930170.
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  92. 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. PMID: 9751768; PMCID: PMC21743.
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  93. 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. PMID: 9682699.
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  94. Huang Q, Dryja TP, Yandell DW. [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. PMID: 9621119.
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  95. Huang Q, Dryja TP, Yandell DW. [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. PMID: 9531640.
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  96. 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. PMID: 9501220; PMCID: PMC19699.
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  97. 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. PMID: 9501883.
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  98. 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. PMID: 9497263; PMCID: PMC1376960.
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  99. 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. PMID: 9462750.
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  100. 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. PMID: 9345108; PMCID: PMC1716046.
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  101. Dryja TP. Gene-based approach to human gene-phenotype correlations. Proc Natl Acad Sci U S A. 1997 Oct 28; 94(22):12117-21. PMID: 9342372; PMCID: PMC23721.
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  102. 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. PMID: 9309117.
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  103. 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. PMID: 9331261.
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  104. Dryja TP, Morrow JF, Rapaport JM. Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene. Hum Genet. 1997 Sep; 100(3-4):446-9. PMID: 9272170.
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  105. 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. PMID: 9268593.
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  106. 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. PMID: 9071225.
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  107. 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. PMID: 9020843.
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  108. Li T, Snyder WK, Olsson JE, Dryja TP. 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. PMID: 8943080; PMCID: PMC19513.
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  109. Chynn EW, Walton DS, Hahn LB, Dryja TP. Norrie disease. Diagnosis of a simplex case by DNA analysis. Arch Ophthalmol. 1996 Sep; 114(9):1136-8. PMID: 8790105.
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  110. 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. PMID: 8812493.
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  111. Dryja TP, Hahn LB, Reboul T, Arnaud B. 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. PMID: 8673138.
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  112. 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. PMID: 7493036.
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  113. 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. PMID: 8599155.
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  114. 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. PMID: 7479749; PMCID: PMC40759.
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  115. 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. PMID: 7558711.
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  116. 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. PMID: 7635666.
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  117. Dryja TP, Berson EL. Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity. Invest Ophthalmol Vis Sci. 1995 Jun; 36(7):1197-200. PMID: 7775097.
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  118. 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. PMID: 7724596; PMCID: PMC42205.
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  119. 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. PMID: 7724547; PMCID: PMC42143.
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  120. 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. PMID: 7774932.
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  121. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet. 1995; 4 Spec No:1739-43. PMID: 8541873.
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  122. 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. PMID: 7891370; PMCID: PMC1016688.
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  123. Kim SK, Haines JL, Berson EL, Dryja TP. Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance. Genomics. 1994 Aug; 22(3):659-660. PMID: 8001983.
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  124. Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 1994 Jun 10; 264(5165):1604-8. PMID: 8202715.
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  125. 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. PMID: 8183566.
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  126. Seminara SB, Dryja TP. Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34. PMID: 8005586.
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  127. Vaithinathan R, Berson EL, Dryja TP. Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics. 1994 May 15; 21(2):461-3. PMID: 8088850.
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  128. 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. PMID: 8163343.
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  129. Hahn LB, Berson EL, Dryja TP. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1994 Mar; 35(3):1077-82. PMID: 8125719.
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  130. 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. PMID: 7902321.
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  131. Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993 Jul; 4(3):280-3. PMID: 8358437.
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  132. 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. PMID: 8394174.
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  133. 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. PMID: 8099255; PMCID: PMC1682279.
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  134. 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. PMID: 8485575.
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  135. Shokravi MT, Dryja TP. Retinitis pigmentosa and the rhodopsin gene. Int Ophthalmol Clin. 1993; 33(2):219-28. PMID: 8325735.
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  136. 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. PMID: 1418997.
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  137. Ni C, Kuo PK, Dryja TP. Histopathological classification of 272 primary epithelial tumors of the lacrimal gland. Chin Med J (Engl). 1992 Jun; 105(6):481-5. PMID: 1333391.
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  138. 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. PMID: 1303237.
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  139. Dryja TP. Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye (Lond). 1992; 6 ( Pt 1):1-10. PMID: 1358680.
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  140. 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. PMID: 1684223.
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  141. 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. PMID: 1683837.
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  142. 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. PMID: 1833777; PMCID: PMC52716.
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  143. 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. PMID: 1881452.
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  144. Dryja TP. DNA testing for retinoblastoma. Arch Ophthalmol. 1991 Sep; 109(9):1210. PMID: 1929952.
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  145. 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. PMID: 1679750.
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  146. 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. PMID: 2021172.
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  147. 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. PMID: 1673287; PMCID: PMC1683063.
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  148. Berson EL, Sandberg MA, Dryja TP. Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine. Trans Am Ophthalmol Soc. 1991; 89:117-28; discussion 128-30. PMID: 1808803; PMCID: PMC1298619.
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  149. 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. PMID: 1987956.
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  150. 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. PMID: 2215617.
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  151. Dryja TP. Human genetics. Deficiencies in sight with the candidate gene approach. Nature. 1990 Oct 18; 347(6294):614. PMID: 2215691.
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  152. 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. PMID: 1975683; PMCID: PMC332036.
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  153. 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. PMID: 1974891.
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  154. 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. PMID: 1973655.
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  155. 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. PMID: 2181449; PMCID: PMC53773.
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  156. Yandell DW, Dryja TP, Little JB. Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells. Mutat Res. 1990 Mar; 229(1):89-102. PMID: 1969112.
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  157. 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. PMID: 2137202.
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  158. 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. PMID: 1968623; PMCID: PMC330247.
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  159. 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. PMID: 2594029.
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  160. Yandell DW, Dryja TP. Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am J Hum Genet. 1989 Oct; 45(4):547-55. PMID: 2577468; PMCID: PMC1683510.
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  161. Bernards R, Shackleford GM, Schackleford GM, Gerber MR, Horowitz JM, Friend SH, Schartl M, Bogenmann E, Rapaport JM, McGee T, Dryja TP, et al. 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. PMID: 2671991; PMCID: PMC297866.
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  162. McGee TL, Yandell DW, Dryja TP. Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene. 1989 Aug 01; 80(1):119-28. PMID: 2701949.
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  163. Canning S, Dryja TP. 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. PMID: 2740342; PMCID: PMC297553.
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  164. 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. PMID: 2751457.
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  165. 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. PMID: 2733786.
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  166. 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. PMID: 2521957.
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  167. Shiang R, Murray JC, Wiggs J, Dryja T. A TaqI RFLP identified at the retinoblastoma locus on chromosome 13. Nucleic Acids Res. 1988 Sep 26; 16(18):9069. PMID: 2902570; PMCID: PMC338679.
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  168. Wiggs JL, Dryja TP. Predicting the risk of hereditary retinoblastoma. Am J Ophthalmol. 1988 Sep 15; 106(3):346-51. PMID: 3048110.
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  169. Friend SH, Dryja TP, Weinberg RA. Oncogenes and tumor-suppressing genes. N Engl J Med. 1988 Mar 10; 318(10):618-22. PMID: 3278233.
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  170. Albert DM, Dryja TP. Recent studies of the retinoblastoma gene. What it means to the ophthalmologist. Arch Ophthalmol. 1988 Feb; 106(2):181-2. PMID: 3422555.
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  171. 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. PMID: 2877398.
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  172. 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. PMID: 2876425; PMCID: PMC386723.
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  173. 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. PMID: 3462714; PMCID: PMC386546.
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  174. Yandell DW, Dryja TP, Little JB. 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. PMID: 3012798.
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  175. Mukai S, Dryja TP. Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma. Cancer Genet Cytogenet. 1986 May; 22(1):45-53. PMID: 3006911.
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  176. Dryja TP, Friend S, Weinberg RA. Genetic sequences that predispose to retinoblastoma and osteosarcoma. Symp Fundam Cancer Res. 1986; 39:115-9. PMID: 3480547.
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  177. 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. PMID: 3004203; PMCID: PMC1684712.
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  178. 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. PMID: 3862370.
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  179. 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. PMID: 4025464.
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  180. 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. PMID: 2986831.
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  181. 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. PMID: 3891392.
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  182. Dryja TP, Morton CC. Mapping of seven polymorphic loci on human chromosome 13 by in situ hybridization. Hum Genet. 1985; 71(3):192-5. PMID: 4065891.
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  183. 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. PMID: 6210139.
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  184. 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. PMID: 6731533.
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  185. 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. PMID: 6694706.
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  186. 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. PMID: 6425027.
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  187. Dryja TP, Rapaport JM, Weichselbaum R, Bruns GA. Chromosome 13 restriction fragment length polymorphisms. Hum Genet. 1984; 65(4):320-4. PMID: 6319270.
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  188. 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. PMID: 6633649.
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  189. Neve RL, Bruns GA, Dryja TP, Kurnit DM. Retrieval of human DNA from rodent-human genomic libraries by a recombination process. Gene. 1983 Sep; 23(3):343-54. PMID: 6628996.
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  190. 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. PMID: 6877367.
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  191. 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. PMID: 6885050.
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  192. Dryja TP, Bruns GA, Orkin SH, Albert DM, Gerald PS. Isolation of DNA fragments from chromosome 13. Retina. 1983; 3(2):121-5. PMID: 6308738.
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  193. 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. PMID: 7050004.
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  194. Ni C, Cheng SC, Dryja TP, Cheng TY. Lacrimal gland tumors: a clinicopathological analysis of 160 cases. Int Ophthalmol Clin. 1982; 22(1):99-120. PMID: 6277818.
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  195. Ni C, Dryja TP, Albert DM. Sweat gland tumors in the eyelids: a clinicopathological analysis of 55 cases. Int Ophthalmol Clin. 1982; 22(1):1-22. PMID: 6277816.
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  196. Dryja TP, Albert DM, Horns D. Adenocarcinoma arising from the epithelium of the ciliary body. Ophthalmology. 1981 Dec; 88(12):1290-2. PMID: 7322477.
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  197. Dryja TP, Albert DM. Lack of adrenergic influence on the pigmentation of iris nevus cells. Arch Ophthalmol. 1980 Nov; 98(11):1996. PMID: 7436833.
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  198. Dryja TP, Kimball GP, Albert DM. Light stimulation of iris tyrosinase in vivo. Invest Ophthalmol Vis Sci. 1980 May; 19(5):559-62. PMID: 6768692.
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  199. 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. PMID: 7369294.
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  200. 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. PMID: 6995393.
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  201. Dryja TP, Zakov ZN, Albert DM. Adenocarcinoma arising from the epithelium of the iris and ciliary body. Int Ophthalmol Clin. 1980; 20(2):177-90. PMID: 6995386.
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  202. Dryja TP, O'Neil-Dryja M, Albert DM. Elemental analysis of melanins from bovine hair, iris, choroid, and retinal pigment epithelium. Invest Ophthalmol Vis Sci. 1979 Mar; 18(3):231-6. PMID: 422329.
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  203. Dunphy EB, Dryja TP, Albert DM, Smith TR. Melanocytic tumor of the anterior uvea. Am J Ophthalmol. 1978 Nov; 86(5):680-3. PMID: 717526.
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  204. 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. PMID: 96039.
    View in: PubMed
  205. 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. PMID: 598423.
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  206. Dryja TP. Age at menarche and exposure to light. N Engl J Med. 1977 Sep 01; 297(9):512-3. PMID: 887139.
    View in: PubMed
  207. Faller JW, Johnson BV, Dryja TP. Orientation of pi-allyl ligand in pi-cyclopentadienyl and pi-idenyl complexes of iron and ruthenium. J Organomet Chem. 1974; 65:395-397.
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