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Thaddeus Peter Dryja, M.D.

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Research
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.
  1. R01EY014458 (DEANGELIS, MARGARET M) Dec 1, 2002 - Aug 31, 2012
    NIH
    Sibling Study of Age-Related Macular Degeneration
    Role: Co-Principal Investigator
  2. P30EY014104 (WIGGS, JANEY L) Apr 1, 2002 - Aug 31, 2024
    NIH
    P30 Core Grant for Vision Research
    Role: Co-Principal Investigator
  3. R01EY011655 (DRYJA, THADDEUS P) Jul 1, 1997 - Dec 31, 2002
    NIH
    GENETIC BASIS FOR THE SEVERITY OF RETINITIS PIGMENTOSA
    Role: Principal Investigator
  4. R01EY010309 (SANDBERG, MICHAEL A) Jan 1, 1994 - Mar 31, 2010
    NIH
    Models of Photoreceptor Disease
    Role: Co-Principal Investigator
  5. R01EY008683 (DRYJA, THADDEUS P) Aug 1, 1990 - Nov 30, 2006
    NIH
    CANDIDATE GENE STUDY OF INHERITED RETINAL DEGENERATIONS
    Role: Principal Investigator

Bibliographic
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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. 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. PMID: 34160562.
    Citations: 1     Fields:    Translation:Humans
  2. 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. PMID: 33529584.
    Citations:    Fields:    Translation:Humans
  3. Hanbazazh M, Dryja TP. Molecular Genetics of Intraocular Tumors. Semin Ophthalmol. 2020 Apr 02; 35(3):174-181. PMID: 32507011.
    Citations:    Fields:    Translation:Humans
  4. Dodd MU, Wolkow N, Cunnane ME, Ma L, Dryja TP, Hunter D. Isolated orbital amyloidosis causing internal and external ophthalmoplegia. J AAPOS. 2020 02; 24(1):48-51.e1. PMID: 31830573.
    Citations: 2     Fields:    Translation:Humans
  5. Dryja TP, Demirs JT, Twarog M, Lee V. Complement Proteins in the Retina in Cancer-Associated Retinopathy. JAMA Ophthalmol. 2019 12 01; 137(12):1458-1460. PMID: 31670788.
    Citations: 1     Fields:    Translation:Humans
  6. 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). PMID: 31683923.
    Citations: 8     Fields:    Translation:Humans
  7. 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. PMID: 31038730.
    Citations: 3     Fields:    Translation:Humans
  8. Ma L, Jakobiec FA, Dryja TP. A Review of Next-Generation Sequencing (NGS): Applications to the Diagnosis of Ocular Infectious Diseases. Semin Ophthalmol. 2019; 34(4):223-231. PMID: 31170015.
    Citations: 4     Fields:    Translation:Humans
  9. 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. PMID: 31146616.
    Citations: 1     Fields:    Translation:Humans
  10. 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. PMID: 29319639.
    Citations: 1     Fields:    Translation:Humans
  11. 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. PMID: 29351118.
    Citations:    Fields:    Translation:Humans
  12. 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. PMID: 29620729.
    Citations: 2     Fields:    
  13. 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. PMID: 29433851.
    Citations: 12     Fields:    Translation:Humans
  14. Crowley MA, Delgado O, Will-Orrego A, Buchanan NM, Anderson K, Jaffee BD, Dryja TP, Liao SM. 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. PMID: 29450541.
    Citations: 6     Fields:    Translation:Animals
  15. 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.
    Citations: 6     Fields:    Translation:HumansCells
  16. 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. PMID: 28605810.
    Citations: 6     Fields:    Translation:Animals
  17. 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. PMID: 28332616.
    Citations: 10     Fields:    Translation:HumansAnimals
  18. Dryja TP. Early Insight Into Neovascular Age-Related Macular Degeneration. JAMA Ophthalmol. 2016 11 01; 134(11):1281-1282. PMID: 27657333.
    Citations: 6     Fields:    Translation:Humans
  19. 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.
    Citations: 7     Fields:    Translation:Humans
  20. 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.
    Citations: 13     
  21. 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.
    Citations: 35     Fields:    Translation:Animals
  22. Dryja TP. Interview with Thaddeus P. Dryja, MD. Interviewed by George B. Bartley. Arch Ophthalmol. 2012 Jan; 130(1):111-2. PMID: 22232480.
    Citations:    Fields:    Translation:Humans
  23. 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.
    Citations: 328     Fields:    Translation:HumansAnimals
  24. 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.
    Citations: 62     Fields:    Translation:Humans
  25. 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.
    Citations: 1     Fields:    
  26. 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.
    Citations: 4     Fields:    Translation:HumansCells
  27. 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.
    Citations: 54     Fields:    Translation:HumansCells
  28. 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.
    Citations: 7     Fields:    Translation:HumansCells
  29. 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.
    Citations: 73     Fields:    Translation:HumansCells
  30. 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.
    Citations: 17     Fields:    Translation:HumansCells
  31. 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.
    Citations: 38     Fields:    Translation:Humans
  32. 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.
    Citations: 53     Fields:    Translation:HumansCells
  33. 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.
    Citations: 20     Fields:    Translation:HumansCells
  34. 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.
    Citations: 12     Fields:    Translation:HumansCells
  35. 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.
    Citations: 7     Fields:    Translation:Humans
  36. 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.
    Citations: 59     Fields:    Translation:Humans
  37. 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.
    Citations: 2     Fields:    Translation:Humans
  38. 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.
    Citations: 49     Fields:    Translation:Humans
  39. 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.
    Citations: 2     Fields:    Translation:Humans
  40. 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.
    Citations: 4     Fields:    Translation:Humans
  41. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18; 368(9549):1795-809. PMID: 17113430.
    Citations: 1208     Fields:    Translation:HumansAnimals
  42. 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.
    Citations: 2     Fields:    Translation:Humans
  43. 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.
    Citations: 54     Fields:    Translation:HumansCells
  44. 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.
    Citations: 2     Fields:    Translation:Humans
  45. 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.
    Citations: 2     Fields:    Translation:Humans
  46. Dryja TP. Importance of genotyping in clinical trials of inherited and orphan retinal diseases. Retina. 2005 Dec; 25(8 Suppl):S74. PMID: 16374348.
    Citations:    Fields:    Translation:Humans
  47. Dryja TP. Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements. Retina. 2005 Dec; 25(8 Suppl):S13-S14. PMID: 16374317.
    Citations:    Fields:    Translation:HumansCells
  48. 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.
    Citations: 5     Fields:    Translation:HumansCells
  49. 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.
    Citations: 31     Fields:    Translation:HumansCells
  50. 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.
    Citations: 5     Fields:    Translation:HumansCells
  51. 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.
    Citations: 13     Fields:    Translation:Humans
  52. 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.
    Citations: 116     Fields:    Translation:HumansCells
  53. 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.
    Citations: 65     Fields:    Translation:HumansCells
  54. 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.
    Citations: 40     Fields:    Translation:HumansCells
  55. 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.
    Citations: 43     Fields:    Translation:HumansAnimalsCells
  56. 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.
    Citations: 58     Fields:    Translation:Humans
  57. Chiu CS, Dryja TP, Lessell S. A "negative" temporal artery biopsy, positive for arteritis. Arch Ophthalmol. 2004 Jul; 122(7):1074-5. PMID: 15249381.
    Citations: 1     Fields:    Translation:Humans
  58. 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.
    Citations: 25     Fields:    Translation:Humans
  59. 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. Ophthalmic Plast Reconstr Surg. 2004 Mar; 20(2):110-6. PMID: 15083078.
    Citations: 5     Fields:    Translation:Humans
  60. 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.
    Citations: 3     Fields:    Translation:Humans
  61. 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.
    Citations: 73     Fields:    Translation:HumansCells
  62. 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.
    Citations: 15     Fields:    Translation:Humans
  63. 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.
    Citations: 95     Fields:    Translation:HumansCells
  64. 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.
    Citations: 61     Fields:    Translation:Humans
  65. 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.
    Citations: 8     Fields:    Translation:Humans
  66. 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.
    Citations: 1     Fields:    Translation:Humans
  67. 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.
    Citations: 15     Fields:    Translation:Humans
  68. 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.
    Citations: 22     Fields:    Translation:HumansCells
  69. 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.
    Citations: 1     Fields:    Translation:Humans
  70. 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.
    Citations: 51     Fields:    Translation:HumansAnimalsCells
  71. 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.
    Citations: 65     Fields:    Translation:HumansCells
  72. 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.
    Citations: 16     Fields:    Translation:HumansCells
  73. 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.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  74. 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.
    Citations: 113     Fields:    Translation:Humans
  75. McLaughlin ME, Dryja TP. Ocular findings in spinocerebellar ataxia 7. Arch Ophthalmol. 2002 May; 120(5):655-9. PMID: 12003621.
    Citations: 3     Fields:    Translation:Humans
  76. 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.
    Citations: 20     Fields:    Translation:HumansCells
  77. Glazer LC, Dryja TP. Understanding the etiology of Stargardt's disease. Ophthalmol Clin North Am. 2002 Mar; 15(1):93-100, viii. PMID: 12064087.
    Citations: 19     Fields:    Translation:Humans
  78. 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.
    Citations:    Fields:    Translation:HumansCells
  79. 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.
    Citations: 63     Fields:    Translation:HumansCells
  80. 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.
    Citations: 11     Fields:    Translation:Humans
  81. 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.
    Citations: 32     Fields:    Translation:Humans
  82. 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.
    Citations: 2     Fields:    Translation:Humans
  83. 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.
    Citations: 50     Fields:    Translation:HumansCells
  84. 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.
    Citations: 23     Fields:    Translation:Humans
  85. 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.
    Citations: 107     Fields:    Translation:HumansCells
  86. 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.
    Citations: 2     Fields:    Translation:HumansCells
  87. 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.
    Citations: 9     Fields:    Translation:HumansCells
  88. 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.
    Citations: 18     Fields:    Translation:Humans
  89. 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.
    Citations: 7     Fields:    Translation:HumansCells
  90. 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.
    Citations: 52     Fields:    Translation:HumansCells
  91. 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.
    Citations: 36     Fields:    Translation:Humans
  92. 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.
    Citations: 44     Fields:    Translation:HumansCells
  93. 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.
    Citations: 39     Fields:    Translation:Humans
  94. 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.
    Citations: 107     Fields:    Translation:HumansCells
  95. 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.
    Citations: 44     Fields:    Translation:Humans
  96. 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.
    Citations: 1     Fields:    Translation:HumansCells
  97. 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.
    Citations: 38     Fields:    Translation:HumansCells
  98. 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.
    Citations: 58     Fields:    Translation:HumansCells
  99. 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.
    Citations: 69     Fields:    Translation:HumansAnimalsCells
  100. 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.
    Citations: 91     Fields:    Translation:HumansCells
  101. 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.
    Citations: 35     Fields:    Translation:Humans
  102. 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.
    Citations: 33     Fields:    Translation:HumansCells
  103. 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.
    Citations: 20     Fields:    Translation:HumansCells
  104. 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.
    Citations: 2     Fields:    Translation:HumansCells
  105. Dryja TP. The best excitement in age-related macular degeneration. Arch Ophthalmol. 1999 Jan; 117(1):108-9. PMID: 9930170.
    Citations:    Fields:    Translation:HumansCells
  106. 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.
    Citations: 71     Fields:    Translation:HumansAnimalsCells
  107. 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.
    Citations: 14     Fields:    Translation:HumansCells
  108. 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.
    Citations: 3     Fields:    Translation:Humans
  109. 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.
    Citations: 3     Fields:    Translation:Humans
  110. 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.
    Citations: 158     Fields:    Translation:Humans
  111. 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.
    Citations: 5     Fields:    Translation:Humans
  112. 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.
    Citations: 38     Fields:    Translation:HumansCells
  113. 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.
    Citations: 67     Fields:    Translation:HumansAnimalsCells
  114. 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.
    Citations: 30     Fields:    Translation:HumansCells
  115. 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.
    Citations: 18     Fields:    Translation:Humans
  116. 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.
    Citations: 40     Fields:    Translation:HumansCells
  117. 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.
    Citations: 68     Fields:    Translation:HumansCells
  118. 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.
    Citations: 21     Fields:    Translation:HumansCells
  119. 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.
    Citations: 6     Fields:    Translation:Humans
  120. 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.
    Citations: 1     Fields:    Translation:Humans
  121. 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.
    Citations: 71     Fields:    Translation:HumansCells
  122. 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.
    Citations: 105     Fields:    Translation:HumansAnimalsCells
  123. 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.
    Citations: 2     Fields:    Translation:HumansCells
  124. 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.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  125. 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.
    Citations: 57     Fields:    Translation:HumansCells
  126. 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.
    Citations: 74     Fields:    Translation:HumansCells
  127. 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.
    Citations: 1     Fields:    Translation:HumansCells
  128. 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.
    Citations: 76     Fields:    Translation:HumansCells
  129. 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.
    Citations: 7     Fields:    Translation:HumansCells
  130. 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.
    Citations: 27     Fields:    Translation:HumansCells
  131. 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.
    Citations: 25     Fields:    Translation:Humans
  132. 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.
    Citations: 43     Fields:    Translation:AnimalsCells
  133. 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.
    Citations: 103     Fields:    Translation:HumansCells
  134. 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.
    Citations: 2     Fields:    Translation:HumansCells
  135. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet. 1995; 4 Spec No:1739-43. PMID: 8541873.
    Citations: 62     Fields:    Translation:Humans
  136. 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.
    Citations: 5     Fields:    Translation:Humans
  137. 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.
    Citations: 1     Fields:    Translation:HumansCells
  138. 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.
    Citations: 214     Fields:    Translation:HumansCells
  139. 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.
    Citations: 6     Fields:    Translation:HumansCells
  140. Seminara SB, Dryja TP. Unbiased transmission of mutant alleles at the human retinoblastoma locus. Hum Genet. 1994 Jun; 93(6):629-34. PMID: 8005586.
    Citations: 5     Fields:    Translation:Humans
  141. 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.
    Citations: 22     Fields:    Translation:HumansCells
  142. 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.
    Citations: 31     Fields:    Translation:AnimalsCells
  143. 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.
    Citations: 11     Fields:    Translation:HumansCells
  144. 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.
    Citations: 28     Fields:    Translation:HumansCells
  145. 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.
    Citations: 79     Fields:    Translation:HumansCells
  146. 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.
    Citations: 164     Fields:    Translation:HumansAnimalsCells
  147. 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.
    Citations: 34     Fields:    Translation:HumansCells
  148. 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.
    Citations: 33     Fields:    Translation:HumansAnimalsCells
  149. Shokravi MT, Dryja TP. Retinitis pigmentosa and the rhodopsin gene. Int Ophthalmol Clin. 1993; 33(2):219-28. PMID: 8325735.
    Citations: 1     Fields:    Translation:HumansCells
  150. 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.
    Citations: 165     Fields:    Translation:HumansAnimalsCells
  151. 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.
    Citations: 13     Fields:    Translation:Humans
  152. 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.
    Citations: 121     Fields:    Translation:HumansCells
  153. Dryja TP. Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa. Eye (Lond). 1992; 6 ( Pt 1):1-10. PMID: 1358680.
    Citations: 17     Fields:    Translation:Humans
  154. 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.
    Citations: 96     Fields:    Translation:HumansAnimalsCells
  155. 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.
    Citations: 4     Fields:    Translation:HumansCells
  156. 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.
    Citations: 97     Fields:    Translation:HumansCells
  157. 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.
    Citations: 64     Fields:    Translation:HumansCells
  158. Dryja TP. DNA testing for retinoblastoma. Arch Ophthalmol. 1991 Sep; 109(9):1210. PMID: 1929952.
    Citations:    Fields:    Translation:Humans
  159. 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.
    Citations: 33     Fields:    Translation:HumansAnimalsCells
  160. 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.
    Citations: 35     Fields:    Translation:HumansCells
  161. 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.
    Citations: 107     Fields:    Translation:HumansCells
  162. 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.
    Citations: 3     Fields:    Translation:HumansCells
  163. 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.
    Citations: 64     Fields:    Translation:HumansCells
  164. 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.
    Citations: 157     Fields:    Translation:HumansCells
  165. Dryja TP. Human genetics. Deficiencies in sight with the candidate gene approach. Nature. 1990 Oct 18; 347(6294):614. PMID: