FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Thaddeus Dryja

Research Profile

Disorders

Concepts & Ideas

Physiology

Procedures

Chemicals & Drugs

Genes & Molecular Sequences

Phenomena

Polymorphism, Single-Stranded Conformational

Co-author Network

Publications

TOP 3
Terri L McGee; Babak Jian Seyedahmadi; Meredith O Sweeney; Thaddeus P Dryja; Eliot L Berson
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
Manal Hajali; Gerald A Fishman; Thaddeus P Dryja; Meredith O Sweeney; Martin Lindeman
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
Anneke I den Hollander; Terri L McGee; Carmela Ziviello; Sandro Banfi; Thaddeus P Dryja; Federico Gonzalez-Fernandez; Debashis Ghosh; Eliot L Berson
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Thaddeus Dryja (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2010: Terri L McGee; Babak Jian Seyedahmadi; Meredith O Sweeney; Thaddeus P Dryja; Eliot L Berson
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
Journal of medical genetics 2010;47(7):499-506.
2009: Manal Hajali; Gerald A Fishman; Thaddeus P Dryja; Meredith O Sweeney; Martin Lindeman
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
Documenta ophthalmologica. Advances in ophthalmology 2009;118(3):233-8.
2009: Anneke I den Hollander; Terri L McGee; Carmela Ziviello; Sandro Banfi; Thaddeus P Dryja; Federico Gonzalez-Fernandez; Debashis Ghosh; Eliot L Berson
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science 2009;50(4):1864-72.
2009: Dyonne T Hartong; Terri L McGee; Michael A Sandberg; Eliot L Berson; Folkert W Asselbergs; Pim van der Harst; Immaculata DeVivo; Thaddeus P Dryja
Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.
Molecular vision 2009;15():592-7.
2008: Michael A Sandberg; Bernard Rosner; Carol Weigel-DiFranco; Terri L McGee; Thaddeus P Dryja; Eliot L Berson
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Investigative ophthalmology & visual science 2008;49(12):5532-9.
2008: Dyonne T Hartong; Mayura Dange; Terri L McGee; Eliot L Berson; Thaddeus P Dryja; Roberta F Colman
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.
Nature genetics 2008;40(10):1230-4.
2008: Margaret DeAngelis; Fei Ji; Scott Adams; Margaux A Morrison; Amanda J Harring; Meredith O Sweeney; Antonio Capone; Joan W Miller; Thaddeus P Dryja; Jurg Ott; Ivana K Kim
Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration.
Ophthalmology 2008;115(7):1209-1215.e7.
2008: Ivana K Kim; Fei Ji; Margaux A Morrison; Scott Adams; Qingrun Zhang; Anne Marie Lane; Antonio Capone; Thaddeus P Dryja; Jurg Ott; Joan W Miller; Margaret DeAngelis
Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration.
Molecular vision 2008;14():1487-95.
2007: Sureka Thiagalingam; Terri L McGee; Richard G Weleber; Michael A Sandberg; Karmen M Trzupek; Eliot L Berson; Thaddeus P Dryja
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Ophthalmic genetics 2007;28(3):135-42.
2007: Alessandro Iannaccone; Salvatore A Tedesco; Kevin T Gallaher; Hiroyuki Yamamoto; Steve Charles; Thaddeus P Dryja
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
Documenta ophthalmologica. Advances in ophthalmology 2007;115(2):111-6.
2007: Michael A Sandberg; Bernard Rosner; Carol Weigel-DiFranco; Thaddeus P Dryja; Eliot L Berson
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Investigative ophthalmology & visual science 2007;48(3):1298-304.
2007: Meredith O Sweeney; Terri L McGee; Eliot L Berson; Thaddeus P Dryja
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.
Molecular vision 2007;13():588-93.
2007: Margaret DeAngelis; Fei Ji; Ivana K Kim; Scott Adams; Antonio Capone; Jurg Ott; Joan W Miller; Thaddeus P Dryja
Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration.
Archives of ophthalmology 2007;125(1):49-54.
2007: Pitipol Choopong; Petur G Nielsen; Elliot M Perlman; John J Huang; Thaddeus P Dryja; C Stephen Foster
Solitary myofibroma of the sclera.
Cornea 2007;26(1):114-6.
2006: Dyonne T Hartong; Eliot L Berson; Thaddeus P Dryja
Retinitis pigmentosa.
Lancet 2006;368(9549):1795-809.
2006: Thekla Papadaki; Chrysanthi Kafkala; Ioannis P Zacharopoulos; Jian Seyedahmadi B; Thaddeus P Dryja; C Stephen Foster
Conjunctival non-caseating granulomas in a human immunodeficiency virus (HIV) positive patient attributed to sarcoidosis.
Ocular immunology and inflammation 2006;14(5):309-11.
2006: Carlo Rivolta; Terri L McGee; Thomas Rio Frio; Roderick V Jensen; Eliot L Berson; Thaddeus P Dryja
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.
Human mutation 2006;27(7):644-53.
2006: David S Walton; Shizuo Mukai; Eric F Grabowski; John E Munzenrider; Thaddeus P Dryja
Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye.
The New England journal of medicine 2006;354(7):741-8.
2006: Ivana K Kim; Thaddeus P Dryja; Simmons Lessell; Evangelos S Gragoudas
Melanocytoma of the optic nerve associated with sound-induced phosphenes.
Archives of ophthalmology 2006;124(2):273-7.
2006: Carlo Rivolta; Eliot L Berson; Thaddeus P Dryja
Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.
Molecular vision 2006;12():1511-5.
2006: Geetha H Mylvaganam; Terri L McGee; Eliot L Berson; Thaddeus P Dryja
A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.
Molecular vision 2006;12():1496-8.
2005: Thaddeus P Dryja
Importance of genotyping in clinical trials of inherited and orphan retinal diseases.
Retina (Philadelphia, Pa.) 2005;25(8 Suppl):S74.
2005: Thaddeus P Dryja
Photoreceptor cell rescue in inherited and orphan retinal diseases: disease-specific requirements.
Retina (Philadelphia, Pa.) 2005;25(8 Suppl):S13-S14.
2005: Patrik Schatz; Vesna Ponjavic; Sten Andréasson; Terri L McGee; Thaddeus P Dryja; Magnus Abrahamson
Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
Ophthalmic genetics 2005;26(3):119-24.
2005: Yael Ben-Arie-Weintrob; Eliot L Berson; Thaddeus P Dryja
Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
Ophthalmic genetics 2005;26(2):91-100.
2005: Yuko Wada; Michael A Sandberg; Terri L McGee; Melissa A Stillberger; Eliot L Berson; Thaddeus P Dryja
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
Investigative ophthalmology & visual science 2005;46(5):1735-41.
2005: Thaddeus P Dryja; Terri L McGee; Eliot L Berson; Gerald A Fishman; Michael A Sandberg; Kenneth R Alexander; Deborah J Derlacki; Aruna S Rajagopalan
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(13):4884-9.
2005: Koji M Nishiguchi; Michael A Sandberg; Nasim Gorji; Eliot L Berson; Thaddeus P Dryja
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Human mutation 2005;25(3):248-58.
2004: Koji M Nishiguchi; James S Friedman; Michael A Sandberg; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(51):17819-24.
2004: Koji M Nishiguchi; Izabela Sokal; Lili Yang; Nirmalya Roychowdhury; Krzysztof Palczewski; Eliot L Berson; Thaddeus P Dryja; Wolfgang Baehr
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
Investigative ophthalmology & visual science 2004;45(11):3863-70.
2004: Babak Jian Seyedahmadi; Carlo Rivolta; Julia A Keene; Eliot L Berson; Thaddeus P Dryja
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
Experimental eye research 2004;79(2):167-73.
2004: Cynthia S Chiu; Thaddeus P Dryja; Simmons Lessell
A "negative" temporal artery biopsy, positive for arteritis.
Archives of ophthalmology 2004;122(7):1074-5.
2004: Margaret DeAngelis; Anne Marie Lane; Chirag P Shah; Jurg Ott; Thaddeus P Dryja; Joan W Miller
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration.
Archives of ophthalmology 2004;122(4):575-80.
2004: John T H Mandeville; Jong Lyel Roh; John J Woog; Russell S Gonnering; Peter S Levin; Robert A Mazzoli; Darryl J Ainbinder; J Justin Older; Alexandre P Moulin; Ralf Kiel; Yoon-Duck Kim; Thaddeus P Dryja
Cutaneous benign mixed tumor (chondroid syringoma) of the eyelid: clinical presentation and management.
Ophthalmic plastic and reconstructive surgery 2004;20(2):110-6.
2004: Koji M Nishiguchi; Eliot L Berson; Thaddeus P Dryja
Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.
Molecular vision 2004;10():62-4.
2004: Gerald A Fishman; Mary Flynn Roberts; Deborah J Derlacki; Jonna L Grimsby; Hiroyuki Yamamoto; Dror Sharon; Koji M Nishiguchi; Thaddeus P Dryja
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.
Archives of ophthalmology 2004;122(1):70-5.
2004: Koji M Nishiguchi; Michael A Sandberg; Aart Kooijman; Kirill Martemyanov; Jan Willem R Pott; Stephanie A Hagstrom; Vadim Y Arshavsky; Eliot L Berson; Thaddeus P Dryja
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
Nature 2004;427(6969):75-8.
2003: Dror Sharon; Michael A Sandberg; Vivian W Rabe; Melissa Stillberger; Thaddeus P Dryja; Eliot L Berson
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
American journal of human genetics 2003;73(5):1131-46.
2003: Dror Sharon; Michael A Sandberg; Rafael C Caruso; Eliot L Berson; Thaddeus P Dryja
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
Archives of ophthalmology 2003;121(9):1316-23.
2003: Eric J Dudenhoefer; Mahnaz Nouri; Ilene K Gipson; K H Baratz; Ann Tisdale; Thaddeus P Dryja; J C Abad; Claes H Dohlman
Histopathology of explanted collar button keratoprostheses: a clinicopathologic correlation.
Cornea 2003;22(5):424-8.
2003: Carlo Rivolta; Radha Ayyagari; Paul Sieving; Eliot L Berson; Thaddeus P Dryja
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
Molecular vision 2003;9():49-51.
2003: Bradley S Foster; Jessica P Fernandez-Suntay; Thaddeus P Dryja; Frederick A Jakobiec; Donald J D'Amico
Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma.
Archives of ophthalmology 2003;121(2):273-6.
2002: Xuejiao Wang; Siqun Xu; Carlo Rivolta; Lili Y Li; Guang-Hua Peng; Prabodh K Swain; Ching-Hwa Sung; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja; Shiming Chen
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function.
The Journal of biological chemistry 2002;277(45):43288-300.
2002: Carlo Rivolta; Eliot L Berson; Thaddeus P Dryja
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.
Archives of ophthalmology 2002;120(11):1566-71.
2002: Jessica P Fernandez-Suntay; Evangelos S Gragoudas; Judith A Ferry; Mark E Anderson; Mark P Dacey; Thaddeus P Dryja
High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome.
Archives of ophthalmology 2002;120(10):1383-5.
2002: Eliot L Berson; Bernard Rosner; Carol Weigel-DiFranco; Thaddeus P Dryja; Michael A Sandberg
Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations.
Investigative ophthalmology & visual science 2002;43(9):3027-36.
2002: King To; Michael Adamian; Thaddeus P Dryja; Eliot L Berson
Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.
American journal of ophthalmology 2002;134(2):290-3.
2002: Dror Sharon; Hiroyuki Yamamoto; Terri L McGee; Vivian Rabe; Robert T Szerencsei; Robert J Winkfein; Clemens F M Prinsen; Claire S Barnes; sten andreasson; Gerald A Fishman; Paul P M Schnetkamp; Eliot L Berson; Thaddeus P Dryja
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.
Investigative ophthalmology & visual science 2002;43(6):1971-9.
2002: Carlo Rivolta; Dror Sharon; Margaret DeAngelis; Thaddeus P Dryja
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
Human molecular genetics 2002;11(10):1219-27.
2002: Margaret E McLaughlin; Thaddeus P Dryja
Ocular findings in spinocerebellar ataxia 7.
Archives of ophthalmology 2002;120(5):655-9.
2002: Liane Clamen Glazer; Thaddeus P Dryja
Understanding the etiology of Stargardt's disease.
Ophthalmology clinics of North America 2002;15(1):93-100, viii.
2002: Margaret DeAngelis; Jonna L Grimsby; Michael A Sandberg; Eliot L Berson; Thaddeus P Dryja
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa.
Archives of ophthalmology 2002;120(3):369-75.
2002: Donald J D'Amico; Thaddeus P Dryja
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.
The New England journal of medicine 2002;346(3):189-95.
2002: Dror Sharon; Seth Blackshaw; Constance L Cepko; Thaddeus P Dryja
Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).
Proceedings of the National Academy of Sciences of the United States of America 2002;99(1):315-20.
2001: Carlo Rivolta; N E Peck; A B Fulton; Gerald A Fishman; Eliot L Berson; Thaddeus P Dryja
Novel frameshift mutations in CRX associated with Leber congenital amaurosis.
Human mutation 2001;18(6):550-1.
2001: Carlo Rivolta; Eliot L Berson; Thaddeus P Dryja
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.
Human mutation 2001;18(6):488-98.
2001: C E Briggs; D Rucinski; Philip J Rosenfeld; Tatsuo Hirose; Eliot L Berson; Thaddeus P Dryja
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Investigative ophthalmology & visual science 2001;42(10):2229-36.
2001: Eliot L Berson; Jonna L Grimsby; S M Adams; Terri L McGee; E Sweklo; Eric A Pierce; Michael A Sandberg; Thaddeus P Dryja
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
Investigative ophthalmology & visual science 2001;42(10):2217-24.
2001: Thaddeus P Dryja; S M Adams; Jonna L Grimsby; Terri L McGee; Dong-Hyun Hong; T Li; Sten Andréasson; Eliot L Berson
Null RPGRIP1 alleles in patients with Leber congenital amaurosis.
American journal of human genetics 2001;68(5):1295-8.
2001: Margaret DeAngelis; Terri L McGee; Bronya J B Keats; R Slim; Eliot L Berson; Thaddeus P Dryja
Two families from New England with usher syndrome type IC with distinct haplotypes.
American journal of ophthalmology 2001;131(3):355-8.
2001: F Chahud; R H Young; J F Remulla; JJ Khadem; Thaddeus P Dryja
Bilateral diffuse uveal melanocytic proliferation associated with extraocular cancers: review of a process particularly associated with gynecologic cancers.
The American journal of surgical pathology 2001;25(2):212-8.
2001: Natalie A Afshari; J E Mullally; Mehran A Afshari; R F Steinert; Anthony P Adamis; Dimitri T Azar; Jonathan H Talamo; Claes H Dohlman; Thaddeus P Dryja
Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.
Archives of ophthalmology 2001;119(1):16-22.
2000: King To; Michael Adamian; Thaddeus P Dryja; Eliot L Berson
Retinal histopathology of an autopsy eye with advanced retinitis pigmentosa in a family with rhodopsin Glu181Lys.
American journal of ophthalmology 2000;130(6):790-2.
2000: Thaddeus P Dryja
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
American journal of ophthalmology 2000;130(5):547-63.
2000: Thaddeus P Dryja; J A McEvoy; Terri L McGee; Eliot L Berson
Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2000;41(10):3124-7.
2000: Dror Sharon; G A Bruns; Terri L McGee; Michael A Sandberg; Eliot L Berson; Thaddeus P Dryja
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
Investigative ophthalmology & visual science 2000;41(9):2712-21.
2000: A K Bharadwaj; J P Kasztejna; Syed O Huq; Eliot L Berson; Thaddeus P Dryja
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
Experimental eye research 2000;71(2):173-81.
2000: Carlo Rivolta; E A Sweklo; Eliot L Berson; Thaddeus P Dryja
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
American journal of human genetics 2000;66(6):1975-8.
1999: H Morimura; F Saindelle-Ribeaudeau; Eliot L Berson; Thaddeus P Dryja
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
Nature genetics 1999;23(4):393-4.
1999: Esen Karamursel Akpek; I Ahmed; F H Hochberg; M Soheilian; Thaddeus P Dryja; Frederick A Jakobiec; C Stephen Foster
Intraocular-central nervous system lymphoma: clinical features, diagnosis, and outcomes.
Ophthalmology 1999;106(9):1805-10.
1999: Thaddeus P Dryja; J McEvoy; Terri L McGee; Eliot L Berson
No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.
American journal of human genetics 1999;65(3):926-8.
1999: Thaddeus P Dryja; D E Rucinski; S H Chen; Eliot L Berson
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
Investigative ophthalmology & visual science 1999;40(8):1859-65.
1999: Eric A Pierce; T Quinn; T Meehan; Terri L McGee; Eliot L Berson; Thaddeus P Dryja
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.
Nature genetics 1999;22(3):248-54.
1999: H Yamamoto; A Simon; U Eriksson; E Harris; Eliot L Berson; Thaddeus P Dryja
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Nature genetics 1999;22(2):188-91.
1999: H Morimura; Eliot L Berson; Thaddeus P Dryja
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
Investigative ophthalmology & visual science 1999;40(5):1000-4.
1999: Stephanie A Hagstrom; Thaddeus P Dryja
Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(6):2952-7.
1999: W Tulvatana; Michael Adamian; Eliot L Berson; Thaddeus P Dryja
Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance.
Archives of ophthalmology 1999;117(3):399-402.
1999: T Fujita; N Ohtani-Fujita; Toshiyuki Sakai; JM Rapaport; Thaddeus P Dryja; M V Kato; K Ishizaki; M S Sasaki; Y Hotta; K Maeda; S Kinoshita; Y Ohnishi; K Minoda
Low frequency of oncogenic mutations in the core promoter region of the RB1 gene.
Human mutation 1999;13(5):410-1.
1999: Thaddeus P Dryja
The best excitement in age-related macular degeneration.
Archives of ophthalmology 1999;117(1):108-9.
1998: Tiansen Li; Michael A Sandberg; Basil Pawlyk; Bernard Rosner; KC Hayes; Thaddeus P Dryja; Eliot L Berson
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(20):11933-8.
1998: Michael A Sandberg; Basil Pawlyk; J Dan; B Arnaud; Thaddeus P Dryja; Eliot L Berson
Rod and cone function in the Nougaret form of stationary night blindness.
Archives of ophthalmology 1998;116(7):867-72.
1998: H Morimura; Gerald A Fishman; S A Grover; A B Fulton; Eliot L Berson; Thaddeus P Dryja
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(6):3088-93.
1998: Kimberly C Sippel; J D DeStefano; Eliot L Berson; Thaddeus P Dryja
Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.
Investigative ophthalmology & visual science 1998;39(3):665-70.
1998: Kimberly C Sippel; Rebecca E. Fraioli; Gary D Smith; M E Schalkoff; Joanne Sutherland; B L Gallie; Thaddeus P Dryja
Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.
American journal of human genetics 1998;62(3):610-9.
1998: Stephanie A Hagstrom; M A North; P L Nishina; Eliot L Berson; Thaddeus P Dryja
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
Nature genetics 1998;18(2):174-6.
1997: Terri L McGee; M Devoto; J Ott; Eliot L Berson; Thaddeus P Dryja
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.
American journal of human genetics 1997;61(5):1059-66.
1997: Thaddeus P Dryja
Gene-based approach to human gene-phenotype correlations.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(22):12117-21.
1997: N Ohtani-Fujita; Thaddeus P Dryja; JM Rapaport; T Fujita; S Matsumura; K Ozasa; Y Watanabe; K Hayashi; K Maeda; S Kinoshita; T Matsumura; Y Ohnishi; Y Hotta; R Takahashi; M V Kato; K Ishizaki; M S Sasaki; B Horsthemke; K Minoda; Toshiyuki Sakai
Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma.
Cancer genetics and cytogenetics 1997;98(1):43-9.
1997: Thaddeus P Dryja; L B Hahn; K Kajiwara; Eliot L Berson
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
Investigative ophthalmology & visual science 1997;38(10):1972-82.
1997: Thaddeus P Dryja; J F Morrow; JM Rapaport
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.
Human genetics 1997;100(3-4):446-9.
1997: S Yamamoto; S C Khani; Eliot L Berson; Thaddeus P Dryja
Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa.
Experimental eye research 1997;65(2):249-53.
1997: A H Parminder; A Murakami; George Inana; Eliot L Berson; Thaddeus P Dryja
Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease.
Investigative ophthalmology & visual science 1997;38(3):704-9.
1997: S Yamamoto; Kimberly C Sippel; Eliot L Berson; Thaddeus P Dryja
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
Nature genetics 1997;15(2):175-8.
1996: Tiansen Li; W K Snyder; jane elizabeth olsson; Thaddeus P Dryja
Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(24):14176-81.
1996: E W Chynn; David S Walton; L B Hahn; Thaddeus P Dryja
Norrie disease. Diagnosis of a simplex case by DNA analysis.
Archives of ophthalmology 1996;114(9):1136-8.
1996: S C Khani; M Abitbol; S Yamamoto; I Maravic-Magovcevic; Thaddeus P Dryja
Characterization and chromosomal localization of the gene for human rhodopsin kinase.
Genomics 1996;35(3):571-6.
1996: Thaddeus P Dryja; L B Hahn; T Reboul; B Arnaud
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
Nature genetics 1996;13(3):358-60.
1995: S H Huang; Steven J Pittler; X Huang; L Oliveira; Eliot L Berson; Thaddeus P Dryja
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
Nature genetics 1995;11(4):468-71.
1995: Thaddeus P Dryja; J T Finn; Y W Peng; T L McGee; Eliot L Berson; King-Wai Yau
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(22):10177-81.
1995: Philip J Rosenfeld; L B Hahn; Michael A Sandberg; Thaddeus P Dryja; Eliot L Berson
Low incidence of retinitis pigmentosa among heterozygous carriers of a specific rhodopsin splice site mutation.
Investigative ophthalmology & visual science 1995;36(11):2186-92.
1995: Michael A Sandberg; C Weigel-DiFranco; Thaddeus P Dryja; Eliot L Berson
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 1995;36(9):1934-42.
1995: Thaddeus P Dryja; Eliot L Berson
Retinitis pigmentosa and allied diseases. Implications of genetic heterogeneity.
Investigative ophthalmology & visual science 1995;36(7):1197-200.
1995: Tiansen Li; W K Franson; J W Gordon; Eliot L Berson; Thaddeus P Dryja
Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(8):3551-5.
1995: M E McLaughlin; T L Ehrhart; Eliot L Berson; Thaddeus P Dryja
Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(8):3249-53.
1995: Thaddeus P Dryja; Tiansen Li
Molecular genetics of retinitis pigmentosa.
Human molecular genetics 1995;4 Spec No():1739-43.
1994: S K Kim; Jonathan L Haines; Eliot L Berson; Thaddeus P Dryja
Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance.
Genomics 1994;22(3):659-660.
1994: K Kajiwara; Eliot L Berson; Thaddeus P Dryja
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
Science (New York, N.Y.) 1994;264(5165):1604-8.
1994: N Ohtani-Fujita; T Fujita; R Takahashi; Paul D Robbins; Thaddeus P Dryja; Toshiyuki Sakai
A silencer element in the retinoblastoma tumor-suppressor gene.
Oncogene 1994;9(6):1703-11.
1994: Stephanie B Seminara; Thaddeus P Dryja
Unbiased transmission of mutant alleles at the human retinoblastoma locus.
Human genetics 1994;93(6):629-34.
1994: R Vaithinathan; Eliot L Berson; Thaddeus P Dryja
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
Genomics 1994;21(2):461-3.
1994: Tiansen Li; Michael Adamian; D J Roof; Eliot L Berson; Thaddeus P Dryja; Blake J Roessler; B L Davidson
In vivo transfer of a reporter gene to the retina mediated by an adenoviral vector.
Investigative ophthalmology & visual science 1994;35(5):2543-9.
1994: L B Hahn; Eliot L Berson; Thaddeus P Dryja
Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa.
Investigative ophthalmology & visual science 1994;35(3):1077-82.
1993: Junya Toguchida; T L McGee; J C Paterson; J R Eagle; S Tucker; D W Yandell; Thaddeus P Dryja
Complete genomic sequence of the human retinoblastoma susceptibility gene.
Genomics 1993;17(3):535-43.
1993: Thaddeus P Dryja; Eliot L Berson; V R Rao; Daniel D Oprian
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
Nature genetics 1993;4(3):280-3.
1993: M E McLaughlin; Michael A Sandberg; Eliot L Berson; Thaddeus P Dryja
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
Nature genetics 1993;4(2):130-4.
1993: Thaddeus P Dryja; J Rapaport; T L McGee; T Michael Nork; T L Schwartz
Molecular etiology of low-penetrance retinoblastoma in two pedigrees.
American journal of human genetics 1993;52(6):1122-8.
1993: K Kajiwara; Michael A Sandberg; Eliot L Berson; Thaddeus P Dryja
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Nature genetics 1993;3(3):208-12.
1992: jane elizabeth olsson; J W Gordon; Basil Pawlyk; D Roof; A Hayes; R S Molday; Shizuo Mukai; G S Cowley; Eliot L Berson; Thaddeus P Dryja
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
Neuron 1992;9(5):815-30.
1992: Philip J Rosenfeld; G S Cowley; T L McGee; Michael A Sandberg; Eliot L Berson; Thaddeus P Dryja
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa.
Nature genetics 1992;1(3):209-13.
1992: Thaddeus P Dryja
Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.
Eye (London, England) 1992;6 ( Pt 1)():1-10.
1991: K Kajiwara; L B Hahn; Shizuo Mukai; Gabriel H Travis; Eliot L Berson; Thaddeus P Dryja
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
Nature 1991;354(6353):480-3.
1991: P R Cotran; G A Bruns; Eliot L Berson; Thaddeus P Dryja
Genetic analysis of patients with retinitis pigmentosa using a cloned cDNA probe for the human gamma subunit of cyclic GMP phosphodiesterase.
Experimental eye research 1991;53(5):557-64.
1991: Thaddeus P Dryja; L B Hahn; G S Cowley; T L McGee; Eliot L Berson
Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(20):9370-4.
1991: T Sakai; N Ohtani; T L McGee; P D Robbins; Thaddeus P Dryja
Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene.
Nature 1991;353(6339):83-6.
1991: Gabriel H Travis; Lori B Christerson; Patria E Danielson; I Klisak; R S Sparkes; L B Hahn; Thaddeus P Dryja; J Gregor Sutcliffe
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
Genomics 1991;10(3):733-9.
1991: Eliot L Berson; B Rosner; Michael A Sandberg; C Weigel-DiFranco; Thaddeus P Dryja
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.
American journal of ophthalmology 1991;111(5):614-23.
1991: T Sakai; Junya Toguchida; N Ohtani; D W Yandell; J M Rapaport; Thaddeus P Dryja
Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.
American journal of human genetics 1991;48(5):880-8.
1991: Eliot L Berson; B Rosner; Michael A Sandberg; Thaddeus P Dryja
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).
Archives of ophthalmology 1991;109(1):92-101.
1991: Eliot L Berson; Michael A Sandberg; Thaddeus P Dryja
Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.
Transactions of the American Ophthalmological Society 1991;89():117-28; discussion 128-30.
1990: Thaddeus P Dryja; T L McGee; L B Hahn; G S Cowley; jane elizabeth olsson; E Reichel; Michael A Sandberg; Eliot L Berson
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
The New England journal of medicine 1990;323(19):1302-7.
1990: G L Vaughn; Junya Toguchida; T L McGee; Thaddeus P Dryja
PCR detection of the Tth 111 I RFLP at the RB locus.
Nucleic acids research 1990;18(16):4965.
1990: P J Ringens; M Fang; T Shinohara; C D Bridges; C L Lerea; Eliot L Berson; Thaddeus P Dryja
Analysis of genes coding for S-antigen, interstitial retinol binding protein, and the alpha-subunit of cone transducin in patients with retinitis pigmentosa.
Investigative ophthalmology & visual science 1990;31(8):1421-6.
1990: P R Cotran; P J Ringens; J W Crabb; Eliot L Berson; Thaddeus P Dryja
Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNA.
Experimental eye research 1990;51(1):15-9.
1990: Thaddeus P Dryja; T L McGee; E Reichel; L B Hahn; G S Cowley; D W Yandell; Michael A Sandberg; Eliot L Berson
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
Nature 1990;343(6256):364-6.
1990: T L McGee; G S Cowley; D W Yandell; Thaddeus P Dryja
Detection of the XbaI RFLP within the retinoblastoma locus by PCR.
Nucleic acids research 1990;18(1):207.
1989: D W Yandell; T A Campbell; S H Dayton; R Petersen; D Walton; J B Little; Allyn McConkie-Rosell; edward buckley; Thaddeus P Dryja
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
The New England journal of medicine 1989;321(25):1689-95.
1989: D W Yandell; Thaddeus P Dryja
Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.
American journal of human genetics 1989;45(4):547-55.
1989: T L McGee; D W Yandell; Thaddeus P Dryja
Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.
Gene 1989;80(1):119-28.
1989: M A Howard; Thaddeus P Dryja; David S Walton; D M Albert
Identification and significance of multinucleate tumor cells in retinoblastoma.
Archives of ophthalmology 1989;107(7):1025-30.
1989: S Canning; Thaddeus P Dryja
Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(13):5044-8.
1989: Thaddeus P Dryja; Shizuo Mukai; R Petersen; J M Rapaport; D Walton; D W Yandell
Parental origin of mutations of the retinoblastoma gene.
Nature 1989;339(6225):556-8.
1988: J L Wiggs; Thaddeus P Dryja
Predicting the risk of hereditary retinoblastoma.
American journal of ophthalmology 1988;106(3):346-51.
1986: Thaddeus P Dryja; S Friend; Robert A. Weinberg
Genetic sequences that predispose to retinoblastoma and osteosarcoma.
Symposium on Fundamental Cancer Research 1986;39():115-9.
1986: Thaddeus P Dryja; J M Rapaport; J Epstein; Allen M Goorin; R Weichselbaum; A Koufos; W K Cavenee
Chromosome 13 homozygosity in osteosarcoma without retinoblastoma.
American journal of human genetics 1986;38(1):59-66.
1984: Thaddeus P Dryja; W Cavenee; Raymond White; J M Rapaport; R Petersen; D M Albert; G A Bruns
Homozygosity of chromosome 13 in retinoblastoma.
The New England journal of medicine 1984;310(9):550-3.
1984: Thaddeus P Dryja; J M Rapaport; R Weichselbaum; G A Bruns
Chromosome 13 restriction fragment length polymorphisms.
Human genetics 1984;65(4):320-4.
1983: Thaddeus P Dryja; G A Bruns; B Gallie; R Petersen; W Green; J M Rapaport; D M Albert; P S Gerald
Low incidence of deletion of the esterase D locus in retinoblastoma patients.
Human genetics 1983;64(2):151-5.
1983: Thaddeus P Dryja; G A Bruns; Stuart H Orkin; D M Albert; P S Gerald
Isolation of DNA fragments from chromosome 13.
Retina (Philadelphia, Pa.) 1983;3(2):121-5.