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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Retinal Degeneration and RPGR[original query]
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
PloS one 2011 6 (8): e23021.
Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Investigative ophthalmology & visual science 2012 Nov .
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A
Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.
Mammalian genome : official journal of the International Mammalian Genome Society 2016 Mar .
Forman Oliver P, Hitti Rebekkah J, Boursnell Mike, Miyadera Keiko, Sargan David, Mellersh Cathr
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
International journal of molecular sciences 2019 3 20 (6): .
Kurata Kentaro, Hosono Katsuhiro, Hayashi Takaaki, Mizobuchi Kei, Katagiri Satoshi, Miyamichi Daisuke, Nishina Sachiko, Sato Miho, Azuma Noriyuki, Nakano Tadashi, Hotta Yoshihi
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 2 22 (6): 1079-1087.
Zampaglione Erin, Kinde Benyam, Place Emily M, Navarro-Gomez Daniel, Maher Matthew, Jamshidi Farzad, Nassiri Sherwin, Mazzone J Alex, Finn Caitlin, Schlegel Dana, Comander Jason, Pierce Eric A, Bujakowska Kinga
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy.
International journal of molecular sciences 2023 2 24 (4): .
Hadalin Vlasta, Buscarino Maša, Sajovic Jana, Megli? Andrej, Jarc-Vidmar Martina, Hawlina Marko, Volk Marija, Fakin A
Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration.
Eye (London, England) 2024 8 .
Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch
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