These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
265 related articles for article (PubMed ID: 23805042)
1. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family. Pach J; Kohl S; Gekeler F; Zobor D Mol Vis; 2013; 19():1350-5. PubMed ID: 23805042 [TBL] [Abstract][Full Text] [Related]
2. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. Zobor D; Balousha G; Baumann B; Wissinger B Mol Vis; 2014; 20():178-82. PubMed ID: 24520187 [TBL] [Abstract][Full Text] [Related]
3. Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans. Nevet MJ; Shalev SA; Zlotogora J; Mazzawi N; Ben-Yosef T J Med Genet; 2010 Aug; 47(8):533-7. PubMed ID: 20507925 [TBL] [Abstract][Full Text] [Related]
5. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. Zangerl B; Goldstein O; Philp AR; Lindauer SJ; Pearce-Kelling SE; Mullins RF; Graphodatsky AS; Ripoll D; Felix JS; Stone EM; Acland GM; Aguirre GD Genomics; 2006 Nov; 88(5):551-63. PubMed ID: 16938425 [TBL] [Abstract][Full Text] [Related]
6. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279 [TBL] [Abstract][Full Text] [Related]
7. The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway. Remez L; Zobor D; Kohl S; Ben-Yosef T Exp Eye Res; 2014 Aug; 125():217-25. PubMed ID: 24992209 [TBL] [Abstract][Full Text] [Related]
8. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394 [TBL] [Abstract][Full Text] [Related]
9. The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. Michaelides M; Gaillard MC; Escher P; Tiab L; Bedell M; Borruat FX; Barthelmes D; Carmona R; Zhang K; White E; McClements M; Robson AG; Holder GE; Bradshaw K; Hunt DM; Webster AR; Moore AT; Schorderet DF; Munier FL Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4771-80. PubMed ID: 20393116 [TBL] [Abstract][Full Text] [Related]
10. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059 [TBL] [Abstract][Full Text] [Related]
11. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study. Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036 [TBL] [Abstract][Full Text] [Related]
12. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. Dvir L; Srour G; Abu-Ras R; Miller B; Shalev SA; Ben-Yosef T Am J Hum Genet; 2010 Aug; 87(2):258-64. PubMed ID: 20655036 [TBL] [Abstract][Full Text] [Related]
13. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. den Hollander AI; McGee TL; Ziviello C; Banfi S; Dryja TP; Gonzalez-Fernandez F; Ghosh D; Berson EL Invest Ophthalmol Vis Sci; 2009 Apr; 50(4):1864-72. PubMed ID: 19074801 [TBL] [Abstract][Full Text] [Related]
14. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene. Kjellström U; Veiga-Crespo P; Andréasson S; Ekström P Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6048-6057. PubMed ID: 27820873 [TBL] [Abstract][Full Text] [Related]
15. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. Zobor D; Zobor G; Hipp S; Baumann B; Weisschuh N; Biskup S; Sliesoraityte I; Zrenner E; Kohl S Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3041-3052. PubMed ID: 30025130 [TBL] [Abstract][Full Text] [Related]
16. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family. Sheng X; Li Z; Zhang X; Wang J; Ren H; Sun Y; Meng R; Rong W; Zhuang W Mol Vis; 2010 Aug; 16():1620-8. PubMed ID: 20806050 [TBL] [Abstract][Full Text] [Related]
17. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa. Li L; Nakaya N; Chavali VR; Ma Z; Jiao X; Sieving PA; Riazuddin S; Tomarev SI; Ayyagari R; Riazuddin SA; Hejtmancik JF Am J Hum Genet; 2010 Sep; 87(3):400-9. PubMed ID: 20797688 [TBL] [Abstract][Full Text] [Related]
18. Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. Gan L; Yang C; Shu Y; Liu F; Sun R; Deng B; Xu J; Huang G; Qu C; Gong B; Li J Clin Chim Acta; 2020 Aug; 507():17-22. PubMed ID: 32277948 [TBL] [Abstract][Full Text] [Related]
19. Expanding the retinal phenotype of Riera M; Abad-Morales V; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcostegui B; Pomares E Br J Ophthalmol; 2020 Feb; 104(2):173-181. PubMed ID: 31079053 [TBL] [Abstract][Full Text] [Related]
20. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Hipp S; Zobor G; Glöckle N; Mohr J; Kohl S; Zrenner E; Weisschuh N; Zobor D Acta Ophthalmol; 2015 Jun; 93(4):e281-6. PubMed ID: 25429852 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]