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7. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Daich Varela M; Ullah E; Yousaf S; Brooks BP; Hufnagel RB; Huryn LA Invest Ophthalmol Vis Sci; 2020 Oct; 61(12):1. PubMed ID: 33001157 [TBL] [Abstract][Full Text] [Related]
8. Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. Cheguru P; Majumder A; Artemyev NO Mol Cell Neurosci; 2015 Jan; 64():1-8. PubMed ID: 25461672 [TBL] [Abstract][Full Text] [Related]
9. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Kohl S; Baumann B; Broghammer M; Jägle H; Sieving P; Kellner U; Spegal R; Anastasi M; Zrenner E; Sharpe LT; Wissinger B Hum Mol Genet; 2000 Sep; 9(14):2107-16. PubMed ID: 10958649 [TBL] [Abstract][Full Text] [Related]
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12. Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing. Sun W; Li S; Xiao X; Wang P; Zhang Q Mol Vis; 2020; 26():588-602. PubMed ID: 32913385 [TBL] [Abstract][Full Text] [Related]
13. Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). Katagiri S; Hayashi T; Yoshitake K; Sergeev Y; Akahori M; Furuno M; Nishino J; Ikeo K; Tsunoda K; Tsuneoka H; Iwata T Ophthalmic Genet; 2015 Jun; 36(2):137-44. PubMed ID: 25605338 [TBL] [Abstract][Full Text] [Related]
14. Deep Phenotyping of PDE6C-Associated Achromatopsia. Georgiou M; Robson AG; Singh N; Pontikos N; Kane T; Hirji N; Ripamonti C; Rotsos T; Dubra A; Kalitzeos A; Webster AR; Carroll J; Michaelides M Invest Ophthalmol Vis Sci; 2019 Dec; 60(15):5112-5123. PubMed ID: 31826238 [TBL] [Abstract][Full Text] [Related]
15. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024 [TBL] [Abstract][Full Text] [Related]
16. Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene. Domingo-Prim J; Abad-Morales V; Riera M; Navarro R; Corcostegui B; Pomares E Stem Cell Res; 2019 Oct; 40():101569. PubMed ID: 31520890 [TBL] [Abstract][Full Text] [Related]
17. Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. Doucette L; Green J; Black C; Schwartzentruber J; Johnson GJ; Galutira D; Young TL Ophthalmic Genet; 2013 Sep; 34(3):119-29. PubMed ID: 23362848 [TBL] [Abstract][Full Text] [Related]
18. A nonhuman primate model of inherited retinal disease. Moshiri A; Chen R; Kim S; Harris RA; Li Y; Raveendran M; Davis S; Liang Q; Pomerantz O; Wang J; Garzel L; Cameron A; Yiu G; Stout JT; Huang Y; Murphy CJ; Roberts J; Gopalakrishna KN; Boyd K; Artemyev NO; Rogers J; Thomasy SM J Clin Invest; 2019 Feb; 129(2):863-874. PubMed ID: 30667376 [TBL] [Abstract][Full Text] [Related]
19. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Nishiguchi KM; Sandberg MA; Gorji N; Berson EL; Dryja TP Hum Mutat; 2005 Mar; 25(3):248-58. PubMed ID: 15712225 [TBL] [Abstract][Full Text] [Related]