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681 related items for PubMed ID: 15953638
1. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638 [Abstract] [Full Text] [Related]
2. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, Hu J, Baird J, Baehr W, Creel DJ, Zhang K. Mol Vis; 2005 Feb 20; 11():143-51. PubMed ID: 15735604 [Abstract] [Full Text] [Related]
3. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC. Arch Ophthalmol; 2001 Jan 20; 119(1):96-105. PubMed ID: 11146732 [Abstract] [Full Text] [Related]
4. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family. Van Ghelue M, Eriksen HL, Ponjavic V, Fagerheim T, Andréasson S, Forsman-Semb K, Sandgren O, Holmgren G, Tranebjaerg L. Ophthalmic Genet; 2000 Dec 20; 21(4):197-209. PubMed ID: 11135490 [Abstract] [Full Text] [Related]
5. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Invest Ophthalmol Vis Sci; 2005 Jun 20; 46(6):1891-8. PubMed ID: 15914600 [Abstract] [Full Text] [Related]
6. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT. Ophthalmology; 2005 Sep 20; 112(9):1592-8. PubMed ID: 16019073 [Abstract] [Full Text] [Related]
9. 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 20; 25(3):248-58. PubMed ID: 15712225 [Abstract] [Full Text] [Related]
11. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1. Smith M, Whittock N, Searle A, Croft M, Brewer C, Cole M. Eye (Lond); 2007 Sep 20; 21(9):1220-5. PubMed ID: 17041576 [Abstract] [Full Text] [Related]
13. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Arch Ophthalmol; 2001 Nov 20; 119(11):1667-73. PubMed ID: 11709018 [Abstract] [Full Text] [Related]
14. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D. Invest Ophthalmol Vis Sci; 2010 Aug 20; 51(8):3884-92. PubMed ID: 20220053 [Abstract] [Full Text] [Related]
15. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT. Br J Ophthalmol; 2005 Feb 20; 89(2):198-206. PubMed ID: 15665353 [Abstract] [Full Text] [Related]
16. X-linked cone dysfunction syndrome with myopia and protanopia. Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD, Moore AT, Hunt DM. Ophthalmology; 2005 Aug 20; 112(8):1448-54. PubMed ID: 15953640 [Abstract] [Full Text] [Related]
17. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. Manes G, Mamouni S, Hérald E, Richard AC, Sénéchal A, Aouad K, Bocquet B, Meunier I, Hamel CP. Mol Vis; 2017 Aug 20; 23():198-209. PubMed ID: 28442884 [Abstract] [Full Text] [Related]
18. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Ophthalmology; 2010 Apr 20; 117(4):825-30.e1. PubMed ID: 20079539 [Abstract] [Full Text] [Related]
19. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP. Am J Ophthalmol; 2008 Jun 20; 145(6):1099-106. PubMed ID: 18400204 [Abstract] [Full Text] [Related]
20. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jägle H, Kohl S, Wissinger B, Koch KW. Hum Mutat; 2009 Aug 20; 30(8):E782-96. PubMed ID: 19459154 [Abstract] [Full Text] [Related] Page: [Next] [New Search]