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Journal Abstract Search

308 related items for PubMed ID: 11146732

  • 1. 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; 119(1):96-105. PubMed ID: 11146732
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  • 2. 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
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  • 4. 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
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  • 6. GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?
    Zobor D, Zrenner E, Wissinger B, Kohl S, Jägle H.
    Retina; 2014 Aug 20; 34(8):1576-87. PubMed ID: 24875811
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  • 7. 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
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  • 8. 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
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  • 11. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.
    Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson EL, Dryja TP, Baehr W.
    Invest Ophthalmol Vis Sci; 2004 Nov 20; 45(11):3863-70. PubMed ID: 15505030
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  • 12. Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
    Ito S, Nakamura M, Nuno Y, Ohnishi Y, Nishida T, Miyake Y.
    Invest Ophthalmol Vis Sci; 2004 May 20; 45(5):1480-5. PubMed ID: 15111605
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  • 13. Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
    Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT.
    Ophthalmology; 2000 Jan 20; 107(1):55-61. PubMed ID: 10647719
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  • 16. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
    Jacobson SG, Cideciyan AV, Huang Y, Hanna DB, Freund CL, Affatigato LM, Carr RE, Zack DJ, Stone EM, McInnes RR.
    Invest Ophthalmol Vis Sci; 1998 Nov 20; 39(12):2417-26. PubMed ID: 9804150
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  • 17. 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
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  • 19. 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
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  • 20. A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
    Castori M, Valente EM, Clementi M, Tormene AP, Brancati F, Caputo V, Dallapiccola B.
    Invest Ophthalmol Vis Sci; 2005 Oct 20; 46(10):3539-44. PubMed ID: 16186331
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