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Journal Abstract Search

315 related items for PubMed ID: 11135490

  • 1. 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; 21(4):197-209. PubMed ID: 11135490
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  • 3. 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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  • 4. 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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  • 8. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
    Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, Silva-Garcia R, Vrabec T, Hussles Maumenee I, Donoso L, Small KW.
    Hum Mutat; 2003 Feb 20; 21(2):170-1. PubMed ID: 12552567
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  • 13. 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
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  • 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
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  • 16. 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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  • 17. 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
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  • 19. 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
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  • 20. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug 20; 40(9):2106-14. PubMed ID: 10440267
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