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Journal Abstract Search

211 related items for PubMed ID: 11709018

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  • 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; 21(4):197-209. PubMed ID: 11135490
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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; 21(9):1220-5. PubMed ID: 17041576
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  • 10. 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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  • 11. GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
    Jiang F, Xu K, Zhang X, Xie Y, Bai F, Li Y.
    Doc Ophthalmol; 2015 Oct 20; 131(2):105-14. PubMed ID: 26298565
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  • 14. Variants at codon 838 in the GUCY2D gene result in different phenotypes of cone rod dystrophy.
    Sun Z, Wu S, Zhu T, Li H, Wei X, Du H, Sui R.
    Ophthalmic Genet; 2020 Dec 20; 41(6):548-555. PubMed ID: 32811265
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  • 16. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.
    Mukherjee R, Robson AG, Holder GE, Stockman A, Egan CA, Moore AT, Webster AR.
    Eye (Lond); 2014 Apr 20; 28(4):481-7. PubMed ID: 24480840
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  • 20. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
    Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB, Garbers DL, Bird AC, Moore AT, Hunt DM.
    Hum Mol Genet; 1998 Jul 20; 7(7):1179-84. PubMed ID: 9618177
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