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Journal Abstract Search

229 related items for PubMed ID: 17041576

  • 1. 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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  • 3. 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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  • 6. 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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  • 9. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
    Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.
    Br J Ophthalmol; 2008 Aug 20; 92(8):1086-91. PubMed ID: 18653602
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  • 10. A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
    Perrault I, Hanein S, Gerber S, Lebail B, Vlajnik P, Barbet F, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM.
    Hum Mutat; 2005 Feb 20; 25(2):222. PubMed ID: 15643614
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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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  • 12. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr 20; 47(4):1630-5. PubMed ID: 16565402
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  • 13. 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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  • 15. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
    Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M.
    Ophthalmic Genet; 2005 Sep 20; 26(3):119-24. PubMed ID: 16272056
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  • 16. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.
    Am J Ophthalmol; 2018 Jun 20; 190():58-68. PubMed ID: 29559409
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  • 17. Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology.
    Collery RF, Cederlund ML, Kennedy BN.
    Exp Eye Res; 2013 Mar 20; 108():120-8. PubMed ID: 23328348
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  • 18. Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
    Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C.
    Br J Ophthalmol; 2004 Dec 20; 88(12):1533-7. PubMed ID: 15548806
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  • 19. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun 20; 41(7):1898-908. PubMed ID: 10845615
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