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Journal Abstract Search

1048 related items for PubMed ID: 18235024

  • 1. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
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  • 4. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
    Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP.
    Ophthalmic Genet; 2007 Sep; 28(3):135-42. PubMed ID: 17896311
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  • 5. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
    Robson AG, Webster AR, Michaelides M, Downes SM, Cowing JA, Hunt DM, Moore AT, Holder GE.
    Retina; 2010 Jan; 30(1):51-62. PubMed ID: 19952985
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  • 7. 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; 51(8):3884-92. PubMed ID: 20220053
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  • 9. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
    Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B.
    Invest Ophthalmol Vis Sci; 2011 Nov 07; 52(12):8621-9. PubMed ID: 21911584
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  • 10. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
    Piri N, Gao YQ, Danciger M, Mendoza E, Fishman GA, Farber DB.
    Ophthalmology; 2005 Jan 07; 112(1):159-66. PubMed ID: 15629837
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  • 12. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
    Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.
    Ophthalmology; 2013 Nov 07; 120(11):2338-43. PubMed ID: 23725738
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  • 14. 'Cone dystrophy with supranormal rod response' in children.
    Khan AO, Alrashed M, Alkuraya FS.
    Br J Ophthalmol; 2012 Mar 07; 96(3):422-6. PubMed ID: 21900228
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  • 15. 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 07; 46(6):1891-8. PubMed ID: 15914600
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  • 16. 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 07; 117(4):825-30.e1. PubMed ID: 20079539
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  • 18. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
    Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2009 Dec 07; 50(12):5944-54. PubMed ID: 19578027
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  • 19. 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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