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Journal Abstract Search

384 related items for PubMed ID: 16019073

  • 1. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
    Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.
    Ophthalmology; 2005 Sep; 112(9):1592-8. PubMed ID: 16019073
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  • 3. Central areolar choroidal dystrophy.
    Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB.
    Ophthalmology; 2009 Apr; 116(4):771-82, 782.e1. PubMed ID: 19243827
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  • 4. Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
    Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.
    Invest Ophthalmol Vis Sci; 2011 Mar 01; 52(3):1557-66. PubMed ID: 21071739
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  • 7. Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina.
    Sears JE, Aaberg TA, Daiger SP, Moshfeghi DM.
    Am J Ophthalmol; 2001 Nov 01; 132(5):693-9. PubMed ID: 11704030
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  • 9. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2002 Jun 01; 109(6):1110-7. PubMed ID: 12045052
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  • 11. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.
    Nakazawa M, Wada Y, Tamai M.
    Retina; 1995 Jun 01; 15(6):518-23. PubMed ID: 8747448
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  • 12. Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
    Vaclavik V, Tran HV, Gaillard MC, Schorderet DF, Munier FL.
    Retina; 2012 Oct 01; 32(9):1942-9. PubMed ID: 22466463
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  • 16. Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
    Anand S, Sheridan E, Cassidy F, Inglehearn C, Williams G, Springell K, Allgar V, Kelly TL, McKibbin M.
    Retina; 2009 May 01; 29(5):682-8. PubMed ID: 19262438
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  • 19. A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.
    Pajic B, Weigell-Weber M, Schipper I, Kryenbühl C, Büchi ER, Spiegel R, Hergersberg M.
    Retina; 2006 Oct 01; 26(8):947-53. PubMed ID: 17031298
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  • 20. Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene.
    Passerini I, Sodi A, Giambene B, Menchini U, Torricelli F.
    Eur J Ophthalmol; 2007 Oct 01; 17(6):1000-3. PubMed ID: 18050133
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