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Journal Abstract Search


217 related items for PubMed ID: 12882809

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  • 3. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
    Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, Schorderet DF, Sheffield VC, Stone EM.
    Ophthalmic Genet; 1996 Dec; 17(4):175-86. PubMed ID: 9010868
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  • 4. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
    Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.
    Ophthalmology; 1995 Feb; 102(2):246-55. PubMed ID: 7862413
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  • 5. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.
    Nakazawa M, Wada Y, Tamai M.
    Retina; 1995 Feb; 15(6):518-23. PubMed ID: 8747448
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  • 10. Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.
    van Lith-Verhoeven JJ, Cremers FP, van den Helm B, Hoyng CB, Deutman AF.
    Mol Vis; 2003 Apr 24; 9():138-43. PubMed ID: 12724643
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  • 13. 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 24; 32(9):1942-9. PubMed ID: 22466463
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  • 15. Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene.
    Hoyng CB, Heutink P, Testers L, Pinckers A, Deutman AF, Oostra BA.
    Am J Ophthalmol; 1996 Jun 24; 121(6):623-9. PubMed ID: 8644804
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  • 18. 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 24; 132(5):693-9. PubMed ID: 11704030
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  • 20. A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.
    Yang Z, Lin W, Moshfeghi DM, Thirumalaichary S, Li X, Jiang L, Zhang H, Zhang S, Kaiser PK, Traboulsi EI, Zhang K.
    Am J Ophthalmol; 2003 Feb 24; 135(2):213-8. PubMed ID: 12566026
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