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Journal Abstract Search


190 related items for PubMed ID: 9361310

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  • 3. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.
    Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM.
    Arch Ophthalmol; 1993 Nov; 111(11):1531-42. PubMed ID: 8240110
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  • 6. Mutation analysis of the ROM1 gene in retinitis pigmentosa.
    Bascom RA, Liu L, Heckenlively JR, Stone EM, McInnes RR.
    Hum Mol Genet; 1995 Oct; 4(10):1895-902. PubMed ID: 8595413
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  • 10. 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; 17(6):1000-3. PubMed ID: 18050133
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  • 12. Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
    Matias-Florentino M, Ayala-Ramirez R, Graue-Wiechers F, Zenteno JC.
    Curr Eye Res; 2009 Dec; 34(12):1050-6. PubMed ID: 19958124
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  • 15. [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].
    Millá E, Héon E, Piguet B, Ducrey N, Butler N, Stone E, Schorderet DF, Munier F.
    Klin Monbl Augenheilkd; 1998 May; 212(5):305-8. PubMed ID: 9677563
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  • 16. Analysis of peripherin/RDS gene for Japanese retinal dystrophies.
    Fujiki K, Hotta Y, Hayakawa M, Fujimaki T, Takeda M, Isashiki Y, Ohba N, Kanai A.
    Jpn J Ophthalmol; 1998 May; 42(3):186-92. PubMed ID: 9690896
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  • 18. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.
    Souied EH, Rozet JM, Gerber S, Dufier JL, Soubrane G, Coscas G, Munnich A, Kaplan J.
    Eur J Ophthalmol; 1998 May; 8(2):98-101. PubMed ID: 9673478
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  • 19. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
    Dryja TP, Hahn LB, Kajiwara K, Berson EL.
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1972-82. PubMed ID: 9331261
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  • 20. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
    Felbor U, Schilling H, Weber BH.
    Hum Mutat; 1997 Sep; 10(4):301-9. PubMed ID: 9338584
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