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Journal Abstract Search

257 related items for PubMed ID: 8485575

  • 1. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
    Kajiwara K, Sandberg MA, Berson EL, Dryja TP.
    Nat Genet; 1993 Mar; 3(3):208-12. PubMed ID: 8485575
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  • 2. Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
    Fishman GA, Stone E, Gilbert LD, Vandenburgh K, Sheffield VC, Heckenlively JR.
    Ophthalmology; 1994 Aug; 101(8):1409-21. PubMed ID: 8058286
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  • 3. 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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  • 4. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
    Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F.
    Nat Genet; 1993 Mar; 3(3):213-8. PubMed ID: 8485576
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  • 6. 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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  • 7. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.
    Nakazawa M, Wada Y, Tamai M.
    Retina; 1995 Nov; 15(6):518-23. PubMed ID: 8747448
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  • 8. 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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  • 12. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
    Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J.
    Am J Ophthalmol; 1996 Jan; 121(1):19-25. PubMed ID: 8554077
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  • 14. Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci.
    Ray K, Acland GM, Aguirre GD.
    Invest Ophthalmol Vis Sci; 1996 Apr; 37(5):783-94. PubMed ID: 8603863
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  • 15. Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.
    Shastry BS, Trese MT.
    Biochem Biophys Res Commun; 1997 Feb 03; 231(1):103-5. PubMed ID: 9070228
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  • 17. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
    Keen TJ, Inglehearn CF.
    Hum Mutat; 1996 Feb 03; 8(4):297-303. PubMed ID: 8956033
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  • 19. 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 03; 121(6):623-9. PubMed ID: 8644804
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