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Journal Abstract Search

437 related items for PubMed ID: 8058286

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U, Ponjavic V, Abrahamson M, Nilsson-Ehle P, Andrëasson S, Stenström I, Ehinger B.
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
    [Abstract] [Full Text] [Related]

  • 5. Ocular findings in patients with autosomal dominant retinitis pigmentosa and transversion mutation in codon 244 (Asn244Lys) of the peripherin/RDS gene.
    Nakazawa M, Kikawa E, Kamio K, Chida Y, Shiono T, Tamai M.
    Arch Ophthalmol; 1994 Dec; 112(12):1567-73. PubMed ID: 7993211
    [Abstract] [Full Text] [Related]

  • 6. Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
    Richards SC, Creel DJ.
    Retina; 1995 Dec; 15(1):68-72. PubMed ID: 7754251
    [Abstract] [Full Text] [Related]

  • 7. Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
    Fishman GA, Stone EM, Alexander KR, Gilbert LD, Derlacki DJ, Butler NS.
    Ophthalmology; 1997 Feb; 104(2):299-306. PubMed ID: 9052636
    [Abstract] [Full Text] [Related]

  • 8. Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.
    Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M.
    Arch Ophthalmol; 1996 Jan; 114(1):72-8. PubMed ID: 8540854
    [Abstract] [Full Text] [Related]

  • 9. Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).
    Lam BL, Vandenburgh K, Sheffield VC, Stone EM.
    Am J Ophthalmol; 1995 Jan; 119(1):65-71. PubMed ID: 7825692
    [Abstract] [Full Text] [Related]

  • 10. A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
    Ekström U, Andréasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, Ehinger B.
    Ophthalmic Genet; 1998 Sep; 19(3):149-56. PubMed ID: 9810570
    [Abstract] [Full Text] [Related]

  • 11. Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene.
    Nakazawa M, Naoi N, Wada Y, Nakazaki S, Maruiwa F, Sawada A, Tamai M.
    Retina; 1996 Sep; 16(5):405-10. PubMed ID: 8912967
    [Abstract] [Full Text] [Related]

  • 12. Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.
    McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ.
    Hum Mol Genet; 2002 May 01; 11(9):1005-16. PubMed ID: 11978760
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 3(3):208-12. PubMed ID: 8485575
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 3(3):213-8. PubMed ID: 8485576
    [Abstract] [Full Text] [Related]

  • 15. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
    Kemp CM, Jacobson SG, Cideciyan AV, Kimura AE, Sheffield VC, Stone EM.
    Invest Ophthalmol Vis Sci; 1994 Jul 01; 35(8):3154-62. PubMed ID: 8045710
    [Abstract] [Full Text] [Related]

  • 16. Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies.
    Budu, Hayasaka S, Matsumoto M, Yamada T, Zhang XY, Hayasaka Y.
    Jpn J Ophthalmol; 2001 Jul 01; 45(4):355-8. PubMed ID: 11485765
    [Abstract] [Full Text] [Related]

  • 17. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.
    Nakazawa M, Wada Y, Tamai M.
    Retina; 1995 Jul 01; 15(6):518-23. PubMed ID: 8747448
    [Abstract] [Full Text] [Related]

  • 18. Mutation analysis of the ROM1 gene in retinitis pigmentosa.
    Bascom RA, Liu L, Heckenlively JR, Stone EM, McInnes RR.
    Hum Mol Genet; 1995 Oct 01; 4(10):1895-902. PubMed ID: 8595413
    [Abstract] [Full Text] [Related]

  • 19. [Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes].
    Benítez Del Castillo JM, Trujillo MJ, Del Río T, García B, Ayuso C, García Sánchez J.
    Arch Soc Esp Oftalmol; 2000 Apr 01; 75(4):281-6. PubMed ID: 11151159
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 121(6):623-9. PubMed ID: 8644804
    [Abstract] [Full Text] [Related]

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