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Journal Abstract Search

118 related items for PubMed ID: 12882812

  • 1. De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
    Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM.
    Invest Ophthalmol Vis Sci; 2003 Aug; 44(8):3593-7. PubMed ID: 12882812
    [Abstract] [Full Text] [Related]

  • 2. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
    [Abstract] [Full Text] [Related]

  • 3. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
    Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP.
    Br J Ophthalmol; 2015 Oct; 99(10):1360-5. PubMed ID: 25883087
    [Abstract] [Full Text] [Related]

  • 5. Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
    Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M.
    BMC Med Genet; 2006 Apr 05; 7():35. PubMed ID: 16597330
    [Abstract] [Full Text] [Related]

  • 6. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
    Kurata K, Hosono K, Hotta Y.
    Doc Ophthalmol; 2018 Aug 05; 137(1):47-56. PubMed ID: 30027431
    [Abstract] [Full Text] [Related]

  • 7. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A.
    Invest Ophthalmol Vis Sci; 1997 Sep 05; 38(10):1983-97. PubMed ID: 9331262
    [Abstract] [Full Text] [Related]

  • 8. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM.
    Invest Ophthalmol Vis Sci; 2019 Mar 01; 60(4):1192-1203. PubMed ID: 30913292
    [Abstract] [Full Text] [Related]

  • 9. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
    Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Jan 01; 33(1):73-80. PubMed ID: 22052604
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.
    Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R.
    Acta Ophthalmol Scand; 2007 May 01; 85(3):287-97. PubMed ID: 17488458
    [Abstract] [Full Text] [Related]

  • 11. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
    Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.
    Mol Vis; 2006 Oct 06; 12():1167-74. PubMed ID: 17093403
    [Abstract] [Full Text] [Related]

  • 12. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
    Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW.
    Mol Vis; 2012 Oct 06; 18():2411-9. PubMed ID: 23077400
    [Abstract] [Full Text] [Related]

  • 13. Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
    Riera M, Abad-Morales V, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcostegui B, Pomares E.
    Br J Ophthalmol; 2020 Feb 06; 104(2):173-181. PubMed ID: 31079053
    [Abstract] [Full Text] [Related]

  • 14. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A, Corton M, Nishiguchi KM, Muñoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C.
    Ophthalmology; 2012 Dec 06; 119(12):2616-21. PubMed ID: 22917891
    [Abstract] [Full Text] [Related]

  • 15. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
    Georgiou M, Grewal PS, Narayan A, Alser M, Ali N, Fujinami K, Webster AR, Michaelides M.
    Am J Ophthalmol; 2021 Jan 06; 221():299-310. PubMed ID: 32795431
    [Abstract] [Full Text] [Related]

  • 16. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May 06; 46(5):1735-41. PubMed ID: 15851576
    [Abstract] [Full Text] [Related]

  • 17. [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
    Wang DY, Fan BJ, Chan WM, Tam OS, Chiang WY, Lam SC, Pang CP.
    Zhonghua Yi Xue Za Zhi; 2005 Jun 22; 85(23):1613-7. PubMed ID: 16185528
    [Abstract] [Full Text] [Related]

  • 18. Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
    Abdulridha-Aboud W, Kjellström U, Andréasson S, Ponjavic V.
    Mol Vis; 2016 Jun 22; 22():362-73. PubMed ID: 27212874
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
    Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E.
    Br J Ophthalmol; 2002 Mar 22; 86(3):328-32. PubMed ID: 11864893
    [Abstract] [Full Text] [Related]

  • 20. Screening for mutations in a novel retinal-specific gene among Chinese patients with retinitis pigmentosa.
    Xiaoli Z, Weiling F, Pang CP, Yeung KY.
    Chin Med Sci J; 2002 Dec 22; 17(4):225-30. PubMed ID: 12901510
    [Abstract] [Full Text] [Related]

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