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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

392 related items for PubMed ID: 17488458

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  • 24. Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations.
    Shastry BS.
    Am J Med Genet; 1994 Oct 01; 52(4):467-74. PubMed ID: 7747760
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  • 26. 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 Oct 01; 22():362-73. PubMed ID: 27212874
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  • 27. 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 01; 121(1):19-25. PubMed ID: 8554077
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  • 30. Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
    Selmer KK, Grøndahl J, Riise R, Brandal K, Braaten O, Bragadottir R, Undlien DE.
    Acta Ophthalmol; 2010 May 01; 88(3):323-8. PubMed ID: 19183411
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  • 32. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W.
    Invest Ophthalmol Vis Sci; 2006 Apr 01; 47(4):1630-5. PubMed ID: 16565402
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  • 33. A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Saga M, Mashima Y, Akeo K, Oguchi Y, Kudoh J, Shimizu N.
    Hum Genet; 1993 Nov 01; 92(5):519-21. PubMed ID: 8244346
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  • 34. Variable expressivity in a Japanese family with autosomal dominant retinitis pigmentosa closely linked to chromosome 19q.
    Nakazawa M, Xu S, Gal A, Wada Y, Tamai M.
    Arch Ophthalmol; 1996 Mar 01; 114(3):318-22. PubMed ID: 8600893
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  • 35. Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation.
    Richards SC, Creel DJ.
    Retina; 1995 Mar 01; 15(1):68-72. PubMed ID: 7754251
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  • 38. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
    Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C.
    Invest Ophthalmol Vis Sci; 2010 Jul 01; 51(7):3687-700. PubMed ID: 20164459
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