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Journal Abstract Search

437 related items for PubMed ID: 8058286

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  • 22. Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2002 Jun; 109(6):1110-7. PubMed ID: 12045052
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  • 25. Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
    Wroblewski JJ, Wells JA, Eckstein A, Fitzke FW, Jubb C, Keen TJ, Inglehearn CF, Bhattacharya SS, Arden GB, Jay MR.
    Br J Ophthalmol; 1994 Nov; 78(11):831-6. PubMed ID: 7848979
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  • 26. 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; 92(5):519-21. PubMed ID: 8244346
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  • 27. Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
    Kim RY, Dollfus H, Keen TJ, Fitzke FW, Arden GB, Bhattacharya SS, Bird AC.
    Arch Ophthalmol; 1995 Apr; 113(4):451-5. PubMed ID: 7710395
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  • 29. A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
    Bareil C, Hamel C, Arnaud B, Demaille J, Claustres M.
    Ophthalmic Genet; 1997 Sep; 18(3):129-38. PubMed ID: 9361310
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  • 30. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.
    Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ.
    Br J Ophthalmol; 2007 Nov; 91(11):1504-11. PubMed ID: 17504850
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  • 31. Detection of alterations in all three exons of the peripherin/RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system.
    Ekström U, Ponjavic V, Andréasson S, Ehinger B, Nilsson-Ehle P, Abrahamson M.
    Mol Pathol; 1998 Oct; 51(5):287-91. PubMed ID: 10193525
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  • 32. 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; 85(3):287-97. PubMed ID: 17488458
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  • 38. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
    van Lith-Verhoeven JJ, van den Helm B, Deutman AF, Bergen AA, Cremers FP, Hoyng CB, de Jong PT.
    Arch Ophthalmol; 2003 Oct; 121(10):1452-7. PubMed ID: 14557182
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  • 40. Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.
    Jacobson SG, Cideciyan AV, Kemp CM, Sheffield VC, Stone EM.
    Invest Ophthalmol Vis Sci; 1996 Jul; 37(8):1662-74. PubMed ID: 8675410
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