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Journal Abstract Search

362 related items for PubMed ID: 11527955

  • 41.
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  • 42. Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.
    Dryja TP, McEvoy JA, McGee TL, Berson EL.
    Invest Ophthalmol Vis Sci; 2000 Sep; 41(10):3124-7. PubMed ID: 10967073
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  • 43.
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  • 44. A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family.
    Saini S, Robinson PN, Singh JR, Vanita V.
    Exp Eye Res; 2012 Nov; 104():82-8. PubMed ID: 23041261
    [Abstract] [Full Text] [Related]

  • 45. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1298-304. PubMed ID: 17325176
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  • 46.
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  • 47. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
    Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.
    Invest Ophthalmol Vis Sci; 2003 May; 44(5):2171-7. PubMed ID: 12714658
    [Abstract] [Full Text] [Related]

  • 48. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
    Schuster A, Weisschuh N, Jägle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B.
    Br J Ophthalmol; 2005 Oct; 89(10):1258-64. PubMed ID: 16170112
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  • 49. Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.
    Liu L, Chen H, Liu M, Jin L, Wei Y, Wu X, Liu Y, Xhu R, Chai J.
    Chin Med J (Engl); 2002 Jun; 115(6):833-6. PubMed ID: 12123547
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  • 52. Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis.
    Zhang XL, Liu M, Meng XH, Fu WL, Yin ZQ, Huang JF, Zhang X.
    Life Sci; 2006 Feb 23; 78(13):1494-8. PubMed ID: 16229860
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  • 53. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
    Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2010 Aug 23; 51(8):4266-72. PubMed ID: 20237254
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  • 54. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
    Morimura H, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 1999 Apr 23; 40(5):1000-4. PubMed ID: 10102299
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  • 55. Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.
    Al-Maskari A, O'grady A, Pal B, McKibbin M.
    Eye (Lond); 2009 Mar 23; 23(3):519-21. PubMed ID: 19218993
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  • 56.
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  • 57. RP1 protein truncating mutations predominate at the RP1 adRP locus.
    Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2000 Dec 23; 41(13):4069-73. PubMed ID: 11095597
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  • 58. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
    Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H.
    Optom Vis Sci; 2012 May 23; 89(5):684-91. PubMed ID: 22504327
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  • 59. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
    Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.
    Invest Ophthalmol Vis Sci; 2006 Jul 23; 47(7):3052-64. PubMed ID: 16799052
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  • 60. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
    Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA.
    J Med Genet; 2005 Nov 23; 42(11):e67. PubMed ID: 16272259
    [Abstract] [Full Text] [Related]

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