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493 related items for PubMed ID: 11095629

  • 1. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
    Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Dec; 41(13):4293-9. PubMed ID: 11095629
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  • 2. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.
    Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.
    Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2735-42. PubMed ID: 10937591
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  • 6. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
    Gu SM, Thompson DA, Srikumari CR, Lorenz B, Finckh U, Nicoletti A, Murthy KR, Rathmann M, Kumaramanickavel G, Denton MJ, Gal A.
    Nat Genet; 1997 Oct; 17(2):194-7. PubMed ID: 9326941
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  • 7. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
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  • 8. Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
    Galvin JA, Fishman GA, Stone EM, Koenekoop RK.
    Ophthalmology; 2005 Feb; 112(2):349-56. PubMed ID: 15691574
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  • 12. Clinical course and visual function in a family with mutations in the RPE65 gene.
    Felius J, Thompson DA, Khan NW, Bingham EL, Jamison JA, Kemp JA, Sieving PA.
    Arch Ophthalmol; 2002 Jan; 120(1):55-61. PubMed ID: 11786058
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  • 14. Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations.
    Caruso RC, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Mullins CL, Boye SL, Hauswirth WW, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2010 Oct; 51(10):5304-13. PubMed ID: 20484585
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  • 15. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.
    Samardzija M, von Lintig J, Tanimoto N, Oberhauser V, Thiersch M, Remé CE, Seeliger M, Grimm C, Wenzel A.
    Hum Mol Genet; 2008 Jan 15; 17(2):281-92. PubMed ID: 17933883
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