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Journal Abstract Search

237 related items for PubMed ID: 11786058

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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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  • 3. 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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  • 4. A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.
    Lorenz B, Poliakov E, Schambeck M, Friedburg C, Preising MN, Redmond TM.
    Invest Ophthalmol Vis Sci; 2008 Dec; 49(12):5235-42. PubMed ID: 18599565
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  • 5. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
    Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.
    Invest Ophthalmol Vis Sci; 2009 May; 50(5):2368-75. PubMed ID: 19117922
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  • 6. 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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  • 7. Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.
    Paunescu K, Wabbels B, Preising MN, Lorenz B.
    Graefes Arch Clin Exp Ophthalmol; 2005 May; 243(5):417-26. PubMed ID: 15565294
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  • 8. Clinical and electroretinographic findings of female carriers and affected males in a progressive X-linked cone-rod dystrophy (COD-1) pedigree.
    Brown J, Kimura AE, Gorin MB.
    Ophthalmology; 2000 Jun; 107(6):1104-10. PubMed ID: 10857830
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  • 9. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K.
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [Abstract] [Full Text] [Related]

  • 10. Phenotype in two families with RP3 associated with RPGR mutations.
    Lorenz B, Andrassi M, Kretschmann U.
    Ophthalmic Genet; 2003 Jun; 24(2):89-101. PubMed ID: 12789573
    [Abstract] [Full Text] [Related]

  • 11. Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
    Al-Khayer K, Hagstrom S, Pauer G, Zegarra H, Sears J, Traboulsi EI.
    Am J Ophthalmol; 2004 Feb; 137(2):375-7. PubMed ID: 14962443
    [Abstract] [Full Text] [Related]

  • 12. Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.
    El Matri L, Ambresin A, Schorderet DF, Kawasaki A, Seeliger MW, Wenzel A, Arsenijevic Y, Borruat FX, Munier FL.
    Graefes Arch Clin Exp Ophthalmol; 2006 Sep; 244(9):1104-12. PubMed ID: 16518657
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  • 15. Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.
    Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T.
    Acta Ophthalmol Scand; 2001 Aug; 79(4):359-65. PubMed ID: 11453854
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  • 16. Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.
    Bonilha VL, Rayborn ME, Li Y, Grossman GH, Berson EL, Hollyfield JG.
    Invest Ophthalmol Vis Sci; 2011 Oct 28; 52(11):8381-92. PubMed ID: 21931134
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  • 18. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
    Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC.
    Arch Ophthalmol; 2001 Nov 28; 119(11):1667-73. PubMed ID: 11709018
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