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Journal Abstract Search

513 related items for PubMed ID: 10937591

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

  • 2. 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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  • 3. 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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  • 4. 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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  • 5. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
    Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):70-9. PubMed ID: 20702822
    [Abstract] [Full Text] [Related]

  • 6. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 05; 118(5):888-94. PubMed ID: 21211845
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  • 7. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
    Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM.
    Invest Ophthalmol Vis Sci; 2011 Jan 05; 52(1):292-302. PubMed ID: 20811047
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  • 8. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.
    Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN.
    Ophthalmology; 2004 Aug 05; 111(8):1585-94. PubMed ID: 15288992
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  • 9. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA, Batlle IR, Batlle KG, Banerjee P, Cideciyan AV, Huang J, Alemán TS, Huang Y, Ott J, Gilliam TC, Knowles JA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 1999 Aug 05; 40(9):2106-14. PubMed ID: 10440267
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  • 10. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).
    Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR.
    Mol Vis; 2005 Feb 28; 11():152-62. PubMed ID: 15765048
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  • 13. 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 28; 51(10):5304-13. PubMed ID: 20484585
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  • 14. Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
    Galvin JA, Fishman GA, Stone EM, Koenekoop RK.
    Ophthalmology; 2005 Feb 28; 112(2):349-56. PubMed ID: 15691574
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  • 15. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2008 Feb 28; 49(2):751-7. PubMed ID: 18235024
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  • 16. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
    Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
    Invest Ophthalmol Vis Sci; 2007 Apr 28; 48(4):1824-31. PubMed ID: 17389517
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