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571 related items for PubMed ID: 20811047

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

  • 2. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
    Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.
    Invest Ophthalmol Vis Sci; 2011 May 09; 52(6):3032-8. PubMed ID: 21310915
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  • 6. RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
    Parameswarappa DC, Bagga DK, Upadhyaya A, Balasubramanian J, Pochaboina V, Muthineni V, Jalali S, Kannabiran C.
    Ophthalmic Genet; 2024 Jun 09; 45(3):303-312. PubMed ID: 38323530
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  • 8. 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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  • 9. Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations.
    Hull S, Holder GE, Robson AG, Mukherjee R, Michaelides M, Webster AR, Moore AT.
    Br J Ophthalmol; 2016 Nov 28; 100(11):1499-1505. PubMed ID: 26906952
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  • 10. 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 28; 243(5):417-26. PubMed ID: 15565294
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  • 11. 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 28; 41(13):4293-9. PubMed ID: 11095629
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  • 12. Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.
    Jakobsson C, Othman IS, Munier FL, Schorderet DF, Abouzeid H.
    Klin Monbl Augenheilkd; 2014 Apr 28; 231(4):405-10. PubMed ID: 24771178
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  • 13. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
    Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.
    Invest Ophthalmol Vis Sci; 2012 Jun 08; 53(7):3463-72. PubMed ID: 22531706
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  • 14. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
    Pasadhika S, Fishman GA, Stone EM, Lindeman M, Zelkha R, Lopez I, Koenekoop RK, Shahidi M.
    Invest Ophthalmol Vis Sci; 2010 May 08; 51(5):2608-14. PubMed ID: 19959640
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  • 15. Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
    Pennesi ME, Stover NB, Stone EM, Chiang PW, Weleber RG.
    Invest Ophthalmol Vis Sci; 2011 Oct 17; 52(11):8166-73. PubMed ID: 21900377
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  • 16. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.
    Ophthalmology; 2011 May 17; 118(5):888-94. PubMed ID: 21211845
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  • 17. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.
    Kumaran N, Moore AT, Weleber RG, Michaelides M.
    Br J Ophthalmol; 2017 Sep 17; 101(9):1147-1154. PubMed ID: 28689169
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  • 18. RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
    Katagiri S, Hayashi T, Kondo M, Tsukitome H, Yoshitake K, Akahori M, Ikeo K, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016 Jun 17; 37(2):161-9. PubMed ID: 25495949
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  • 19. 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 17; 50(5):2368-75. PubMed ID: 19117922
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  • 20. Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.
    Weleber RG, Pennesi ME, Wilson DJ, Kaushal S, Erker LR, Jensen L, McBride MT, Flotte TR, Humphries M, Calcedo R, Hauswirth WW, Chulay JD, Stout JT.
    Ophthalmology; 2016 Jul 17; 123(7):1606-20. PubMed ID: 27102010
    [Abstract] [Full Text] [Related]

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