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Journal Abstract Search

781 related items for PubMed ID: 20702822

  • 1. 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
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  • 2. 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 05; 51(10):5304-13. PubMed ID: 20484585
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  • 5. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
    Aleman TS, Soumittra N, Cideciyan AV, Sumaroka AM, Ramprasad VL, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.
    Invest Ophthalmol Vis Sci; 2009 Dec 05; 50(12):5944-54. PubMed ID: 19578027
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  • 8. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
    Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.
    Arch Ophthalmol; 2004 Jul 05; 122(7):1029-37. PubMed ID: 15249368
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  • 9. Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
    Orosz O, Czeglédi M, Kántor I, Balogh I, Vajas A, Takács L, Berta A, Losonczy G.
    Mol Vis; 2015 Jul 05; 21():124-30. PubMed ID: 25684977
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  • 12. 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 05; 49(2):751-7. PubMed ID: 18235024
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  • 14. 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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  • 16. RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
    Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J.
    Invest Ophthalmol Vis Sci; 2018 Oct 01; 59(12):5225-5236. PubMed ID: 30372751
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  • 17. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
    Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2006 Sep 01; 47(9):3736-44. PubMed ID: 16936081
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  • 18. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
    Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP.
    JAMA Ophthalmol; 2013 Oct 01; 131(10):1314-23. PubMed ID: 23929416
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  • 19. Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
    Zhang Q, Sun J, Liu Z, Wang H, Zhou H, Liu W, Jia H, Li N, Li T, Wang F, Sun X.
    Am J Ophthalmol; 2024 Oct 01; 266():235-247. PubMed ID: 38880373
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  • 20. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
    Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.
    Invest Ophthalmol Vis Sci; 2012 Jun 22; 53(7):3927-38. PubMed ID: 22570351
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