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Journal Abstract Search

211 related items for PubMed ID: 24547928

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  • 7. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK, [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
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  • 11. 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; 37(2):161-9. PubMed ID: 25495949
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  • 14. 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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  • 16. Novel mutation identified in Leber congenital amaurosis - a case report.
    Sato S, Morimoto T, Tanaka S, Hotta K, Fujikado T, Tsujikawa M, Nishida K.
    BMC Ophthalmol; 2020 Jul 31; 20(1):313. PubMed ID: 32736544
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  • 17. 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 31; 266():235-247. PubMed ID: 38880373
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  • 20. Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.
    Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Trinavarat A, Atchaneeyasakul LO.
    Invest Ophthalmol Vis Sci; 2017 Apr 01; 58(4):2413-2420. PubMed ID: 28453600
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