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Journal Abstract Search

162 related items for PubMed ID: 19181907

  • 1. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
    Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B.
    J Med Genet; 2009 Feb; 46(2):136-44. PubMed ID: 19181907
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  • 2. Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.
    Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J.
    BMC Med Genet; 2011 Apr 04; 12():49. PubMed ID: 21457585
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  • 3. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.
    Invest Ophthalmol Vis Sci; 2002 Jun 04; 43(6):1715-24. PubMed ID: 12036970
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  • 8. Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
    Li Y, Deng T, Tong Y, Peng S, Dong B, He D.
    Mol Vis; 2008 Jun 04; 14():2451-7. PubMed ID: 19112530
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  • 12. Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.
    Chen J, Xu K, Zhang X, Jiang F, Liu L, Dong B, Ren Y, Li Y.
    Invest Ophthalmol Vis Sci; 2014 Sep 09; 55(10):6987-95. PubMed ID: 25205859
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  • 13. Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
    Loo JL, Singhal S, Rukmini AV, Tow S, Amati-Bonneau P, Procaccio V, Bonneau D, Gooley JJ, Reynier P, Ferré M, Milea D.
    Eye (Lond); 2017 Mar 09; 31(3):475-480. PubMed ID: 27858935
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  • 14. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
    Votruba M, Thiselton D, Bhattacharya SS.
    Br J Ophthalmol; 2003 Jan 09; 87(1):48-53. PubMed ID: 12488262
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  • 16. OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.
    Hamahata T, Fujimaki T, Fujiki K, Miyazaki A, Mizota A, Murakami A.
    Jpn J Ophthalmol; 2012 Jan 09; 56(1):91-7. PubMed ID: 22042570
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  • 17. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
    Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B.
    Hum Mol Genet; 2001 Jun 15; 10(13):1359-68. PubMed ID: 11440988
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