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Journal Abstract Search

301 related items for PubMed ID: 28245802

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  • 2. 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; 43(6):1715-24. PubMed ID: 12036970
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  • 4. Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
    Schimpf S, Schaich S, Wissinger B.
    Hum Genet; 2006 Feb; 118(6):767-71. PubMed ID: 16323009
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  • 7. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
    Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P.
    Hum Mutat; 2003 Jun; 21(6):656. PubMed ID: 14961560
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  • 8. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
    Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M.
    Brain; 2014 Aug; 137(Pt 8):2164-77. PubMed ID: 24970096
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  • 13. Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.
    Gallus GN, Cardaioli E, Rufa A, Da Pozzo P, Bianchi S, D'Eramo C, Collura M, Tumino M, Pavone L, Federico A.
    Mol Vis; 2010 Feb 10; 16():178-83. PubMed ID: 20157369
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  • 14. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
    Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.
    Brain; 2007 Apr 10; 130(Pt 4):1029-42. PubMed ID: 17314202
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  • 16. Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
    Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B.
    PLoS One; 2021 Apr 10; 16(7):e0253987. PubMed ID: 34242285
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  • 19. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
    Li H, Jones EM, Li H, Yang L, Sun Z, Yuan Z, Chen R, Dong F, Sui R.
    Ophthalmic Genet; 2018 Oct 10; 39(5):569-576. PubMed ID: 29952689
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  • 20. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
    Ahuja AS, Selvam P, Vadlamudi C, Chopra H, Richter JE, Macklin SK, Samreen A, Helmi H, Mohammaad AN, Hines S, Davila MC, Atwal PS, Caulfield TR.
    Ophthalmic Genet; 2020 Dec 10; 41(6):563-569. PubMed ID: 32940104
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