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Journal Abstract Search

157 related items for PubMed ID: 23249195

  • 1. Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes.
    Hoefsloot LH, Corsten-Janssen N, van Ravenswaaij-Arts CM.
    Expert Rev Mol Diagn; 2012 Nov; 12(8):795-7. PubMed ID: 23249195
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  • 2. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
    Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM.
    J Med Genet; 2011 May; 48(5):334-42. PubMed ID: 21378379
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  • 3. CHARGE syndrome and CHD7 gene mutation.
    de Arriba Muñoz A, Monge Galindo L, López Pisón J, Lafuente Hidalgo M, Pérez Delgado R, Domínguez Cajal M, Rebage V.
    Neurologia; 2011 May; 26(4):255. PubMed ID: 21196067
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  • 5. Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
    Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F.
    Prenat Diagn; 2012 Jul; 32(7):692-4. PubMed ID: 22517486
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  • 11. CHARGE syndrome: a review.
    Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S.
    J Paediatr Child Health; 2014 Jul; 50(7):504-11. PubMed ID: 24548020
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  • 12. Mutation update on the CHD7 gene involved in CHARGE syndrome.
    Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
    Hum Mutat; 2012 Aug; 33(8):1149-60. PubMed ID: 22461308
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  • 14. Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
    Luo H, Xie L, Wang SZ, Chen JL, Huang C, Wang J, Yang JF, Zhang WZ, Yang YF, Tan ZP.
    Eur J Med Genet; 2012 Nov; 55(11):646-9. PubMed ID: 22902603
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  • 16. Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.
    Lee SJ, Chae JH, Lee JA, Cho SI, Seo SH, Park H, Seong MW, Park SS.
    Ann Lab Med; 2015 Jan; 35(1):141-5. PubMed ID: 25553296
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  • 20. Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
    Choo DI, Tawfik KO, Martin DM, Raphael Y.
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):439-449. PubMed ID: 29082607
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