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Journal Abstract Search

240 related items for PubMed ID: 18073582

  • 1. Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.
    Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J.
    Genet Med; 2007 Oct; 9(10):690-4. PubMed ID: 18073582
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  • 2. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
    Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM.
    Eur J Med Genet; 2008 Oct; 51(5):417-25. PubMed ID: 18472328
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  • 6. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
    Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM.
    J Med Genet; 2006 Apr; 43(4):306-14. PubMed ID: 16155193
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  • 10. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
    Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS.
    Am J Med Genet A; 2013 Dec; 161A(12):3182-6. PubMed ID: 23956205
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  • 12. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
    Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T.
    J Med Genet; 2006 Mar; 43(3):211-217. PubMed ID: 16169932
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  • 15. CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
    Pisaneschi E, Sirleto P, Lepri FR, Genovese S, Dentici ML, Petrocchi S, Angioni A, Digilio MC, Dallapiccola B.
    BMC Med Genet; 2015 Sep 03; 16():78. PubMed ID: 26334530
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  • 16. A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.
    Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA.
    Clin Dysmorphol; 2008 Oct 03; 17(4):249-53. PubMed ID: 18978652
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  • 19. 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 03; 48(5):334-42. PubMed ID: 21378379
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  • 20. Identification of one novel CHD7 mutation in a patient from China with atypical CHARGE syndrome.
    Cheng J, Ma D, Wu Y, Luo C, Huang C, Hu P, Zhang J, Jiang T, Xu Z.
    Gene; 2015 Oct 25; 571(2):298-302. PubMed ID: 26187070
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