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Journal Abstract Search

248 related items for PubMed ID: 24979395

  • 1. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep; 35(8):1466-70. PubMed ID: 24979395
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  • 2. 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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  • 3. Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
    Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K.
    JAMA Otolaryngol Head Neck Surg; 2017 Feb 01; 143(2):168-177. PubMed ID: 27832265
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  • 6. 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 01; 48(5):334-42. PubMed ID: 21378379
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  • 8. Phenotypic spectrum of CHARGE syndrome based on clinical characteristics.
    Aksel Kılıçarslan Ö, Ataman E, Gürsoy S, Hazan F, Randa C, Çankaya T, Erçal D, Ülgenalp A, Giray Bozkaya Ö.
    Turk J Med Sci; 2018 Oct 31; 48(5):911-915. PubMed ID: 30384553
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  • 11. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
    Zentner GE, Layman WS, Martin DM, Scacheri PC.
    Am J Med Genet A; 2010 Mar 31; 152A(3):674-86. PubMed ID: 20186815
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  • 13. Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome.
    Lee B, Duz MB, Sagong B, Koparir A, Lee KY, Choi JY, Seven M, Yuksel A, Kim UK, Ozen M.
    Gene; 2016 Feb 01; 576(2 Pt 2):776-81. PubMed ID: 26551301
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  • 14. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.
    Adams ME, Hurd EA, Beyer LA, Swiderski DL, Raphael Y, Martin DM.
    J Comp Neurol; 2007 Oct 10; 504(5):519-32. PubMed ID: 17701983
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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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  • 18. Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
    Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B.
    Eur J Med Genet; 2010 Sep 03; 53(5):280-5. PubMed ID: 20624498
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  • 19. Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
    Chen X, Yan K, Gao Y, Wang H, Chen G, Wu B, Qin Q, Yang L, Zhou W.
    BMC Med Genet; 2019 May 30; 20(1):93. PubMed ID: 31146700
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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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