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Journal Abstract Search

192 related items for PubMed ID: 21338411

  • 41. Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
    Balasubramanian R, Crowley WF.
    Am J Med Genet C Semin Med Genet; 2017 Dec; 175(4):507-515. PubMed ID: 29152903
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  • 46. 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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  • 48. Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
    Cappuccio G, Ginocchio VM, Maffè A, Ungari S, Andria G, Melis D.
    Clin Genet; 2014 Feb; 85(2):201-2. PubMed ID: 23495722
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  • 49. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
    Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG.
    Nat Genet; 2004 Sep; 36(9):955-7. PubMed ID: 15300250
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  • 50. 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; 17(4):249-53. PubMed ID: 18978652
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  • 51. Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
    Gage PJ, Hurd EA, Martin DM.
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):7923-30. PubMed ID: 26670829
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  • 53. 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; 152A(3):674-86. PubMed ID: 20186815
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  • 54. 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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  • 55. 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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  • 58. CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.
    Yan S, Thienthanasit R, Chen D, Engelen E, Brühl J, Crossman DK, Kesterson R, Wang Q, Bouazoune K, Jiao K.
    Proc Natl Acad Sci U S A; 2020 Nov 17; 117(46):28847-28858. PubMed ID: 33127760
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