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Journal Abstract Search

336 related items for PubMed ID: 20453063

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  • 2. 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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  • 6. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
    Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K.
    J Pediatr; 2006 Mar; 148(3):410-4. PubMed ID: 16615981
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  • 7. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.
    Batsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S.
    PLoS One; 2012 Mar; 7(12):e52640. PubMed ID: 23285124
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  • 13. Radial aplasia in CHARGE syndrome: a new association.
    Wright EM, O'Connor R, Kerr BA.
    Eur J Med Genet; 2009 Mar; 52(4):239-41. PubMed ID: 19375527
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  • 14. Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome.
    Asakura Y, Toyota Y, Muroya K, Kurosawa K, Fujita K, Aida N, Kawame H, Kosaki K, Adachi M.
    J Clin Endocrinol Metab; 2008 Mar; 93(3):920-4. PubMed ID: 18089695
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  • 15. The cardiac phenotype in patients with a CHD7 mutation.
    Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.
    Circ Cardiovasc Genet; 2013 Jun; 6(3):248-54. PubMed ID: 23677905
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  • 16. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
    Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network.
    Am J Med Genet A; 2021 Feb; 185(2):544-548. PubMed ID: 33184947
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  • 17. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
    Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW.
    Am J Hum Genet; 2006 Feb; 78(2):303-14. PubMed ID: 16400610
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  • 18. Immunological abnormalities in CHARGE syndrome.
    Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC.
    Eur J Med Genet; 2007 Feb; 50(5):338-45. PubMed ID: 17684005
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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; 48(5):334-42. PubMed ID: 21378379
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  • 20. Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.
    Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP.
    Hum Mol Genet; 2005 Nov 15; 14(22):3463-76. PubMed ID: 16207732
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