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Journal Abstract Search

435 related items for PubMed ID: 16169932

  • 1. 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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  • 2. Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
    Legendre M, Gonzales M, Goudefroye G, Bilan F, Parisot P, Perez MJ, Bonnière M, Bessières B, Martinovic J, Delezoide AL, Jossic F, Fallet-Bianco C, Bucourt M, Tantau J, Loget P, Loeuillet L, Laurent N, Leroy B, Salhi H, Bigi N, Rouleau C, Guimiot F, Quélin C, Bazin A, Alby C, Ichkou A, Gesny R, Kitzis A, Ville Y, Lyonnet S, Razavi F, Gilbert-Dussardier B, Vekemans M, Attié-Bitach T.
    J Med Genet; 2012 Nov; 49(11):698-707. PubMed ID: 23024289
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  • 5. Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.
    Aramaki M, Kimura T, Udaka T, Kosaki R, Mitsuhashi T, Okada Y, Takahashi T, Kosaki K.
    Birth Defects Res A Clin Mol Teratol; 2007 Jan; 79(1):50-7. PubMed ID: 17149726
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  • 8. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome.
    Wincent J, Holmberg E, Strömland K, Soller M, Mirzaei L, Djureinovic T, Robinson K, Anderlid B, Schoumans J.
    Clin Genet; 2008 Jul; 74(1):31-8. PubMed ID: 18445044
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  • 9. CHARGE syndrome: an update.
    Sanlaville D, Verloes A.
    Eur J Hum Genet; 2007 Apr; 15(4):389-99. PubMed ID: 17299439
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  • 10. Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research.
    Kosaki K.
    Congenit Anom (Kyoto); 2011 Mar; 51(1):12-5. PubMed ID: 21338411
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  • 18. 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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  • 20. 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 15; 36(9):955-7. PubMed ID: 15300250
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