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Journal Abstract Search

304 related items for PubMed ID: 17701983

  • 21. [Molecular diagnosis of CHARGE syndrom].
    Pedersen AM, Skovby F.
    Ugeskr Laeger; 2007 Jan 29; 169(5):402-6. PubMed ID: 17280632
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  • 22. 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 29; 74(1):31-8. PubMed ID: 18445044
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  • 23. CHARGE syndrome: an update.
    Sanlaville D, Verloes A.
    Eur J Hum Genet; 2007 Apr 29; 15(4):389-99. PubMed ID: 17299439
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  • 30. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.
    Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S.
    Clin Genet; 2013 Feb 29; 83(2):125-34. PubMed ID: 22462537
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  • 31. 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 29; 48(5):334-42. PubMed ID: 21378379
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  • 32. [The CHARGE association].
    Finel E, Parent P, Giroux JD, de Parscau L.
    Arch Pediatr; 1996 Oct 29; 3(10):1020-5. PubMed ID: 8952799
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  • 33. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
    Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D.
    Clin Genet; 2007 Aug 29; 72(2):112-21. PubMed ID: 17661815
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  • 34. 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 29; 43(3):211-217. PubMed ID: 16169932
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  • 35. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.
    Meisner JK, Martin DM.
    Am J Med Genet C Semin Med Genet; 2020 Mar 29; 184(1):81-89. PubMed ID: 31833191
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