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Journal Abstract Search

316 related items for PubMed ID: 21554267

  • 1. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
    Pauli S, von Velsen N, Burfeind P, Steckel M, Mänz J, Buchholz A, Borozdin W, Kohlhase J.
    Clin Genet; 2012 Mar; 81(3):234-9. PubMed ID: 21554267
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
    Michelucci A, Ghirri P, Iacopetti P, Conidi ME, Fogli A, Baldinotti F, Lunardi S, Forli F, Moscuzza F, Berrettini S, Boldrini A, Simi P, Pellegrini S.
    Int J Pediatr Otorhinolaryngol; 2010 Dec; 74(12):1441-4. PubMed ID: 20943277
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.
    Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP, Dodé C.
    J Clin Endocrinol Metab; 2014 Oct; 99(10):E2138-43. PubMed ID: 25077900
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  • 8. Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family.
    Colin E, Bonneau D, Boussion F, Guichet A, Delorme B, Triau S, Gillard P, Kitzis A, Bilan F.
    Prenat Diagn; 2012 Jul; 32(7):692-4. PubMed ID: 22517486
    [Abstract] [Full Text] [Related]

  • 9. Mutation update on the CHD7 gene involved in CHARGE syndrome.
    Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
    Hum Mutat; 2012 Aug; 33(8):1149-60. PubMed ID: 22461308
    [Abstract] [Full Text] [Related]

  • 10. 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; 83(2):125-34. PubMed ID: 22462537
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis.
    Bilan F, Legendre M, Charraud V, Manière B, Couet D, Gilbert-Dussardier B, Kitzis A.
    J Mol Diagn; 2012 Jan 01; 14(1):46-55. PubMed ID: 22033296
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 72(2):112-21. PubMed ID: 17661815
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 43(3):211-217. PubMed ID: 16169932
    [Abstract] [Full Text] [Related]

  • 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 01; 6(3):248-54. PubMed ID: 23677905
    [Abstract] [Full Text] [Related]

  • 16. A case of mild CHARGE syndrome associated with a splice site mutation in CHD7.
    Wells C, Loundon N, Garabedian N, Wiener-Vacher S, Cordier-Bouvier MD, Goudeffroye G, Attié-Bitach T, Marlin S.
    Eur J Med Genet; 2016 Apr 01; 59(4):195-7. PubMed ID: 26921530
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 148(3):410-4. PubMed ID: 16615981
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 49(11):698-707. PubMed ID: 23024289
    [Abstract] [Full Text] [Related]

  • 19. 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 Nov 01; 53(5):280-5. PubMed ID: 20624498
    [Abstract] [Full Text] [Related]

  • 20. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.
    Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM.
    Otol Neurotol; 2014 Sep 01; 35(8):1466-70. PubMed ID: 24979395
    [Abstract] [Full Text] [Related]

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