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Journal Abstract Search

325 related items for PubMed ID: 18445044

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  • 3. 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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  • 4. 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; 72(2):112-21. PubMed ID: 17661815
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  • 5. Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype.
    Wincent J, Schulze A, Schoumans J.
    Eur J Med Genet; 2009 Aug; 52(4):271-2. PubMed ID: 19248844
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  • 10. 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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  • 17. 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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  • 18. [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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  • 19. 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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  • 20. 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 29; 6(3):248-54. PubMed ID: 23677905
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