✦ LIBER ✦

CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin

✍ Scribed by S Pauli; N von Velsen; P Burfeind; M Steckel; J Mänz; A Buchholz; W Borozdin; J Kohlhase

Book ID: 110889274
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 509 KB
Volume: 81
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2011.01701.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

SALL1 mutations in sporadic Townes–Brock

SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

✍ Johann Böhm; Susanne Munk-Schulenburg; Stephanie Felscher; Jürgen Kohlhase 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

Ophthalmic features of CHARGE syndrome w

Ophthalmic features of CHARGE syndrome with CHD7 mutations

✍ Sachiko Nishina; Rika Kosaki; Tatsuhiko Yagihashi; Noriyuki Azuma; Nobuhiko Okam 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 2 views

Molecular and phenotypic aspects of CHD7

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

✍ Gabriel E. Zentner; Wanda S. Layman; Donna M. Martin; Peter C. Scacheri 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 200 KB 👁 2 views

Familial CHARGE syndrome because of CHD7

Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability

✍ A Delahaye; Y Sznajer; S Lyonnet; M Elmaleh-Bergès; I Delpierre; S Audollent; S 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 436 KB

Mutations in CHD7 in patients with CHARG

Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

✍ A. R. Gennery; M. A. Slatter; J. Rice; L. H. Hoefsloot; D. Barge; A. McLean-Took 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB

Embryonic expression profile of chicken

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome

✍ Michihiko Aramaki; Tokuhiro Kimura; Toru Udaka; Rika Kosaki; Takayuki Mitsuhashi 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 552 KB

## Abstract **BACKGROUND:** CHARGE syndrome represents a constellation of malformations: C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities. Recently, the __Chromodomain helicase