✦ LIBER ✦

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein–Taybi syndrome

✍ Scribed by Angeline H.M. Lai; Maggie S. Brett; Wai-Hoe Chin; Eileen C.P. Lim; Jasmine S.H. Ng; Ene-Choo Tan

Book ID: 116508789
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 564 KB
Volume: 499
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.02.043

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rubinstein–Taybi syndrome and Hirschspru

Rubinstein–Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

✍ B. Isidor; G. Podevin; C. Camby; J.-F. Mosnier; A. Chauty; J.-M. Lyet; P. Fergel 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 2 views

Exon deletions of the EP300 and CREBBP g

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

✍ Tsai, Anne Chun-Hui; J Dossett, Cherilyn; Walton, Carol S; E Cramer, Andrea; Eng 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 590 KB

A novel 1p31.3p32.2 deletion involving t

A novel 1p31.3p32.2 deletion involving theNFIAgene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum

✍ Udo Koehler; Elke Holinski-Feder; Birgit Ertl-Wagner; Juergen Kunz; Arpad von Mo 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 270 KB

Characterization of a deletion mutation

Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome

✍ Tadashi Ariga; Masafumi Yamada; Sukeyuki Ito; Mika Iwamura; Mikiro Iseki; Yukio 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 326 KB 👁 2 views

A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot stud

Array-CGH in a series of 30 patients wit

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

✍ P. Callier; L. Faivre; C. Thauvin-Robinet; N. Marle; A.L. Mosca; P. D'Athis; J. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB 👁 3 views