✦ LIBER ✦

Immune Defects in Rubinstein-Taybi Syndrome With and Without Deletion of CREBBP

✍ Scribed by Naimi, D.R.; Munoz, J.; Rubinstein, J.; Hostoffer, R.W.

Book ID: 119276971
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 185 KB
Volume: 117
Category: Article
ISSN: 1097-6825
DOI: 10.1016/j.jaci.2005.12.438

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Analysis of CBP (CREBBP) gene deletions

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR

✍ Isabelle Coupry; Laurence Monnet; Azza Abd El Moneim Attia; Laurence Taine; Didi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB

## Communicated by Paolo M. Fortina Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome characterized by facial abnormalities, broad thumbs, broad big toes, and growth and mental retardation as the main clinical features. RTS was shown to be associated with disruption of the CREB-binding pr

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

High frequency of mosaic CREBBP deletion

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints

✍ Cristina Gervasini; Paola Castronovo; Angela Bentivegna; Federica Mottadelli; Fr 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 439 KB

A submicroscopic deletion involving part

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

✍ Angeline H.M. Lai; Maggie S. Brett; Wai-Hoe Chin; Eileen C.P. Lim; Jasmine S.H. 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 564 KB

Submicroscopic deletion of chromosome 16

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

✍ Taine, Laurence; Goizet, Cyril; Wen, Zong Qi; Petrij, Fred; Breuning, Martijn H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 2 views

The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in