✦ LIBER ✦

Phenotypic variability of atypical 22q11.2 deletions not including TBX1

✍ Scribed by Judith M.A. Verhagen; Karin E.M. Diderich; Grétel Oudesluijs; Grazia M.S. Mancini; Alex J. Eggink; Anna C. Verkleij-Hagoort; Irene A.L. Groenenberg; Patrick J. Willems; Frederik A. du Plessis; Stella A. de Man; Malgorzata I. Srebniak; Diane van Opstal; Lorette O.M. Hulsman; Laura J.C.M. van Zutven; Marja W. Wessels

Book ID: 115549362
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 247 KB
Volume: 158A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35517

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Human TBX1 Missense Mutations Cause Gain

Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions

✍ Christiane Zweier; Heinrich Sticht; Inci Aydin-Yaylagül; Christine E. Campbell; 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 477 KB

4q34.1–q35.2 deletion in a boy with phen

4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

✍ Goran Cuturilo; Björn Menten; Aleksandar Krstic; Danijela Drakulic; Ida Jovanovi 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 164 KB

Phenotypic variability of distal 22q11.2

Phenotypic variability of distal 22q11.2 copy number abnormalities

✍ Tiong Yang Tan; Amanda Collins; Paul A. James; George McGillivray; Zornitza Star 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 885 KB

Atypical deletion of 22q11.2: Detection

Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

✍ Marie-Paule Beaujard; Sandra Chantot; Michèle Dubois; Boris Keren; Wassila Carpe 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 652 KB

Clinical utility gene card for: DiGeorge

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1)

✍ Schwinger, Eberhard; Devriendt, Koen; Rauch, Anita; Philip, Nicole 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 149 KB

Genotype and cardiovascular phenotype co

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

✍ Tingwei Guo; Donna McDonald-McGinn; Anna Blonska; Alan Shanske; Anne S. Bassett; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 611 KB

Haploinsufficiency of TBX1, encoding a Tbox transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge /22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whethe