𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Expanding the phenotype of duplication of the Rubinstein–Taybi region on 16p13.3

✍ Scribed by Bruno Dallapiccola; Laura Bernardini; Antonio Novelli; Rita Mingarelli

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
113 KB
Volume
149A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Variation in microdeletions of the cycli
Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome
✍ Blough, Ruthann I.; Petrij, Fred; Dauwerse, Johannes G.; Milatovich-Cherry, Athe 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 views

Most reported microdeletions of the CREBbinding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3 region of the gene. In order to test the hypothesis that the rate of microdeletionpositive

Duplication of 7p: Further delineation o
Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm
✍ Reish, Orit ;Berry, Susan A. ;Dewald, Gordon ;King, Richard A. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB 👁 2 views

We report on a patient with duplication of 7p15+pter and review the literature. Patients with partial duplication of the distal 7p, including only the distal segment 7p15+pter, have a syndrome comparable to that of patients with a larger or complete duplication of 7p. This suggests that the critical