𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Confirmation of assigment of a locus for rubinstein-taybi syndrome gene to 16p13.3

✍ Scribed by Lacombe, Didier ;Saura, Robert ;Taine, Laurence ;Battin, Jacques


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
222 KB
Volume
44
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Submicroscopic deletion of chromosome 16
✍ Taine, Laurence; Goizet, Cyril; Wen, Zong Qi; Petrij, Fred; Breuning, Martijn H. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 1 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

Variation in microdeletions of the cycli
✍ Blough, Ruthann I.; Petrij, Fred; Dauwerse, Johannes G.; Milatovich-Cherry, Athe πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 51 KB πŸ‘ 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