𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

✍ Scribed by M. Cecconi; F. Forzano; D. Milani; S. Cavani; C. Baldo; A. Selicorni; C. Pantaleoni; M. Silengo; G.B. Ferrero; G. Scarano; M. Della Monica; R. Fischetto; P. Grammatico; S. Majore; G. Zampino; L. Memo; E. Lucci Cordisco; G. Neri; M. Pierluigi; F. Dagna Bricarelli; M. Grasso; Francesca Faravelli


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
187 KB
Volume
134A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutation analysis of the M6b gene in pat
✍ Narayanan, Vinodh; Olinsky, Shari; Dahle, Elizabeth; Naidu, Sakkubai; Zoghbi, Hu πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 2 views

Human Xp22.2 has been proposed as a candidate region for the Rett syndrome (RTT) gene. M6b, a member of the proteolipid protein gene family, was mapped to Xp22.2 within one of the RTT candidate regions. In this article we describe the structure of the M6b gene, refine the physical mapping of M6b bet

GPC3 mutation analysis in a spectrum of
✍ Li, Madeline ;Shuman, Cheryl ;Fei, Yan Ling ;Cutiongco, Eva ;Bender, H.A. ;Steve πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 283 KB πŸ‘ 1 views

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes.

Mutation analysis of the MEN1 gene in Is
✍ Orit Jakobovitz-Picard; David Olchovsky; Meir Berezin; Azizela Ghodsizade; Zvi Z πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 69 KB πŸ‘ 2 views

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by hyperfunction and tumor formation of the parathyroids, anterior pituitary and endocrine pancreas. We carried out exon-specific, PCR-based DNA sequencing of the coding exons of the MEN1 gene in 8 Israeli MEN1 patients: 4 familial and 4 s