๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Mutational analysis ofBARHL1andBARX1in three new patients with Joubert syndrome

โœ Scribed by Gould, Douglas B. ;Walter, Michael A.

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
123 KB
Volume
131A
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Jagged-1 mutation analysis in Italian Al
Jagged-1 mutation analysis in Italian Alagille syndrome patients
โœ Giuseppe Pilia; Manuela Uda; Dolores Macis; Fulvia Frau; Laura Crisponi; Fiorell ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 389 KB ๐Ÿ‘ 1 views

## Communicated by Riccardo Fodde Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In th

Mutation analysis of Jagged1 (JAG1) in A
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
โœ Raymond P. Colliton; Lynn Bason; Feng-Min Lu; David A. Piccoli; Ian D. Krantz; N ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 21 KB ๐Ÿ‘ 1 views

Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS. These include total gene deletions, protein trun

Oculocerebrorenal syndrome of Lowe: Thre
Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes
โœ Kawano, Tomoyasu; Indo, Yasuhiro; Nakazato, Hitoshi; Shimadzu, Mitsunobu; Matsud ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 62 KB ๐Ÿ‘ 2 views

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified

Mutation analysis of the FRAS1 gene demo
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome
โœ A. Slavotinek; C. Li; E.H. Sherr; A.E. Chudley ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 166 KB ๐Ÿ‘ 1 views

## Abstract Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the __FRAS1__ gene