✦ LIBER ✦

Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum

✍ Scribed by Verena Matejas; Bernward Hinkes; Faisal Alkandari; Lihadh Al-Gazali; Ellen Annexstad; Mehmet B. Aytac; Margaret Barrow; Květa Bláhová; Detlef Bockenhauer; Hae Il Cheong; Iwona Maruniak-Chudek; Pierre Cochat; Jörg Dötsch; Priya Gajjar; Raoul C. Hennekam; Françoise Janssen; Mikhail Kagan; Ariana Kariminejad; Markus J. Kemper; Jens Koenig; Jillene Kogan; Hester Y. Kroes; Eberhard Kuwertz-Bröking; Amy F. Lewanda; Ana Medeira; Jutta Muscheites; Patrick Niaudet; Michel Pierson; Anand Saggar; Laurie Seaver; Mohnish Suri; Alexey Tsygin; Elke Wühl; Aleksandra Zurowska; Steffen Uebe; Friedhelm Hildebrandt; Corinne Antignac; Martin Zenker

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 257 KB
Volume: 31
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.21304

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypic spectrum associated with muta

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

✍ Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yu 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB

The phenotypic spectrum related to the h

The phenotypic spectrum related to the human epilepsy susceptibility gene “EJM1”

✍ Dr T. Sander; T. Hildmann; D. Janz; T. F. Wienker; H. Neitzel; A. Bianchi; G. Ba 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 632 KB

## Abstract Linkage studies of families ascertained through patients with juvenile myoclonic epilepsy (JME) suggest that an HLA‐linked susceptibility gene on chromosome 6, designated “EJM1,” predisposes to a group of idiopathic generalized epilepsies (IGEs) comprising JME, juvenile absence epilepsy

The full spectrum of holoprosencephaly-a

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

✍ Erich Roessler; Felicitas Lacbawan; Christèle Dubourg; Aimee Paulussen; Jos Herb 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB

Mutations of the ZIC2 transcription factor gene are among the most common heterozygous variations detected in holoprosencephaly (HPE) patients, a patient group who lack critical midline forebrain specification due to defective embryonic signaling during development. Recent studies indicate that com

Mutations in the human TWIST gene

✍ Karen W. Gripp; Elaine H. Zackai; Catherine A. Stolle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB 👁 2 views

## Saethre -Chotzen syndrome is a relatively common craniosynostosis disorder with autosomal dominant inheritance. Mutations in the TWIST gene have been identified in patients with Saethre-Chotzen syndrome. The TWIST gene product is a transcription factor with DNA binding and helix-loop-helix domai

Mutations in the human TWIST gene

✍ Karen W. Gripp; Elaine H. Zackai; Catherine A. Stolle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 59 KB 👁 2 views

Mutations in the human DHCR7 gene

✍ Martina Witsch-Baumgartner; Judith Löffler; Gerd Utermann 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 356 KB

The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive metabolic disorder characterized by variable congenital malformations, facial dysmorphism, and mental retardation. Mutations in the DHCR7 gene have been identified in SLOS patients. This gene encodes for the enzyme D7sterol reductase wh