✦ LIBER ✦

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

✍ Scribed by Zanni, G.; Saillour, Y.; Nagara, M.; Billuart, P.; Castelnau, L.; Moraine, C.; Faivre, L.; Bertini, E.; Durr, A.; Guichet, A.; Rodriguez, D.; des Portes, V.; Beldjord, C.; Chelly, J.

Book ID: 118062855
Publisher: Lippincott Williams and Wilkins
Year: 2005
Tongue: English
Weight: 759 KB
Volume: 65
Category: Article
ISSN: 0028-3878
DOI: 10.1212/01.wnl.0000182813.94713.ee

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The ARX mutations: A frequent cause of X

The ARX mutations: A frequent cause of X-linked mental retardation

✍ Magdalena Nawara; Krzysztof Szczaluba; Karine Poirier; Krystyna Chrzanowska; Jac 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 151 KB 👁 2 views

Mutations in the polyglutamine binding p

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

✍ Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana; Jensen, Lars R; Yntema, 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 460 KB

Mutations in the BRWD3 Gene Cause X-Link

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

✍ Michael Field; Patrick S. Tarpey; Raffaella Smith; Sarah Edkins; Sarah O’Meara; 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 424 KB

Novel JARID1C/SMCX mutations in patients

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

✍ Andreas Tzschach; Steffen Lenzner; Bettina Moser; Richard Reinhardt; Jamel Chell 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB

X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. He

Mutations in exon 1 of MECP2B are not a

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males

✍ Poirier, Karine; Francis, Fiona; Hamel, Ben; Moraine, Claude; Fryns, Jean Pierre 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 52 KB

Mutations in the FTSJ1 Gene Coding for a

Mutations in the FTSJ1 Gene Coding for a Novel S-Adenosylmethionine–Binding Protein Cause Nonsyndromic X-Linked Mental Retardation

✍ Kristine Freude; Kirsten Hoffmann; Lars-Riff Jensen; Martin B. Delatycki; Vincen 📂 Article 📅 2004 🏛 American Society of Human Genetics 🌐 English ⚖ 364 KB