✦ LIBER ✦

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

✍ Scribed by Weimin Bi; G. Mustafa Saifi; Christine J. Shaw; Katherina Walz; Patricia Fonseca; Meredith Wilson; Lorraine Potocki; James R. Lupski

Book ID: 106134054
Publisher: Springer
Year: 2004
Tongue: English
Weight: 500 KB
Volume: 115
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-004-1187-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Abnormal circadian rhythm of melatonin i

Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations

✍ Philip M. Boone; Russel J. Reiter; Daniel G. Glaze; Dun-Xian Tan; James R. Lupsk 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 2 views

Novel mutations of ubiquitin protein lig

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

✍ S. Russo; F. Cogliati; M. Viri; F. Cavalleri; A. Selicorni; L. Turolla; S. Belli 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (∼ ∼70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte

Identification of nine novel DHCR7 misse

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

✍ John S. Waye; Patrycja A. Krakowiak; Christopher A. Wassif; Allison L. Sterner; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital anomaly syndrome caused by deficiency of 7-dehydrocholesterol reductase (DHCR7), which catalyzes the last step of endogenous cholesterol synthesis. Surveys of SLOS patients have identified more than one hundred point mu

Confirmation of a particular but nonspec

Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p

✍ Meinecke, Peter 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 364 KB 👁 2 views

Mutations in PHD-like domain of the ATRX

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome

✍ C Badens; C Lacoste; N Philip; N Martini; S Courrier; F Giuliano; A Verloes; A M 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB