✦ LIBER ✦

A Physical Map of the Mouseshaker-2Region Contains Many of the Genes Commonly Deleted in Smith–Magenis Syndrome (del17p11.2p11.2)

✍ Scribed by Frank J. Probst; Ken-Shiung Chen; Qi Zhao; Aihui Wang; Thomas B. Friedman; James R. Lupski; Sally A. Camper

Book ID: 115614599
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 155 KB
Volume: 55
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1998.5669

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Diagnostic FISH probes for del(17)(p11.2

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

✍ Christopher N. Vlangos; Meredith Wilson; Jan Blancato; Ann C.M. Smith; Sarah H. 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 1 views

Mosaicism for deletion 17p11.2 in a boy

Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome

✍ Finucane, Brenda M. ;Kurtz, Michael B. ;Ramesh Babu, V. ;Scott, Charles I. 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 592 KB

Neurologic and Developmental Features of

Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

✍ Andrea L. Gropman; Wallace C. Duncan; Ann C.M. Smith 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 645 KB

Hypoventilation in REM sleep in a case o

Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith–Magenis syndrome)

✍ Chiara Leoni; Laura Cesarini; Serena Dittoni; Domenica Battaglia; Antonio Novell 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 2 views

Two patients with duplication of 17p11.2

Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

✍ Brown, Angela; Phelan, Mary C.; Patil, Shivanand; Crawford, Eric; Rogers, R. Cur 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 1 views

J.M. and H.G. are two unrelated male patients with developmental delay. Cytogenetic analysis detected a duplication of 17~11.2 in both patients. The extent of the duplicated region was determined using single copy DNA probes: cen-Dl7S58-Dl7S29-D17S258-D 1757 1-D 175445-D 178122-tel. Four of the six

Early behavioural manifestation of Smith

Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy

✍ Einspieler, Christa; Hirota, Hiroyo; Yuge, Mariko; Dejima, Sunao; Marschik, Pete 📂 Article 📅 2012 🏛 Informa plc 🌐 English ⚖ 80 KB