✦ LIBER ✦

Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2

✍ Scribed by E.F. Sanford; K. Bermudez-Wagner; L.J.B. Jeng; K.A. Rauen; Anne M. Slavotinek

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 248 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.34247

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Findings from aCGH in patients with cong

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

✍ S. Kantarci; D. Casavant; C. Prada; M. Russell; J. Byrne; L. Wilkins Haug; R. Je 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views

## Abstract Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect that can occur in isolation or as part of a malformation complex. Considerable progress is being made in the identification of genetic causes of CDH. We applied array‐based comparative genomic hybridiza

Smith–Magenis syndrome and moyamoya dise

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

✍ Santhosh Girirajan; Roberto Mendoza-Londono; Christopher N. Vlangos; Lucie Dupui 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 283 KB 👁 1 views

A large interstitial deletion of 17p13.1

A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies

✍ Toshiyuki Yamamoto; Hideaki Ueda; Motoyoshi Kawataki; Michiko Yamanaka; Toshihid 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB 👁 1 views

Findings from aCGH in patients with cong

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (Am J Med Genet 140A:17–23, 2006)

✍ S. Kantarci; D. Casavant; C. Prada; M. Russell; J. Byrne; L. Wilkins Haug; R. Je 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 52 KB 👁 1 views

Apparent mosaicism for del(17)(p11.2) ru

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient

✍ Juyal, Ramesh C. ;Finucane, Brenda ;Shaffer, Lisa G. ;Lupski, James R. ;Greenber 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 1 views