✦ LIBER ✦

Families with X-linked hydrocephalus

✍ Scribed by Patrick Willems

Book ID: 115089924
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 35 KB
Volume: 36
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1989.tb03178.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

VACTERL with hydrocephalus: Family with

VACTERL with hydrocephalus: Family with X-linked VACTERL-H

✍ Lomas, Fred E.; Dahlstrom, Jane E.; Ford, Judith H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/ 3), and cardiac abnormalities (1/3).

Nine novel L1 CAM mutations in families

Nine novel L1 CAM mutations in families with X-linked hydrocephalus

✍ John R. MacFarlane; Jian-Sheng Du; Miriam E. Pepys; Simon Ramsden; Dian Donnai; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 2 views

Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual famili

Hydrocephalus with Hirschsprung disease:

Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum

✍ Toshiki Takenouchi; Mie Nakazawa; Yonehiro Kanemura; Sachiko Shimozato; Mami Yam 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB

Prenatal diagnosis of x-linked hydroceph

Prenatal diagnosis of x-linked hydrocephalus

✍ Olivier Brocard; Christiane Ragage; Mireille Vibert; Thierry Cassier; Stéphane K 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 384 KB

Since the description of X-linked hydrocephalus by Bickers and Adams in 1949,' genetic counseling concerning this disease has benefited from the addition of prenatal ultrasound examinations, and more recently from the progress made in genetic engineering.2 We are reporting on a case in which sonogra

A new mutation of theL1CAMgene in an X-l

A new mutation of theL1CAMgene in an X-linked hydrocephalus family

✍ Shuichi Izumoto; Mami Yamasaki; Norio Arita; Shoju Hiraga; Takanori Ohnishi; Ken 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 681 KB

X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in females. It is characterized by ventricular dilatation, mental retardation, deformity of the thumb and spastic paraparesis. Recently, 23 different mutations of the gene for the neural cell adhesion molecule, L1CAM, l

A family with X-linked benign familial h

A family with X-linked benign familial hematuria

✍ Kazunari Kaneko; Sachiyo Tanaka; Masafumi Hasui; Kandai Nozu; Rafal Przybyslaw K 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 141 KB