✦ LIBER ✦

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

✍ Scribed by Peter Wieacker; Jürgen Zimmer; Hans-Hilger Ropers

Book ID: 115089231
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 418 KB
Volume: 28
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1985.tb00392.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Craniofacioskeletal syndrome: An X-linke

Craniofacioskeletal syndrome: An X-linked dominant disorder with early lethality in males

✍ Roger E. Stevenson; Cam K. Brasington; Cindy Skinner; Richard J. Simensen; J. Ed 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 241 KB 👁 2 views

X-linked or autosomal dominant, lethal i

X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (Osteodysplasty) syndrome? A reappraisal

✍ Gorlin, Robert J. ;Knier, Julie ;Opitz, John M. 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 2 views

Oculo-facio-cardio-dental syndrome: Skew

Oculo-facio-cardio-dental syndrome: Skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance

✍ Hedera, Peter ;Gorski, Jerome L. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 2 views

Inheritance of skewed X chromosome inact

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

✍ Ørstavik, Karen Helene; Elise Ørstavik, Ragnhild; Eiklid, Kristin; Tranebjærg, L 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 3 views

A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome

Bilateral periventricular heterotopias i

Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males

✍ Marion Gérard-Blanluet; Volney Sheen; Kalotina Machinis; Jason Neal; Kira Apse; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 243 KB 👁 2 views

X-linked recessive inheritance of an oro

X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males

✍ Matthew Edwards; Des Mulcahy; Gillian Turner 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 716 KB