✦ LIBER ✦

Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

✍ Scribed by Robert M. Plenge; Roger A. Stevenson; Herbert A. Lubs; Charles E. Schwartz; Huntington F. Willard

Book ID: 117853936
Publisher: American Society of Human Genetics
Year: 2002
Tongue: English
Weight: 298 KB
Volume: 71
Category: Article
ISSN: 0002-9297
DOI: 10.1086/341123

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Defining the Cause of Skewed X-Chromosom

Defining the Cause of Skewed X-Chromosome Inactivation in X-Linked Mental Retardation by Use of a Mouse Model

✍ Mary R. Muers; Jacqueline A. Sharpe; David Garrick; Jacqueline Sloane-Stanley; P 📂 Article 📅 2007 🏛 American Society of Human Genetics 🌐 English ⚖ 958 KB

Skewed X-inactivation in carriers establ

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

✍ Probst, Frank J. ;Hedera, Peter ;Sclafani, Anthony M. ;Pomponi, Maria Grazia ;Ne 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 68 KB 👁 2 views

Non-skewed X-inactivation may cause ment

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

✍ Takahito Wada; Hideo Sugie; Yoshimitsu Fukushima; Shinji Saitoh 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 2 views

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (>90:10

Familial Skewed X Inactivation and X-Lin

Familial Skewed X Inactivation and X-Linked Mutations: Unbalanced X Inactivation is a Powerful Means to Ascertain X-Linked Genes That Affect Cell Proliferation

✍ Barbara R. Migeon; Camille Haisley-Royster 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 59 KB

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

Clinical features and skewed X-chromosom

Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy

✍ Hiroyuki Ishihara; Fumio Kanda; Hisahide Nishio; Kimiaki Sumino; Kazuo Chihara 📂 Article 📅 2001 🏛 Springer 🌐 English ⚖ 207 KB