✦ LIBER ✦

Male pseudohermaphroditism in sibs with the α-thalassemia/mental retardation (ATR-X) syndrome

✍ Scribed by Reardon, W. ;Gibbons, R. J. ;Winter, R. M. ;Baraitser, M.

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 336 KB
Volume: 55
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320550308

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

α-thalassemia/mental retardation syndrom

α-thalassemia/mental retardation syndrome in a 45,X male

✍ Richard Kellermayer; Márta Czakó; Zsuzsanna Kiss-László; Petra Gyuris; Adrienn K 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB 👁 1 views

Self-induced vomiting in X-linked α-thal

Self-induced vomiting in X-linked α-thalassemia/mental retardation syndrome

✍ Kurosawa, Kenji ;Akatsuka, Akira ;Ochiai, Yukikatsu ;Ikeda, Jun ;Maekawa, Kihei 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 1 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

Molecular genetic screening in cytogenet

Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome

✍ Butler, Merlin G. ;Pratesi, Riccardo ;Vnencak-Jones, Cindy L. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB 👁 2 views

Normal male carriers in the fra(X) form

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin—Bell syndrome)

✍ Froster-Iskenius, U. ;McGillivray, B. C. ;Dill, F. J. ;Hall, J. G. ;Herbst, D. S 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 447 KB 👁 2 views

X-linked mild non-syndromic mental retar

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

✍ Agi K. Gedeon; John Nelson; Jozef Gécz; John C. Mulley 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 436 KB 👁 2 views