✦ LIBER ✦

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation

✍ Scribed by Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen…

Book ID: 120679309
Publisher: BioMed Central
Year: 2013
Tongue: English
Weight: 333 KB
Volume: 14
Category: Article
ISSN: 1471-2350
DOI: 10.1186/1471-2350-14-49

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Skewed X-inactivation in a tumor tissue

Skewed X-inactivation in a tumor tissue from a female patient with leiomyomatosis

✍ Kishino, T. ;Jinno, Y. ;Niikawa, N. ;Hashida, T. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB

Deletions in Xq26.3–q27.3 including FMR1

Deletions in Xq26.3–q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

✍ D. J. Wolff; Karen M. Gustashaw; Vickie Zurcher; Lara Ko; Wendy White; Lester We 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 140 KB

A novel deletion mutation in the arginin

A novel deletion mutation in the arginine vasopressin receptor 2 gene and skewed X chromosome inactivation in a female patient with congenital nephrogenic diabetes insipidus

✍ Kinoshita, K.; Miura, Y.; Nagasaki, H.; Murase, T.; Bando, Y.; Oiso, Y. 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 88 KB

Early cerebral manifestations in a young

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

✍ MG Bouwman; SM Rombach; GE Linthorst; BJHM Poorthuis; RH Lekanne Deprez; JMFG Ae 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 515 KB

A new mutation in exon 7 ofNEMOgene: lat

A new mutation in exon 7 ofNEMOgene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency

✍ Natalia Martinez-Pomar; Ivan Munoz-Saa; Damian Heine-Suner; Ana Martin; Asma Sma 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 357 KB

A novel filamin A D203Y mutation in a fe

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

✍ Alberto Hidalgo-Bravo; Ericka N. Pompa-Mera; Susana Kofman-Alfaro; Cesar R. Gonz 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views