✦ LIBER ✦

Parental origin of WT1 mutations and mental retardation in WAGR syndrome

✍ Scribed by Huff, Vicki

Book ID: 109916916
Publisher: Nature Publishing Group
Year: 1994
Tongue: English
Weight: 197 KB
Volume: 8
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0994-13a

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Reply to “Parental origin of WT1 mutatio

Reply to “Parental origin of WT1 mutations and mental retardation in WAGR syndrome”

✍ Jinno, Yoshihiro; Reeve, Anthony 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 460 KB

Parental origin of de novo MECP2 mutatio

Parental origin of de novo MECP2 mutations in Rett syndrome

✍ Girard, Muriel; Couvert, Philippe; Carrié, Alain; Tardieu, Marc; Chelly, Jamel; 📂 Article 📅 2001 🏛 Nature Publishing Group 🌐 English ⚖ 139 KB

Paternal bias in parental origin of HRAS

Paternal bias in parental origin of HRAS mutations in Costello syndrome

✍ Katia Sol-Church; Deborah L. Stabley; Linda Nicholson; Iris L. Gonzalez; Karen W 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB

## Communicated by Haig H. Kazazian Costello syndrome (CS) is a rare congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We have identified 39 CS patients harboring the p.Gly12Ser mutation (NM\_005343.2:c.34 G4A), two pa

Parental origin of mutations in sporadic

Parental origin of mutations in sporadic cases of Treacher Collins syndrome

✍ Splendore, Alessandra; Jabs, Ethylin Wang; Félix, Têmis Maria; Passos-Bueno, Mar 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 109 KB

Parental origin and somatic mosaicism of

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

✍ Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

## Communicated by Michel Goossens Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence of adequate control of respiration during sleep. Here we report a PHOX2B mutational screen

WT1 mutations in Meacham syndrome sugges

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

✍ Mohnish Suri; Peter Kelehan; David O'Neill; Shantala Vadeyar; Judith Grant; S. F 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB

## Abstract Meacham syndrome is a rare sporadically occurring multiple malformation syndrome characterized by male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus and double or septate vagina, complex congenital heart defect and diaphragmatic abnormalities. We repo