✦ LIBER ✦

A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly

✍ Scribed by Pichon, Bruno; Vankerckhove, Sophie; Bourrouillou, Georges; Duprez, Laurence; Abramowicz, Marc J

Book ID: 110025577
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 86 KB
Volume: 12
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201169

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mandibulofacial dysostosis in a patient

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster

✍ David A. Stevenson; Steven B. Bleyl; Teresa Maxwell; Arthur R. Brothman; Sarah T 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 222 KB 👁 1 views

A de novo balanced translocation breakpo

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

✍ Xin-Li Huang; Ying S. Zou; Tom A. Maher; Stephanie Newton; Jeff M. Milunsky 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 1 views

Balanced translocation in a patient with

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

✍ Rikke S. Møller; Lizette M. Schneider; Christian P. Hansen; Merete Bugge; Reinha 📂 Article 📅 2008 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 122 KB

Mapping the breakpoint of a constitution

Mapping the breakpoint of a constitutional translocation on chromosome 22 in a patient with NF2

✍ Eiko Arai; Takashi Tokino; Takashi Imai; Johji Inazawa; Tatsuro Ikeuchi; Akira T 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB 👁 1 views

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by development of bilateral acoustic neurinomas and increased incidence nf meningiomas. Frequent losses of I allele of chromosome 22 in neurinomas and meningiomas has indicated that the gene responsible for NF2 functions

A Complex Ph1 Translocation in a Patient

A Complex Ph1 Translocation in a Patient with Primary Thrombocythaemia

✍ P. H. Fitzgerald; Christine McEwan; Jan Fraser; M. E.J. Beard 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 586 KB

Identification of a new translocation th

Identification of a new translocation that disrupts theRUNX1gene in a patient with de novo acute myeloid leukemia

✍ Antonio Roberto Lucena-Araujo, Lorena Lobo de Figueiredo-Pontes, Fábio Morato de 📂 Article 📅 2011 🏛 Springer US 🌐 English ⚖ 261 KB