✦ LIBER ✦

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

✍ Scribed by Courcet, J.-B.; Faivre, L.; Malzac, P.; Masurel-Paulet, A.; Lopez, E.; Callier, P.; Lambert, L.; Lemesle, M.; Thevenon, J.; Gigot, N.; Duplomb, L.; Ragon, C.; Marle, N.; Mosca-Boidron, A.-L.; Huet, F.; Philippe, C.; Moncla, A.; Thauvin-Robinet, C.

Book ID: 125332443
Publisher: BMJ Publishing Group
Year: 2012
Tongue: English
Weight: 280 KB
Volume: 49
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmedgenet-2012-101251

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Truncation of the Down Syndrome Candidat

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

✍ Rikke S. Møller; Sabine Kübart; Maria Hoeltzenbein; Babett Heye; Ida Vogel; Chri 📂 Article 📅 2008 🏛 American Society of Human Genetics 🌐 English ⚖ 687 KB

Haploinsufficiency of MBD5 associated wi

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

✍ Williams, Stephen R; Mullegama, Sureni V; Rosenfeld, Jill A; Dagli, Aditi I; Hat 📂 Article 📅 2009 🏛 Nature Publishing Group 🌐 English ⚖ 448 KB

A newly recognized 13q12.3 microdeletion

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

✍ Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Ma 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 1013 KB

6p21.3 microdeletion involving the SYNGA

6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment

✍ Writzl, Karin; Knegt, Alida C. 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB

Large deletions encompassing the TCOF1 a

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability

✍ Vincent, Marie; Collet, Corinne; Verloes, Alain; Lambert, Laetitia; Herlin, Chri 📂 Article 📅 2013 🏛 Nature Publishing Group 🌐 English ⚖ 793 KB

Chromosomal loss of 3q26.3-3q26.32, invo

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability

✍ Alison Millson; Danielle LaGrave; Mary J.H. Willis; Leslie R. Rowe; Elaine Lyon; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB 👁 1 views

## Abstract Neuroligin 1 (__NLGN1__) is one of five members of the neuroligin gene family and may represent a candidate gene for neurological disorders, as members of this family are involved in formation and remodeling of central nervous system synapses. __NLGN1__ is expressed predominantly in the