Ritardo dello sviluppo

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

3 set , 2015 News dal Mondo

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

J Neurodev Disord. 2015 Aug 6 Autori Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, Surti U. Abstract In questo lavoro Jie Hu e collaboratori, analizzando una […]

, , , , , , ,

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

30 giu , 2015 News dal Mondo

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Mol Cytogenet. 2015 Jun 25 Autori Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clemence Ragon, Julien Thevenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor,Christel Thauvin-Robinet, Salima El Chehadeh, and Patrick Callier. Abstract In […]

, , , , , , ,

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

2 mar , 2015 News dal Mondo

Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy

Clinical Genet. 2015 Feb 11 Autori Leroy C, Jacquemont ML, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C,Malan V. Abstract In questo lavoro Leroy […]

, , , , , , ,

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

30 gen , 2014 News dal Mondo

Hum Mol Genet. 2014 Gen 14. Authors Lionel AC1, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B,Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White […]

, , , ,