Developmental delay

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

3 Sep , 2015 News from the world

J Neurodev Disord. 2015 Aug 6 Authors Hu J, Liao J, Sathanoori M, Kochmar S, Sebastian J, Yatsenko SA, Surti U. Abstract Neurodevelopmental disorders are impairments of brain function that affect […]

Molecular investigations, CGH-Array, Autism, Molecular karyotype, Postnatal diagnosis, Disturbi del comportamento, Neurodevelopmental disorders, Developmental delay

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

30 Jun , 2015 News from the world

Mol Cytogenet. 2015 Jun 25 Authors 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 Prader-Willi […]

Molecular investigations, CGH-Array, Molecular karyotype, Human cytogenetic, Postnatal diagnosis, Intellectual disability, Obesity, Developmental delay

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

2 Mar , 2015 News from the world

Clinical Genet. 2015 Feb 11 Authors 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 The Xq25 duplications syndrome […]

Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Intellectual disability, Disturbi del comportamento, Disturbo del linguaggio, Developmental delay

New publication of Microgenomics Staff

30 May , 2014 News from Microgenomics

We invite you to read an interesting paper recently published on the journal American Journal of Medical Genetics Part A. Microgenomics Staff contributed to the draft of this […]

Molecular investigations, CGH-Array, Developmental delay

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.

30 May , 2014 News from the world

Molecular investigations, CGH-Array, Developmental delay

MECP2 duplication phenotype in symptomatic females: report of three further cases.

2 Apr , 2014 News from the world

Mol Cytogenet. 2014 Jan 28 Authors Novara F1, Simonati A, Sicca F, Battini R, Fiori S, Contaldo A, Criscuolo L, Zuffardi O, Ciccone R. Abstract BACKGROUND: Xq28 duplications, including MECP2 (methyl CpG-binding protein 2; […]

Molecular investigations, CGH-Array, Intellectual disability, Publication, Developmental delay

New publication of Microgenomics Staff

27 Feb , 2014 News from Microgenomics

We invite you to read an interesting paper recently published in the journal Molecular Cytogenetics . Microgenomics Staff contributed to the draft of this publication. […]

Molecular investigations, CGH-Array, Intellectual disability, Publication, Developmental delay

New publication on HMG!

31 Jan , 2014 News from Microgenomics

Microgenomics Staff invites you to read an interesting paper, published on Human Molecular Genetics Journal, it is the result of a collaboration between several European […]

Molecular investigations, Autism, Attention deficit, Compulsive-obsessive disorders , Publication, Language delay, Developmental delay

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 Jan , 2014 News from the world

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 […]

Molecular investigations, CGH-Array, Compulsive-obsessive disorders , Language delay, Developmental delay