Human cytogenetic

Our new publication!

10 Nov , 2015 News from Microgenomics

We invite you to read our latest publications on leading scientific journal. Microgenomics Staff contributed to the draft of these publications. “Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia” British Journal of Haematology, 6 Sep 2015 Read the publication on PubMed! “Refinement of the critical 2p25.3 deletion region: the role of MYT1L […]

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

30 Jun , 2015 News from the world

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

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 syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS)….read more!

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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

2 Dec , 2014 News from the world

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Am J Med Genet A. – 2014 Nov 25 Authors Nizon M1, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S,Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S,Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V. Abstract Array comparative genomic hybridization […]

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Microgenomics and CEQA Quality Control

15 Oct , 2014 News from Microgenomics

Microgenomics and CEQA Quality Control

As in previous years, in 2014 the Microgenomics Laboratory take part in the External Quality Control program for the Array-CGH analysis (Scheme CEQA Microarray) promoted by CEQA, the Cytogenetic European Quality Assessment. The Scheme CEQA Microarray aims to verify the quality of the analysis according to European standard and Microgenomics  laboratory has achieved excellent results and won the assessment “satisfactory […]

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Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

10 Jun , 2014 News from the world

Cytogenetic Nomenclature: Changes in the ISCN 2013 Compared to the 2009 Edition.

Cytogenet Genome Res. 2013 Jun 28. Authors Simons A1, Shaffer LG, Hastings RJ. Abstract The latest edition of the International System for Human Cytogenetic Nomenclature, ISCN 2013, has recently been published following a thorough revision of the 2009 issue and the incorporation of suggestions from the community by the current standing committee. This review will highlight the multiple […]

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