Publication

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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Submicroscopic deletions at 13q32.1 cause congenital microcoria

4 May , 2015 News from the world

Submicroscopic deletions at 13q32.1 cause congenital microcoria

Am J Hum Genet. 2015 Apr 2 Authors Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K,Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M7, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E,Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM. Abstract Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate […]

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New publication of Microgenomics Staff!

30 Oct , 2014 News from Microgenomics

New publication of Microgenomics Staff!

We invite you to read an interesting paper recently published on the journal American Journal of Medical Genetics: “Periventricular nodular heterotopia in Smith-Magenis syndrome“. Microgenomics Staff contributed to the draft of this publication. ABSTRACT: Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The […]

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New publication of Microgenomics Staff!

1 Oct , 2014 News from Microgenomics

New publication of Microgenomics Staff!

We invite you to read an interesting paper recently published on the journal Genetics in Medicine: “Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity“. Microgenomics Staff contributed to the draft of this publication. ABSTRACT: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is […]

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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; OMIM 300005), have been identified in approximately 140 male patients presenting with hypotonia, severe developmental delay/intellectual disability, limited or absent speech and ambulation, and recurrent respiratory infections. Female patients with […]

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New publication of Microgenomics Staff

27 Feb , 2014 News from Microgenomics

New publication of Microgenomics Staff

We invite you to read an interesting paper recently published in the journal Molecular Cytogenetics . Microgenomics Staff contributed to the draft of this publication. This paper gives a detailed clinical description of three female subjects in which the array-CGH analysis showed a duplication in Xq28 involving MECP2 (methyl CpG -binding protein 2 , OMIM […]

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New publication on HMG!

31 Jan , 2014 News from Microgenomics

New publication on HMG!

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 centers. In this work A.C. Lionel and his colleagues have focused on the study of Copy Number Variation in 9q33.1 and rare map that involves the gene ASTN2. This gene […]

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