Postnatal diagnosis

New year, new panels!

31 Jan , 2018 News from Microgenomics

New year, new panels!

Discover our new gene panels and the application of the NGS technique in Microgenomics: Hemihypertrophia panel Hipopituitarism & GH Deficit panel Klippel-Feil Syndrome panel Non Syndromic Cataract panel Syndromic Cataract panel Small Vessel Diseases panel …and more! Discover all the NGS panel list or contact us for further information.  

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Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

8 Feb , 2016 News from the world

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Am J Med Genet. 2016 Jan 11 Authors Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D. Abstract Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, […]

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

3 Sep , 2015 News from the world

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

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 emotion, learning, and memory. Copy number variations of contactin genes (CNTNs), including CNTN3, CNTN4, CNTN5, and CNTN6, have been suggested to be associated with these disorders. However, phenotypes have been […]

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

2 Mar , 2015 News from the world

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

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 has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly […]

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Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

26 Jan , 2015 News from the world

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Mol Cytogenet. 2014 Dec 19 Authors Fichera M, Barone R, Grillo L, De Grandi M, Fiore V, Morana I, Maniscalchi T, Vinci M, Amata S, Spalletta A, Sorge G, Signorelli SS. Abstract Despite the extensive use of chromosomal microarray technologies in patients with neurodevelopmental disorders has permitted the identification of an increasing number of causative submicroscopic rearrangements throughout the genome, constitutional duplications involving chromosome 1q22 have seldom […]

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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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