Sylvain Briault

Sylvain Briault

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Sylvain Briault

Sylvain Briault

Publications by authors named "Sylvain Briault"

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32Publications

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Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders.

Hum Mol Genet 2017 01;26(2):367-382

Stem Cell and Regenerative Biology, Genome Institute of Singapore, 60 Biopolis St, Singapore.

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http://dx.doi.org/10.1093/hmg/ddw393DOI Listing
January 2017

Visual sensorial impairments in neurodevelopmental disorders: evidence for a retinal phenotype in Fragile X Syndrome.

PLoS One 2014 25;9(8):e105996. Epub 2014 Aug 25.

UMR7355, CNRS, Orléans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orléans, Orléans, France; Genetic Department, Regional Hospital, Orléans, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0105996PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143372PMC
November 2015

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.

Am J Med Genet A 2013 Dec 16;161A(12):3072-7. Epub 2013 Aug 16.

UMR7355, CNRS, Orleans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orleans, Orleans, France; Genetic Department, Regional Hospital, Orleans, France.

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http://dx.doi.org/10.1002/ajmg.a.36170DOI Listing
December 2013

Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.

Eur J Med Genet 2013 Nov 4;56(11):635-41. Epub 2013 Sep 4.

UMR7355, CNRS, Orleans, France; Experimental and Molecular Immunology and Neurogenetics, University of Orleans, 3b rue de la Férollerie, 45071 Orleans Cedex 2, France; Genetic Department, Regional Hospital, 14 Avenue de l'Hôpital, 45100 Orleans, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.07.007DOI Listing
November 2013

FG syndrome: the FGS2 locus revisited.

Am J Med Genet A 2012 Jun 23;158A(6):1489-92. Epub 2012 Apr 23.

Molecular and Experimental Immunology and Neurogenetics, UMR7355, University of orléans, 3b Rue de Férollerie, Orléans La Source, Cedex 2, France.

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http://dx.doi.org/10.1002/ajmg.a.35322DOI Listing
June 2012

Exploring the 7p22.1 chromosome as a candidate region for autism.

J Biomed Biotechnol 2010 18;2010:423894. Epub 2010 Apr 18.

Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, 15 rue Djebel Lakhdhar La Rabta, 1007 Tunis, Tunisia.

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http://www.hindawi.com/journals/bmri/2010/423894/
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http://dx.doi.org/10.1155/2010/423894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856063PMC
July 2010

The creatine transporter gene paralogous at 16p11.2 is expressed in human brain.

Comp Funct Genomics 2008 :609684

Human Genetics Laboratory, Faculty of Medicine of Tunis, 15 rue Djebel Lakdhar La Rabta, Tunis 1007, Tunisia.

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http://dx.doi.org/10.1155/2008/609684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396218PMC
June 2010

De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder.

J Biomed Biotechnol 2008 ;2008:231904

Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, 15 rue Djebel Lakhdhar La Rabta, Tunis 1007, Tunisia.

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http://dx.doi.org/10.1155/2008/231904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2373955PMC
July 2008

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.

Eur J Hum Genet 2003 Apr;11(4):352-6

Service de Génétique et INSERM U316, Hôpital Bretonneau, 2 boulevard Tonnellé, 37044 Tours Cedex 1, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200959DOI Listing
April 2003

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Science 2002 Nov;298(5599):1779-81

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, et Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1126/science.1076521DOI Listing
November 2002