Publications by authors named "Gaelle Vieville"

13Publications

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Am J Med Genet A 2016 Feb 6;170A(2):498-503. Epub 2015 Nov 6.

Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.37450DOI Listing
February 2016

Array-CGH in children with mild intellectual disability: a population-based study.

Eur J Pediatr 2015 Jan 3;174(1):75-83. Epub 2014 Jul 3.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, 38700, Grenoble, France,

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http://dx.doi.org/10.1007/s00431-014-2367-6DOI Listing
January 2015

7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.

Am J Med Genet A 2014 Aug 8;164A(8):2133-5. Epub 2014 Apr 8.

Département de Biochimie, Biochimie et Génétique Moléculaire, Toxicologie et Pharmacologie, CHU Grenoble, Grenoble, France; Université Joseph Fourier, Grenoble, France; Grenoble Institut des Neurosciences, Unité INSERM U836, Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.36566DOI Listing
August 2014

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Am J Med Genet A 2014 Jun 19;164A(6):1530-6. Epub 2014 Mar 19.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.

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http://doi.wiley.com/10.1002/ajmg.a.36467
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http://dx.doi.org/10.1002/ajmg.a.36467DOI Listing
June 2014

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.

Eur J Hum Genet 2013 Oct 23;21(10):1079-84. Epub 2013 Jan 23.

1] Chronic Granulomatous Disease Diagnosis and Research Centre, Therex-TIMC/Imag, UMR CNRS 5525, UJF-Grenoble 1, Grenoble, France [2] Pôle Biologie, CHU de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1038/ejhg.2012.310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778347PMC
October 2013

17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.

Am J Med Genet A 2012 Oct 17;158A(10):2564-70. Epub 2012 Aug 17.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, France.

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http://dx.doi.org/10.1002/ajmg.a.35553DOI Listing
October 2012

Population genetic structure of Anopheles gambiae and Anopheles arabiensis in Niger.

J Med Entomol 2010 May;47(3):355-66

Centre de Recherche Médicale et Sanitaire, Institut Pasteur International Network, Niamey, Niger.

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http://dx.doi.org/10.1603/me09173DOI Listing
May 2010