Publications by authors named "Vincent Cantagrel"

23Publications

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Neurogenetics 2016 Jan 19;17(1):79-82. Epub 2015 Sep 19.

Imagine Institute, Paris Descartes - Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1007/s10048-015-0459-8DOI Listing
January 2016

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Am J Hum Genet 2012 Apr 22;90(4):685-8. Epub 2012 Mar 22.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322218PMC
April 2012

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.

J Inherit Metab Dis 2011 Aug 8;34(4):859-67. Epub 2011 Mar 8.

Department of Neurosciences, Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.

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http://link.springer.com/10.1007/s10545-011-9301-0
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http://dx.doi.org/10.1007/s10545-011-9301-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137772PMC
August 2011

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

Gene Expr Patterns 2009 Sep 11;9(6):423-9. Epub 2009 Jun 11.

INSERM, U910, Faculté de Médecine de La Timone, Marseille, France.

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http://dx.doi.org/10.1016/j.gep.2009.06.001DOI Listing
September 2009