Publications by authors named "Marie-Pierre Moizard"

17Publications

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

Eur J Hum Genet 2019 Apr 25;27(4):663-668. Epub 2019 Jan 25.

Service de Génétique, Centre Hospitalier Universitaire, Tours, France.

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http://www.nature.com/articles/s41431-019-0339-z
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http://dx.doi.org/10.1038/s41431-019-0339-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460641PMC
April 2019

Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2014 Jan 8;164A(1):282-4. Epub 2013 Nov 8.

Centre Hospitalo-Universitaire - Service de Génétique, Tours, France.

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http://dx.doi.org/10.1002/ajmg.a.36199DOI Listing
January 2014

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Turk J Pediatr 2010 Sep-Oct;52(5):525-8

Department of Medical Genetics, National Institute of Health, Morocco.

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April 2011