Marie-Claire Vincent

Marie-Claire Vincent

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Marie-Claire Vincent

Marie-Claire Vincent

Publications by authors named "Marie-Claire Vincent"

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15Publications

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Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29.

Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.004DOI Listing
August 2011

V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl.

Pediatr Dermatol 2007 Sep-Oct;24(5):551-4

Department of Dermatology, Hospital del Mar, IMAS, Barcelona, Spain.

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http://doi.wiley.com/10.1111/j.1525-1470.2007.00516.x
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http://dx.doi.org/10.1111/j.1525-1470.2007.00516.xDOI Listing
December 2007

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Am J Med Genet A 2005 Jan;132A(2):175-80

Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.30409DOI Listing
January 2005

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

Eur J Hum Genet 2003 Feb;11(2):163-9

Service de Génétique Médicale, Hôpital Purpan, Pavillon Lefebvre, 1, place Baylac, 31059 Toulouse cedex, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200940DOI Listing
February 2003