Michele Mathieu

Michele Mathieu

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Michele Mathieu

Michele Mathieu

Publications by authors named "Michele Mathieu"

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18Publications

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Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Ann Endocrinol (Paris) 2015 Oct 27;76(5):629-34. Epub 2015 Oct 27.

EA 4666, département de génétique, université de Picardie-Jules-Verne, CHU d'Amiens, 80054 Amiens, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2015.02.002DOI Listing
October 2015

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Hum Mutat 2012 Jan 31;33(1):180-8. Epub 2011 Oct 31.

Oncologie et Génétique Moléculaires, Service de Biochimie et Biologie Moléculaire HMNO, CHRU de Lille, France.

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http://dx.doi.org/10.1002/humu.21617DOI Listing
January 2012

[A case of ectrodactyly: a private pilot with a single finger on each hand].

Bull Acad Natl Med 2009 Mar;193(3):709-12

Bibliotèque anesthésie-réanimation CHU Nord, 80054 Amiens.

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March 2009

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?

Eur J Med Genet 2008 Sep-Oct;51(5):436-43. Epub 2008 May 28.

Clinical Genetic Unit, University Hospital, Amiens, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.05.004DOI Listing
November 2008

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Eur J Med Genet 2006 Jul-Aug;49(4):313-22. Epub 2005 Dec 20.

Laboratoire de Génétique, EA 3441, CHU Brabois, avenue du Morvan, 54511 Vandoeuvre-les-Nancy cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2005.11.002DOI Listing
September 2006

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

Clin Dysmorphol 2003 Oct;12(4):237-40

Clinical Genetic Unit, Department of Paediatrics, University Hospital, Amiens, France.

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http://dx.doi.org/10.1097/01.mcd.0000086852.79917.e3DOI Listing
October 2003