Marie-Laure VUILLAUME

Marie-Laure VUILLAUME

UNVERIFIED PROFILE

Are you Marie-Laure VUILLAUME?   Register this Author

Register author
Marie-Laure VUILLAUME

Marie-Laure VUILLAUME

Publications by authors named "Marie-Laure VUILLAUME"

Are you Marie-Laure VUILLAUME?   Register this Author

18Publications

485Reads

36Profile Views

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.

View Article

Download full-text PDF

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

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Eur J Med Genet 2017 Nov 12;60(11):605-609. Epub 2017 Aug 12.

Department of Pathology, Bordeaux University Hospital, Pellegrin Hospital, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.08.012DOI Listing
November 2017

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Clin Dysmorphol 2017 Oct;26(4):231-234

aDepartment of Medical Genetics, CHU Bordeaux bCaribbean Reference Center for rare neuromuscular and neurologic diseases (CeRCa), CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex cMultidisciplinary Center for Prenatal Diagnosis (CPDP) - Mother and Children's Hospital - CHU Martinique, route de Chateauboeuf, BP 632 97200 Fort-de-France Cédex dINSERM U1211, University of Bordeaux, 33076 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000192DOI Listing
October 2017

SCA27 is a cause of early-onset ataxia and developmental delay.

Eur J Paediatr Neurol 2015 Mar 5;19(2):271-3. Epub 2014 Dec 5.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France; Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576 Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.11.013DOI Listing
March 2015

Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.

Mol Genet Metab 2013 Sep-Oct;110(1-2):90-7. Epub 2013 Jul 20.

CHU Bordeaux, Service de Génétique Médicale, Place Amélie Raba Léon, Bordeaux, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.07.013DOI Listing
March 2014