Vincent Delorme

Inserm U1019 - CNRS UMR 8024, Université de Lille

Affiliated withUniversité de Lille

Research Area

Immunology and Infection

Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 30	2014

Other Publications

Article	Year
Prenatal diagnosis of metatropic dwarfism. Prenatal diagnosis\| PubMed ID: 7479594	1995
[Isolated bilateral dysplasia of the hip in children]. Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie\| PubMed ID: 8547992	1995
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. Journal of medical genetics\| PubMed ID: 12624137	2003
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Human mutation\| PubMed ID: 15959873	2005
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome. Journal of human genetics\| PubMed ID: 18651097	2008
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature\| PubMed ID: 20130649	2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. European journal of medical genetics\| PubMed ID: 20599530	2010
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Molecular syndromology\| PubMed ID: 21045959	2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. European journal of medical genetics\| PubMed ID: 21094706	2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11. European journal of human genetics : EJHG\| PubMed ID: 21522184	2011
What can we learn from old microdeletion syndromes using array-CGH screening? Clinical genetics\| PubMed ID: 21722100	2012
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature\| PubMed ID: 21881559	2011
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. Journal of medical genetics\| PubMed ID: 22180640	2012
Sensorineural hearing loss in OPA1-linked disorders. Brain : a journal of neurology\| PubMed ID: 23384603	2013
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. American journal of medical genetics. Part A\| PubMed ID: 23401077	2013
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. American journal of medical genetics. Part A\| PubMed ID: 23401279	2013
Clinical and molecular spectrum of renal malformations in Kabuki syndrome. The Journal of pediatrics\| PubMed ID: 23535010	2013
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. The Journal of biological chemistry\| PubMed ID: 24108130	2013