M
M-C de Blois
Researcher at Necker-Enfants Malades Hospital
Publications - 8
Citations - 667
M-C de Blois is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Uniparental disomy & Circadian rhythm. The author has an hindex of 7, co-authored 8 publications receiving 641 citations.
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Journal ArticleDOI
Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont,Damien Sanlaville,Richard Redon,Odile Raoul,Valérie Cormier-Daire,Stanislas Lyonnet,Jeanne Amiel,M. Le Merrer,Delphine Héron,M-C de Blois,Marguerite Prieur,Michel Vekemans,Nigel P. Carter,Arnold Munnich,Laurence Colleaux,Anne Philippe +15 more
TL;DR: Results clearly show that array comparative genomic hybridisation should be considered to be an essential aspect of the genetic analysis of patients with syndromic ASD, and may allow the delineation of new contiguous gene syndromes associated with ASD.
Journal ArticleDOI
β1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome
H. De Leersnyder,Jean-Louis Bresson,M-C de Blois,J-C Souberbielle,A Mogenet,B Delhotal-Landes,F Salefranque,Arnold Munnich +7 more
TL;DR: This clinical and biological sleep phase advance supports the existence of an aberrant biological clock in Smith-Magenis syndrome.
Journal ArticleDOI
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
Marlène Rio,Florence Molinari,Solange Heuertz,Catherine Ozilou,P. Gosset,Odile Raoul,Valérie Cormier-Daire,Jeanne Amiel,Stanislas Lyonnet,M. Le Merrer,Catherine Turleau,M-C de Blois,Marguerite Prieur,S. Romana,Michel Vekemans,Arnold Munnich,Laurence Colleaux +16 more
TL;DR: Fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies.
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Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?
Valérie Cormier-Daire,Florence Molinari,Marlène Rio,Odile Raoul,M-C de Blois,S. Romana,Michel Vekemans,Arnold Munnich,Laurence Colleaux +8 more
TL;DR: A de novo deletion of chromosome 9q34 is reported on in two unrelated mentally retarded children with early onset obesity, distinctive facial features, sleep disturbances, and behavioural problems, suggesting that this deletion is a novel cause of syndromic obesity and mental retardation.
Journal ArticleDOI
Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.
G Joly,J-M Lapierre,Catherine Ozilou,P. Gosset,A Aurias,M-C de Blois,Marguerite Prieur,Odile Raoul,Laurence Colleaux,Arnold Munnich,Serge Romana,Michel Vekemans,Catherine Turleau +12 more
TL;DR: The study emphasises the value of CGH as a screening approach to detect subtle chromosome rearrangements in mentally retarded patients with dysmorphic features and a normal karyotype.