Florence Molinari
Necker-Enfants Malades Hospital
22 Papers
36 Citations
Florence Molinari is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Biology & Medicine. The author has an hindex of 12, co-authored 17 publications. Previous affiliations of Florence Molinari include French Institute of Health and Medical Research.
Chat about Author
Papers
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Sarah Boissel,Orit Reish,Karine Proulx,Hiroko Kawagoe-Takaki,Barbara Sedgwick,Giles S.H. Yeo,David Meyre,Christelle Golzio,Florence Molinari,Noman Kadhom,Heather C. Etchevers,Vladimir Saudek,I. Sadaf Farooqi,Philippe Froguel,Philippe Froguel,Tomas Lindahl,Stephen O'Rahilly,Arnold Munnich,Laurence Colleaux +18 more
TL;DR: It is shown that a R316Q mutation, inactivating FTO enzymatic activity, is responsible for an autosomal-recessive lethal syndrome and that a mutation in a human member of the AlkB-related dioxygenase family results in a severe polymalformation syndrome.
392
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
Frédéric Laumonnier,Sébastien Roger,P. Guérin,Florence Molinari,Ridha Mrad,Dominique Cahard,Ahlem Belhadj,Mohamed Halayem,Antonio M. Persico,Maurizio Elia,Valentino Romano,Sébastien Holbert,Christian R. Andres,H. Chaabouni,Laurence Colleaux,Jacques Constant,Jean Yves Le Guennec,Sylvain Briault +17 more
TL;DR: Results suggest a possible association between a functional defect of the BK(Ca) channel and autistic disorder and raise the hypothesis that deficits in synaptic transmission may contribute to the physiopathology of autism and mental deficiency.
183
Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation
Orianne Philippe,Marlène Rio,Astrid Carioux,Jean-Marc Plaza,Philippe Guigue,Florence Molinari,Nathalie Boddaert,Christine Bole-Feysot,Patrick Nitschke,Asma Smahi,Arnold Munnich,Laurence Colleaux +11 more
TL;DR: Evidence is provided of an NF-kappaB signaling defect in isolated MR, and a nonsense variant within exon 9 of this gene that is responsible for an undetectable level of TRAPPC9 protein in patient skin fibroblasts is revealed.
111
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.
82
Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system
TL;DR: Two human genetic diseases of the central nervous system have been related to mutations in components of extracellular proteolytic systems, and recent advances in this field are reviewed.
41