M
Mathilde Varret
Researcher at Paris Descartes University
Publications - 16
Citations - 395
Mathilde Varret is an academic researcher from Paris Descartes University. The author has contributed to research in topics: Familial hypercholesterolemia & LDL receptor. The author has an hindex of 10, co-authored 16 publications receiving 380 citations.
Papers
More filters
Journal ArticleDOI
LDLR Database (second edition): New additions to the database and the software, and results of the first molecular analysis
Mathilde Varret,Jean-Pierre Rabès,Rochelle Thiart,Maritha J. Kotze,Heike Baron,Ana Cenarro,Olivier S. Descamps,M. Ebhardt,Jean-Claude Hondelijn,Gert M. Kostner,Yasuko Miyake,Miguel Pocovi,Hartmut H.-J. Schmidt,Helena Schmidt,Herbert Schuster,Manfred Stuhrmann,Taku Yamamura,Claudine Junien,Christophe Béroud,Catherine Boileau +19 more
TL;DR: The second version of the LDLR database contains 140 new entries and the software has been modified to accommodate four new routines, and the analysis of the updated data gives the following informations.
Journal ArticleDOI
Software and database for the analysis of mutations in the human LDL receptor gene
Mathilde Varret,Jean-Pierre Rabès,Gwenaëlle Collod-Béroud,Claudine Junien,Catherine Boileau,Christophe Béroud +5 more
TL;DR: To facilitate the mutationalAnalysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database have been created.
Journal ArticleDOI
A PCSK9 variant and familial combined hyperlipidaemia
Marianne Abifadel,L. Bernier,G. Dubuc,Gregory Nuel,Jean-Pierre Rabès,J. Bonneau,A. Marques,M. Marduel,Martine Devillers,Arnold Munnich,D. Erlich,Mathilde Varret,M. Roy,J. Davignon,Catherine Boileau +14 more
TL;DR: PCSK9 variants might contribute to FCHL phenotype and are to be taken into consideration in the study of this complex and multigenic disease with other genes implicated in dyslipidaemia.
Journal ArticleDOI
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.
Jean-Pierre Rabès,Mathilde Varret,B. Saint-Jore,D. Erlich,Guillaume Jondeau,Michel Krempf,P Giraudet,Claudine Junien,Catherine Boileau,Catherine Boileau +9 more
TL;DR: An original method to detect both mutations simultaneously, based upon PCR‐mediated, site‐directed mutagenesis and double restriction of a unique PCR product is reported.
Journal ArticleDOI
A fourth locus for Autosomal Dominant Hypercholesterolemia maps at 16q22.1
Alice Marques-Pinheiro,M. Marduel,Jean-Pierre Rabès,Martine Devillers,Ludovic Villéger,Delphine Allard,Jean Weissenbach,Maryse Guerin,Yassine Zair,D. Erlich,Claudine Junien,Arnold Munnich,Michel Krempf,Marianne Abifadel,Marianne Abifadel,Jean-Philippe Jais,Catherine Boileau,Mathilde Varret +17 more
TL;DR: The results show the existence of other ADH genes as nine families were neither linked to LDLR, APOB, and PCSK9 genes nor to the new HCHOLA4 locus.