Publications by authors named "Christophe Marcais"

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Involvement of a homozygous exon 6 deletion of LMF1 gene in intermittent severe hypertriglyceridemia.
Marine Serveaux Dancer, Oriane Marmontel, Anne-Sophie Wozny, Christophe Marcais, Muriel Mahl

J Clin Lipidol· August 2021

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Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Oriane Marmontel, Pierre Antoine Rollat-Farnier, Anne-Sophie Wozny, Sybil Charrière, Xavier Vanhoye

Clin Genet· December 2020

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New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
Marine Serveaux Dancer, Mathilde Di Filippo, Oriane Marmontel, René Valéro, Maria Del Carmen Piombo Rivarola

J Clin Lipidol· October 2019

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Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score.
Philippe Moulin, Robert Dufour, Maurizio Averna, Marcello Arca, Angelo B Cefalù

Data Brief· December 2018

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Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.
Charlotte Cuerq, Emilie Henin, Lioara Restier, Emilie Blond, Jocelyne Drai

J Lipid Res· September 2018

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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
Philippe Moulin, Robert Dufour, Maurizio Averna, Marcello Arca, Angelo B Cefalù

Atherosclerosis· August 2018

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Alterations in plasma triglycerides lipolysis in patients with history of multifactorial chylomicronemia.
Oriane Marmontel, Mathilde Di Filippo, Christophe Marcais, Séverine Nony, Marjorie Dumoux

Atherosclerosis· October 2017

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Circulating Klotho Associates With Cardiovascular Morbidity and Mortality During Hemodialysis.
Christophe Marçais, Delphine Maucort-Boulch, Jocelyne Drai, Emmanuelle Dantony, Marie-Christine Carlier

J Clin Endocrinol Metab· September 2017

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Lack of evidence for a liver or intestinal miRNA regulation involved in the hypertriglyceridemic effect of APOC3 3'UTR variant SstI.
Marine Dancer, Cyrielle Caussy, Mathilde Di Filippo, Philippe Moulin, Christophe Marçais

Atherosclerosis· December 2016

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Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter.
Cyrielle Caussy, Sybil Charrière, Aline Meirhaeghe, Jean Dallongeville, Etienne Lefai

Atherosclerosis· March 2016

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Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Mathilde Di Filippo, Christophe Marçais, Sybil Charrière, Oriane Marmontel, Martine Broyer

PLoS One· September 2015

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Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Mathilde Di Filippo, Christophe Marçais, Sybil Charrière, Oriane Marmontel, Martine Broyer

PLoS One· June 2015

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An APOA5 3' UTR variant associated with plasma triglycerides triggers APOA5 downregulation by creating a functional miR-485-5p binding site.
Cyrielle Caussy, Sybil Charrière, Christophe Marçais, Mathilde Di Filippo, Agnès Sassolas

Am J Hum Genet· January 2014

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GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.
Sybil Charrière, Noël Peretti, Sophie Bernard, Mathilde Di Filippo, Agnès Sassolas

J Clin Endocrinol Metab· October 2011

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Quantitative loss of heterozygosity analysis for urothelial carcinoma detection and prognosis.
Delphine Collin-Chavagnac, Christophe Marçais, Stephane Billon, Françoise Descotes, Eric Piaton

Urology· August 2010

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Prevalence and function of anti-lipoprotein lipase auto-antibodies in type V hyperchylomicronemia.
Myriam Moret, Valérie Pruneta-Deloche, Agnès Sassolas, Christophe Marcais, Philippe Moulin

Atherosclerosis· February 2010

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Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients.
Sybil Charriere, Sophie Bernard, Mahdi Aqallal, Micheline Merlin, Stéphane Billon, Christophe Marcais

Clin Chim Acta· August 2008

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Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment.
Christophe Marçais, Bruno Verges, Sybil Charrière, Valérie Pruneta, Micheline Merlin

J Clin Invest· October 2005

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Combination of circulating antilipoprotein lipase (Anti-LPL) antibody and heterozygous S172 fsX179 mutation of LPL gene leading to chronic hyperchylomicronemia.
Valérie Pruneta-Deloche, Christophe Marçais, Laurence Perrot, Agnès Sassolas, Mireille Delay

J Clin Endocrinol Metab· July 2005

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