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New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.
Serveaux Dancer M, Di Filippo M, Marmontel O, Valéro R, Piombo Rivarola MDC, Peretti N, Caussy C, Krempf M, Vergès B, Mahl M, Marçais C, Moulin P, Charrière S. Serveaux Dancer M, et al. Among authors: marcais c. J Clin Lipidol. 2018 Sep-Oct;12(5):1244-1252. doi: 10.1016/j.jacl.2018.06.018. Epub 2018 Jul 7. J Clin Lipidol. 2018. PMID: 30037590
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, Tauveron I, Bardel C, Millat G, Peretti N, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: marcais c. Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4. Clin Genet. 2020. PMID: 33111339
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: marcais c. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M, Marçais C, Charrière S, Marmontel O, Broyer M, Delay M, Merlin M, Nollace A, Valéro R, Lagarde M, Pruneta-Deloche V, Moulin P, Sassolas A. Di Filippo M, et al. Among authors: marcais c. PLoS One. 2014 May 2;9(5):e96482. doi: 10.1371/journal.pone.0096482. eCollection 2014. PLoS One. 2014. PMID: 24788417 Free PMC article.
Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter.
Caussy C, Charrière S, Meirhaeghe A, Dallongeville J, Lefai E, Rome S, Cuerq C, Euthine V, Delay M, Marmontel O, Di Filippo M, Lagarde M, Moulin P, Marçais C. Caussy C, et al. Among authors: marcais c. Atherosclerosis. 2016 Mar;246:280-6. doi: 10.1016/j.atherosclerosis.2016.01.010. Epub 2016 Jan 11. Atherosclerosis. 2016. PMID: 26820803
34 results