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Page 1
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network; Boileau C, Varret M, Rabès JP. Marduel M, et al. Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348. Hum Mutat. 2010. PMID: 20809525 Free PMC article.
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. PLoS One. 2014 May 2;9(5):e96482. doi: 10.1371/journal.pone.0096482. eCollection 2014. PLoS One. 2014. PMID: 24788417 Free PMC article.
Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
Di Filippo M, Moulin P, Roy P, Samson-Bouma ME, Collardeau-Frachon S, Chebel-Dumont S, Peretti N, Dumortier J, Zoulim F, Fontanges T, Parini R, Rigoldi M, Furlan F, Mancini G, Bonnefont-Rousselot D, Bruckert E, Schmitz J, Scoazec JY, Charrière S, Villar-Fimbel S, Gottrand F, Dubern B, Doummar D, Joly F, Liard-Meillon ME, Lachaux A, Sassolas A. Di Filippo M, et al. J Hepatol. 2014 Oct;61(4):891-902. doi: 10.1016/j.jhep.2014.05.023. Epub 2014 May 16. J Hepatol. 2014. PMID: 24842304
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. Atherosclerosis. 2016 Mar;246:280-6. doi: 10.1016/j.atherosclerosis.2016.01.010. Epub 2016 Jan 11. Atherosclerosis. 2016. PMID: 26820803
Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia.
Cuerq C, Restier L, Drai J, Blond E, Roux A, Charriere S, Michalski MC, Di Filippo M, Levy E, Lachaux A, Peretti N. Cuerq C, et al. Orphanet J Rare Dis. 2016 Aug 12;11(1):114. doi: 10.1186/s13023-016-0498-8. Orphanet J Rare Dis. 2016. PMID: 27520363 Free PMC article.
299 results