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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charrière S, Farnier M, Yelnick C, Carreau V, Ferrières J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lütjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabès JP, Boileau C, Abifadel M, Varret M. Ghaleb Y, et al. Among authors: moulin p. Metabolites. 2022 Mar 18;12(3):262. doi: 10.3390/metabo12030262. Metabolites. 2022. PMID: 35323704 Free PMC article.
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M, Varret M, Rabès JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derré A, Villéger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C. Abifadel M, et al. Among authors: moulin p. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697
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. Among authors: moulin p. 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. Among authors: moulin p. 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. Among authors: moulin p. Atherosclerosis. 2016 Mar;246:280-6. doi: 10.1016/j.atherosclerosis.2016.01.010. Epub 2016 Jan 11. Atherosclerosis. 2016. PMID: 26820803
396 results