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117 results

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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: peretti n. 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
Microbe-mediated intestinal NOD2 stimulation improves linear growth of undernourished infant mice.
Schwarzer M, Gautam UK, Makki K, Lambert A, Brabec T, Joly A, Šrůtková D, Poinsot P, Novotná T, Geoffroy S, Courtin P, Hermanová PP, Matos RC, Landry JJM, Gérard C, Bulteau AL, Hudcovic T, Kozáková H, Filipp D, Chapot-Chartier MP, Šinkora M, Peretti N, Boneca IG, Chamaillard M, Vidal H, De Vadder F, Leulier F. Schwarzer M, et al. Among authors: peretti n. Science. 2023 Feb 24;379(6634):826-833. doi: 10.1126/science.ade9767. Epub 2023 Feb 23. Science. 2023. PMID: 36821686
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: peretti n. 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
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. Among authors: peretti n. 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.
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: peretti n. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease.
Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, Di Filippo M, Laveille C, Michalski MC, Poinsot P, Caussy C, Sassolas A, Moulin P, Reboul E, Charriere S, Levy E, Lachaux A, Peretti N. Cuerq C, et al. Among authors: peretti n. J Lipid Res. 2018 Sep;59(9):1640-1648. doi: 10.1194/jlr.M085043. Epub 2018 Jul 18. J Lipid Res. 2018. PMID: 30021760 Free PMC article.
117 results