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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.
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?
Ghaleb Y, Elbitar S, El Khoury P, Bruckert E, Carreau V, Carrié A, Moulin P, Di-Filippo M, Charriere S, Iliozer H, Farnier M, Luc G, Rabès JP, Boileau C, Abifadel M, Varret M. Ghaleb Y, et al. Among authors: moulin p. Eur J Hum Genet. 2018 Apr;26(4):570-578. doi: 10.1038/s41431-017-0078-y. Epub 2018 Jan 26. Eur J Hum Genet. 2018. PMID: 29374275 Free PMC article.
SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia.
Gallo A, Charriere S, Vimont A, Chapman MJ, Angoulvant D, Boccara F, Cariou B, Carreau V, Carrié A, Bruckert E, Béliard S; French REgistry of Familial hypERCHOLesterolemia (REFERCHOL) investigators. Gallo A, et al. Atherosclerosis. 2020 Aug;306:41-49. doi: 10.1016/j.atherosclerosis.2020.06.011. Epub 2020 Jul 6. Atherosclerosis. 2020. PMID: 32688103 Free article.
Lipoprotein(a): Pathophysiology, measurement, indication and treatment in cardiovascular disease. A consensus statement from the Nouvelle Société Francophone d'Athérosclérose (NSFA).
Durlach V, Bonnefont-Rousselot D, Boccara F, Varret M, Di-Filippo Charcosset M, Cariou B, Valero R, Charriere S, Farnier M, Morange PE, Meilhac O, Lambert G, Moulin P, Gillery P, Beliard-Lasserre S, Bruckert E, Carrié A, Ferrières J, Collet X, Chapman MJ, Anglés-Cano E. Durlach V, et al. Among authors: moulin p. Arch Cardiovasc Dis. 2021 Dec;114(12):828-847. doi: 10.1016/j.acvd.2021.10.009. Epub 2021 Nov 25. Arch Cardiovasc Dis. 2021. PMID: 34840125 Free article.
[No title available]
[No authors listed] [No authors listed] PMID: 34932804
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.
395 results