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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.
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
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.
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
Moulin P, Dufour R, Averna M, Arca M, Cefalù AB, Noto D, D'Erasmo L, Di Costanzo A, Marçais C, Alvarez-Sala Walther LA, Banach M, Borén J, Cramb R, Gouni-Berthold I, Hughes E, Johnson C, Pintó X, Reiner Ž, van Lennep JR, Soran H, Stefanutti C, Stroes E, Bruckert E. Moulin P, et al. Atherosclerosis. 2018 Aug;275:265-272. doi: 10.1016/j.atherosclerosis.2018.06.814. Epub 2018 Jun 18. Atherosclerosis. 2018. PMID: 29980054 Free article. Review.
Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score.
Moulin P, Dufour R, Averna M, Arca M, Cefalù AB, Noto D, D'Erasmo L, Di Costanzo A, Marçais C, Walther LAA, Banach M, Borén J, Cramb R, Gouni-Berthold I, Hughes E, Johnson C, Pintó X, Reiner Ž, van Lennep JR, Soran H, Stefanutti C, Stroes E, Bruckert E. Moulin P, et al. Data Brief. 2018 Oct 27;21:1334-1336. doi: 10.1016/j.dib.2018.10.125. eCollection 2018 Dec. Data Brief. 2018. PMID: 30456254 Free PMC article.
396 results