Rabès JP - Search Results

1

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: rabes jp. 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.

2

The UMD-LDLR database: additions to the software and 490 new entries to the database.

Villéger L, Abifadel M, Allard D, Rabès JP, Thiart R, Kotze MJ, Béroud C, Junien C, Boileau C, Varret M. Villéger L, et al. Among authors: rabes jp. Hum Mutat. 2002 Aug;20(2):81-7. doi: 10.1002/humu.10102. Hum Mutat. 2002. PMID: 12124988 Review.

3

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

Amsellem S, Briffaut D, Carrié A, Rabès JP, Girardet JP, Fredenrich A, Moulin P, Krempf M, Reznik Y, Vialettes B, de Gennes JL, Brukert E, Benlian P. Amsellem S, et al. Among authors: rabes jp. Hum Genet. 2002 Dec;111(6):501-10. doi: 10.1007/s00439-002-0813-4. Epub 2002 Sep 13. Hum Genet. 2002. PMID: 12436241

4

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: rabes jp. Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161. Nat Genet. 2003. PMID: 12730697

5

Familial hypercholesterolemia in Morocco: first report of mutations in the LDL receptor gene.

El Messal M, Aït Chihab K, Chater R, Vallvé JC, Bennis F, Hafidi A, Ribalta J, Varret M, Loutfi M, Rabès JP, Kettani A, Boileau C, Masana L, Adlouni A. El Messal M, et al. Among authors: rabes jp. J Hum Genet. 2003;48(4):199-203. doi: 10.1007/s10038-003-0010-x. Epub 2003 Mar 18. J Hum Genet. 2003. PMID: 12730724

6

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.

Allard D, Amsellem S, Abifadel M, Trillard M, Devillers M, Luc G, Krempf M, Reznik Y, Girardet JP, Fredenrich A, Junien C, Varret M, Boileau C, Benlian P, Rabès JP. Allard D, et al. Among authors: rabes jp. Hum Mutat. 2005 Nov;26(5):497. doi: 10.1002/humu.9383. Hum Mutat. 2005. PMID: 16211558

7

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis].

Abifadel M, Rabès JP, Boileau C, Varret M. Abifadel M, et al. Among authors: rabes jp. Med Sci (Paris). 2006 Nov;22(11):916-8. doi: 10.1051/medsci/20062211916. Med Sci (Paris). 2006. PMID: 17101087 Free article. French. No abstract available.

8

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Abifadel M, Rabès JP, Devillers M, Munnich A, Erlich D, Junien C, Varret M, Boileau C. Abifadel M, et al. Among authors: rabes jp. Hum Mutat. 2009 Apr;30(4):520-9. doi: 10.1002/humu.20882. Hum Mutat. 2009. PMID: 19191301 Review.

9

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

Abifadel M, Rabès JP, Jambart S, Halaby G, Gannagé-Yared MH, Sarkis A, Beaino G, Varret M, Salem N, Corbani S, Aydénian H, Junien C, Munnich A, Boileau C. Abifadel M, et al. Among authors: rabes jp. Hum Mutat. 2009 Jul;30(7):E682-91. doi: 10.1002/humu.21002. Hum Mutat. 2009. PMID: 19319977

10

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

Marques-Pinheiro A, Marduel M, Rabès JP, Devillers M, Villéger L, Allard D, Weissenbach J, Guerin M, Zair Y, Erlich D, Junien C, Munnich A, Krempf M, Abifadel M, Jaïs JP; French Research Network on ADH; Boileau C, Varret M. Marques-Pinheiro A, et al. Among authors: rabes jp. Eur J Hum Genet. 2010 Nov;18(11):1236-42. doi: 10.1038/ejhg.2010.94. Epub 2010 Jun 23. Eur J Hum Genet. 2010. PMID: 20571503 Free PMC article.

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