Rabès JP - Search Results

1

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

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

Resistance to high-fat diet in the female progeny of obese mice fed a control diet during the periconceptual, gestation, and lactation periods.

Gallou-Kabani C, Vigé A, Gross MS, Boileau C, Rabes JP, Fruchart-Najib J, Jais JP, Junien C. Gallou-Kabani C, et al. Among authors: rabes jp. Am J Physiol Endocrinol Metab. 2007 Apr;292(4):E1095-100. doi: 10.1152/ajpendo.00390.2006. Epub 2006 Dec 12. Am J Physiol Endocrinol Metab. 2007. PMID: 17164437 Free article.

9

C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome.

Gallou-Kabani C, Vigé A, Gross MS, Rabès JP, Boileau C, Larue-Achagiotis C, Tomé D, Jais JP, Junien C. Gallou-Kabani C, et al. Among authors: rabes jp. Obesity (Silver Spring). 2007 Aug;15(8):1996-2005. doi: 10.1038/oby.2007.238. Obesity (Silver Spring). 2007. PMID: 17712117 Free article.

10

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.

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