Benlian P - Search Results

1

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: benlian p. Hum Mutat. 2005 Nov;26(5):497. doi: 10.1002/humu.9383. Hum Mutat. 2005. PMID: 16211558

2

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: benlian p. Hum Genet. 2002 Dec;111(6):501-10. doi: 10.1007/s00439-002-0813-4. Epub 2002 Sep 13. Hum Genet. 2002. PMID: 12436241

3

Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method.

Loux N, Saint-Jore B, Collod G, Dairou F, Benlian P, Truffert J, Dastugue B, Douste-Blazy P, de Gennes JL, Junien C, et al. Loux N, et al. Among authors: benlian p. Hum Mutat. 1992;1(4):325-32. doi: 10.1002/humu.1380010411. Hum Mutat. 1992. PMID: 1301940

4

Recurrent mutation at aa 792 in the LDL receptor gene in a French patient.

Loux N, Benlian P, Pastier D, Boileau C, Cambou JP, Monnier L, Percheron C, Junien C. Loux N, et al. Among authors: benlian p. Hum Genet. 1991 Jul;87(3):373-5. doi: 10.1007/BF00200923. Hum Genet. 1991. PMID: 1677927

5

Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.

Loux N, Saint-Jore B, Collod G, Benlian P, Cambou JP, Denat M, Junien C, Boileau C. Loux N, et al. Among authors: benlian p. Hum Mutat. 1993;2(2):145-7. doi: 10.1002/humu.1380020216. Hum Mutat. 1993. PMID: 8318993 No abstract available.

6

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

Cariou B, Ouguerram K, Zaïr Y, Guerois R, Langhi C, Kourimate S, Benoit I, Le May C, Gayet C, Belabbas K, Dufernez F, Chétiveaux M, Tarugi P, Krempf M, Benlian P, Costet P. Cariou B, et al. Among authors: benlian p. Arterioscler Thromb Vasc Biol. 2009 Dec;29(12):2191-7. doi: 10.1161/ATVBAHA.109.194191. Epub 2009 Sep 17. Arterioscler Thromb Vasc Biol. 2009. PMID: 19762784

7

Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia.

Benlian P, Turquet A, Carrat F, Amsellem S, Sanchez L, Briffaut D, Girardet JP. Benlian P, et al. J Pediatr Gastroenterol Nutr. 2009 Apr;48(4):456-63. doi: 10.1097/mpg.0b013e3181810b30. J Pediatr Gastroenterol Nutr. 2009. PMID: 19330934

8

Combination of apolipoprotein E2 and lipoprotein lipase heterozygosity causes severe hypertriglyceridemia during pregnancy.

Hiéronimus S, Benlian P, Bayer P, Bongain A, Fredenrich A. Hiéronimus S, et al. Among authors: benlian p. Diabetes Metab. 2005 Jun;31(3 Pt 1):295-7. doi: 10.1016/s1262-3636(07)70197-0. Diabetes Metab. 2005. PMID: 16142021

9

Candidate gene approach to type IIa hypercholesterolaemia.

Benlian P, Bonaiti C, Douste-Blazy P, Junien C. Benlian P, et al. Lancet. 1989 May 27;1(8648):1201-2. doi: 10.1016/s0140-6736(89)92778-5. Lancet. 1989. PMID: 2566760 No abstract available.

10

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.

Benlian P, de Gennes JL, Dairou F, Hermelin B, Ginon I, Villain E, Lagarde JP, Federspiel MC, Bertrand V, Bernard C, Bereziat G. Benlian P, et al. Hum Mutat. 1996;7(4):340-5. doi: 10.1002/(SICI)1098-1004(1996)7:4<340::AID-HUMU8>3.0.CO;2-C. Hum Mutat. 1996. PMID: 8723684

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