Boileau C - Search Results

1

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: boileau c. Hum Genet. 1991 Jul;87(3):373-5. doi: 10.1007/BF00200923. Hum Genet. 1991. PMID: 1677927

2

Extended haplotypes and linkage disequilibrium between 11 markers at the APOA1-C3-A4 gene cluster on chromosome 11.

Benlian P, Boileau C, Loux N, Pastier D, Masliah J, Coulon M, Nigou M, Ragab A, Guimard J, Ruidavets JB, et al. Benlian P, et al. Among authors: boileau c. Am J Hum Genet. 1991 May;48(5):903-10. Am J Hum Genet. 1991. PMID: 1673288 Free PMC article.

3

Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.

Boileau C, Junien C. Boileau C, et al. J Med Genet. 1989 Dec;26(12):790-1. doi: 10.1136/jmg.26.12.790. J Med Genet. 1989. PMID: 2575670 Free PMC article. No abstract available.

4

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.

Saint-Jore B, Loux N, Junien C, Boileau C. Saint-Jore B, et al. Among authors: boileau c. Hum Genet. 1993 Jun;91(5):511-2. doi: 10.1007/BF00217783. Hum Genet. 1993. PMID: 8100212

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: boileau c. Hum Mutat. 1993;2(2):145-7. doi: 10.1002/humu.1380020216. Hum Mutat. 1993. PMID: 8318993 No abstract available.

6

Software and database for the analysis of mutations in the human LDL receptor gene.

Varret M, Rabès JP, Collod-Béroud G, Junien C, Boileau C, Béroud C. Varret M, et al. Among authors: boileau c. Nucleic Acids Res. 1997 Jan 1;25(1):172-80. doi: 10.1093/nar/25.1.172. Nucleic Acids Res. 1997. PMID: 9016531 Free PMC article.

7

Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.

Rabès JP, Varret M, Saint-Jore B, Erlich D, Jondeau G, Krempf M, Giraudet P, Junien C, Boileau C. Rabès JP, et al. Among authors: boileau c. Hum Mutat. 1997;10(2):160-3. doi: 10.1002/(SICI)1098-1004(1997)10:2<160::AID-HUMU8>3.0.CO;2-O. Hum Mutat. 1997. PMID: 9259199

8

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

Rabès JP, Varret M, Devillers M, Aegerter P, Villéger L, Krempf M, Junien C, Boileau C. Rabès JP, et al. Among authors: boileau c. Arterioscler Thromb Vasc Biol. 2000 Oct;20(10):E76-82. doi: 10.1161/01.atv.20.10.e76. Arterioscler Thromb Vasc Biol. 2000. PMID: 11031227 Review.

9

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: boileau c. Hum Mutat. 2002 Aug;20(2):81-7. doi: 10.1002/humu.10102. Hum Mutat. 2002. PMID: 12124988 Review.

10

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

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