Boileau C - Search Results

1

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

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

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

4

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.

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

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

Saint-Jore B, Varret M, Dachet C, Rabès JP, Devillers M, Erlich D, Blanchard P, Krempf M, Mathé D, Chanu B, Jacotot B, Farnier M, Bonaïti-Péllié C, Junien C, Boileau C. Saint-Jore B, et al. Among authors: boileau c. Eur J Hum Genet. 2000 Aug;8(8):621-30. doi: 10.1038/sj.ejhg.5200516. Eur J Hum Genet. 2000. PMID: 10952765

7

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: boileau c. Hum Mutat. 2009 Jul;30(7):E682-91. doi: 10.1002/humu.21002. Hum Mutat. 2009. PMID: 19319977

8

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: boileau c. 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.

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

Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.

Collod G, Chu ML, Sasaki T, Coulon M, Timpl R, Renkart L, Weissenbach J, Jondeau G, Bourdarias JP, Junien C, Boileau C. Collod G, et al. Among authors: boileau c. Eur J Hum Genet. 1996;4(5):292-5. doi: 10.1159/000472216. Eur J Hum Genet. 1996. PMID: 8946175 Free article.

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