Boileau C - Search Results

1

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

2

[Marfan syndrome. Current molecular data].

Boileau C, Coulon M, Junien C. Boileau C, et al. Arch Fr Pediatr. 1992 Dec;49(10):941-3. Arch Fr Pediatr. 1992. PMID: 1304168 Review. French. No abstract available.

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

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

Boileau C, Jondeau G, Bonaiti C, Coulon M, Delorme G, Dubourg O, Bourdarias JP, Junien C. Boileau C, et al. J Med Genet. 1990 Feb;27(2):78-81. doi: 10.1136/jmg.27.2.78. J Med Genet. 1990. PMID: 1969488 Free PMC article.

5

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.

6

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Collod G, Babron MC, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias JP, Bonaïti-Pellié C, Junien C, Boileau C. Collod G, et al. Among authors: boileau c. Nat Genet. 1994 Nov;8(3):264-8. doi: 10.1038/ng1194-264. Nat Genet. 1994. PMID: 7632217 Free PMC article.

7

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

8

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

Lavedan C, Hofmann-Radvanyi H, Boileau C, Bonaïti-Pellié C, Savoy D, Shelbourne P, Duros C, Rabes JP, Dehaupas I, Luce S, et al. Lavedan C, et al. Among authors: boileau c. J Med Genet. 1994 Jan;31(1):33-6. doi: 10.1136/jmg.31.1.33. J Med Genet. 1994. PMID: 8151634 Free PMC article.

9

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Boileau C, Jondeau G, Babron MC, Coulon M, Alexandre JA, Sakai L, Melki J, Delorme G, Dubourg O, Bonaïti-Pellié C, et al. Boileau C, et al. Am J Hum Genet. 1993 Jul;53(1):46-54. Am J Hum Genet. 1993. PMID: 8317497 Free PMC article.

10

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.

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