Boileau C - Search Results

1

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: boileau c. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 Free PMC article.

2

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.

3

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.

4

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.

5

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.

6

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

7

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.

8

Marfan syndrome and fibrillin disorders.

Le Parc JM, Molcard S, Tubach F, Boileau C, Jondeau G, Muti C, Chevallier B, Pisella PJ. Le Parc JM, et al. Among authors: boileau c. Joint Bone Spine. 2000;67(5):401-7. Joint Bone Spine. 2000. PMID: 11143906 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

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: boileau c. J Med Genet. 2003 Jan;40(1):34-6. doi: 10.1136/jmg.40.1.34. J Med Genet. 2003. PMID: 12525539 Free PMC article.

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