Boileau C - Search Results

1

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, Le Goff C, Jondeau G, Boileau C, Faivre L. Arnaud P, et al. Among authors: boileau c. Hum Genet. 2020 Apr;139(4):461-472. doi: 10.1007/s00439-019-02102-9. Epub 2020 Jan 24. Hum Genet. 2020. PMID: 31980905 Clinical Trial.

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

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.

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

[Value of multidisciplinary consultation in diagnosis and survival of Marfan syndrome].

Chevallier B, Albert M, Boileau C, Chagnon S, Goldschild M, Jondeau G, Le Parc JM. Chevallier B, et al. Among authors: boileau c. Presse Med. 1998 Sep 26;27(28):1424-6. Presse Med. 1998. PMID: 9793038 French.

8

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

Collod-Béroud G, Lackmy-Port-Lys M, Jondeau G, Mathieu M, Maingourd Y, Coulon M, Guillotel M, Junien C, Boileau C. Collod-Béroud G, et al. Among authors: boileau c. Am J Hum Genet. 1999 Sep;65(3):917-21. doi: 10.1086/302545. Am J Hum Genet. 1999. PMID: 10441597 Free PMC article. No abstract available.

9

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.

10

Marfan syndrome in the third Millennium.

Collod-Béroud G, Boileau C. Collod-Béroud G, et al. Among authors: boileau c. Eur J Hum Genet. 2002 Nov;10(11):673-81. doi: 10.1038/sj.ejhg.5200876. Eur J Hum Genet. 2002. PMID: 12404097 Free PMC article. Review.

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