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Page 1
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL. de Beaucoudrey L, et al. Among authors: boileau c. J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321. J Exp Med. 2008. PMID: 18591412 Free PMC article.
Heterozygous TGFBR2 mutations in Marfan syndrome.
Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Among authors: boileau c. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.
Molecular genetics of Marfan syndrome.
Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Boileau C, et al. Curr Opin Cardiol. 2005 May;20(3):194-200. doi: 10.1097/01.hco.0000162398.21972.cd. Curr Opin Cardiol. 2005. PMID: 15861007 Review.
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: boileau c. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
Attias D, Stheneur C, Roy C, Collod-Béroud G, Detaint D, Faivre L, Delrue MA, Cohen L, Francannet C, Béroud C, Claustres M, Iserin F, Khau Van Kien P, Lacombe D, Le Merrer M, Lyonnet S, Odent S, Plauchu H, Rio M, Rossi A, Sidi D, Steg PG, Ravaud P, Boileau C, Jondeau G. Attias D, et al. Among authors: boileau c. Circulation. 2009 Dec 22;120(25):2541-9. doi: 10.1161/CIRCULATIONAHA.109.887042. Epub 2009 Dec 7. Circulation. 2009. PMID: 19996017 Free article.
Expanding the skeletal phenotype of Loeys-Dietz syndrome.
Sousa SB, Lambot-Juhan K, Rio M, Baujat G, Topouchian V, Hanna N, Le Merrer M, Brunelle F, Munnich A, Boileau C, Cormier-Daire V. Sousa SB, et al. Among authors: boileau c. Am J Med Genet A. 2011 May;155A(5):1178-83. doi: 10.1002/ajmg.a.33813. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484991 No abstract available.
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Le Goff C, et al. Among authors: boileau c. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16. Am J Hum Genet. 2011. PMID: 21683322 Free PMC article.
The translational science of Marfan syndrome.
Jondeau G, Michel JB, Boileau C. Jondeau G, et al. Among authors: boileau c. Heart. 2011 Aug;97(15):1206-14. doi: 10.1136/hrt.2010.212100. Heart. 2011. PMID: 21742617 Review.
359 results