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Page 1
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: muti c. Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293843 Free PMC article.
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: muti c. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: muti c. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.
Bone mineral density in Marfan syndrome. A large case-control study.
Moura B, Tubach F, Sulpice M, Boileau C, Jondeau G, Muti C, Chevallier B, Ounnoughene Y, Le Parc JM; Multidisciplinary Marfan Syndrome Clinic Group. Moura B, et al. Among authors: muti c. Joint Bone Spine. 2006 Dec;73(6):733-5. doi: 10.1016/j.jbspin.2006.01.026. Epub 2006 Sep 14. Joint Bone Spine. 2006. PMID: 17056292
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: muti c. Joint Bone Spine. 2000;67(5):401-7. Joint Bone Spine. 2000. PMID: 11143906 Review.
[Aortic aneurysms excluding Marfan's syndrome].
Jondeau G, Muti C, Boileau C. Jondeau G, et al. Among authors: muti c. Arch Mal Coeur Vaiss. 2003 Nov;96(11):1074-80. Arch Mal Coeur Vaiss. 2003. PMID: 14694783 Review. French.
Maternal complication of pregnancy in Marfan syndrome.
Pacini L, Digne F, Boumendil A, Muti C, Detaint D, Boileau C, Jondeau G. Pacini L, et al. Among authors: muti c. Int J Cardiol. 2009 Aug 14;136(2):156-61. doi: 10.1016/j.ijcard.2008.04.035. Epub 2008 Jul 15. Int J Cardiol. 2009. PMID: 18632169
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Among authors: muti c. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
[Recommendations for the medical management of aortic complications of Marfan's syndrome].
Jondeau G, Barthelet M, Baumann C, Bonnet D, Chevallier B, Collignon P, Dulac Y, Edouard T, Faivre L, Germain D, Khau Van Kien P, Lacombe D, Ladouceur M, Lemerrer M, Leheup B, Lupoglazoff JM, Magnier S, Muti C, Plauchu PH, Raffestin B, Sassolas F, Schleich JM, Sidi D, Themar-Noël C, Varin J, Wolf JE; Foundation Groupama; French Association of Marfan syndrome. Jondeau G, et al. Among authors: muti c. Arch Mal Coeur Vaiss. 2006 May;99(5):540-6. Arch Mal Coeur Vaiss. 2006. PMID: 16802751 French. No abstract available.
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Aubart M, Gobert D, Aubart-Cohen F, Detaint D, Hanna N, d'Indya H, Lequintrec JS, Renard P, Vigneron AM, Dieudé P, Laissy JP, Koch P, Muti C, Roume J, Cusin V, Grandchamp B, Gouya L, LeGuern E, Papo T, Boileau C, Jondeau G. Aubart M, et al. Among authors: muti c. PLoS One. 2014 May 7;9(5):e96387. doi: 10.1371/journal.pone.0096387. eCollection 2014. PLoS One. 2014. PMID: 24804794 Free PMC article.
25 results