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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: le parc jm. 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: le parc jm. Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871. Hum Mutat. 2008. PMID: 18781618 Free article.
Spinal imaging contributes to the diagnosis of Marfan syndrome.
Sznajder M, Krug P, Taylor M, Moura B, Leparc JM, Boileau C, Jondeau G, Chevallier B, Pelage JP, Stheneur C. Sznajder M, et al. Joint Bone Spine. 2010 Oct;77(5):445-50. doi: 10.1016/j.jbspin.2010.02.031. Epub 2010 May 8. Joint Bone Spine. 2010. PMID: 20452804
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. Joint Bone Spine. 2000;67(5):401-7. Joint Bone Spine. 2000. PMID: 11143906 Review.
[Marfan syndrome].
Jondeau G, Boileau C, Chevallier B, Delorme G, Digne F, Guiti C, Milleron O, de SaintJean M, Le Parc JM, Moura B. Jondeau G, et al. Among authors: le parc jm. Arch Mal Coeur Vaiss. 2003 Nov;96(11):1081-8. Arch Mal Coeur Vaiss. 2003. PMID: 14694784 Review. French.
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: le parc jm. 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
[Fibrillin network in normal bone tissue].
Plantin P, Durigon M, Boileau C, Le Parc J. Plantin P, et al. Ann Pathol. 2000 Mar;20(2):115-8. Ann Pathol. 2000. PMID: 10740005 French.
84 results