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Page 1
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Arnaud P, et al. Among authors: edouard t. J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. J Med Genet. 2017. PMID: 27582083 Free article.
Editorial: Endocrine aspects of Noonan syndrome and related syndromes.
Radetti G, Edouard T, Mazzanti L, Tartaglia M, Zenker M. Radetti G, et al. Among authors: edouard t. Front Endocrinol (Lausanne). 2023 Jan 5;13:1127686. doi: 10.3389/fendo.2022.1127686. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36686494 Free PMC article. No abstract available.
Novel therapeutic perspectives in Noonan syndrome and RASopathies.
Saint-Laurent C, Mazeyrie L, Yart A, Edouard T. Saint-Laurent C, et al. Among authors: edouard t. Eur J Pediatr. 2024 Mar;183(3):1011-1019. doi: 10.1007/s00431-023-05263-y. Epub 2023 Oct 21. Eur J Pediatr. 2024. PMID: 37863846 Free PMC article. Review.
[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: edouard t. Arch Mal Coeur Vaiss. 2006 May;99(5):540-6. Arch Mal Coeur Vaiss. 2006. PMID: 16802751 French. No abstract available.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Among authors: edouard t. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, Edouard T, Dulac Y, Busa T, Gouya L, Milewicz DM, Jondeau G, Boileau C. Barbier M, et al. Among authors: edouard t. Am J Hum Genet. 2014 Dec 4;95(6):736-43. doi: 10.1016/j.ajhg.2014.10.018. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434006 Free PMC article.
96 results