Le centre de référence du syndrome de Marfan et maladies apparentées a réalisé de nombreuses publications scientifiques. Ci-dessous la liste de ses publications :

1. A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus. Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P. Mol Genet Genomic Med. 2021 Nov;9(11):e1814.
2. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. Ziegler A, Duclaux-Loras R, Revenu C, Charbit-Henrion F, Begue B, Duroure K, Grimaud L, Guihot AL, Desquiret-Dumas V, Zarhrate M, Cagnard N, Mas E, Breton A, Edouard T, Billon C, Frank M, Colin E, Lenaers G, Henrion D, Lyonnet S, Faivre L, Alembik Y, Philippe A, Moulin B, Reinstein E, Tzur S, Attali R, McGillivray G, White SM, Gallacher L, Kutsche K, Schneeberger P, Girisha KM, Nayak SS, Pais L, Maroofian R, Rad A, Vona B, Karimiani EG, Lekszas C, Haaf T, Martin L, Ruemmele F, Bonneau D, Cerf-Bensussan N, Del Bene F, Parlato M. Am J Hum Genet. 2021 Jun 3;108(6):1126-1137.
3. Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders. Chesneau B, Plancke A, Rolland G, Chassaing N, Coubes C, Brischoux-Boucher E, Edouard T, Dulac Y. Eur J Hum Genet. 2021 Jan 7. Online ahead of print.
4. Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndrome. Hascoet S, Edouard T, Plaisancie J, Arnoult F, Milleron O, Stheneur C, Chevallier B, Zordan C, Odent S, Bal L, Faivre L, Leheup B, Dupuis-Girod S, Ruidavets JB, Acar P, Ferrieres J, Jondeau G, Dulac Y.Arch Cardiovasc Dis. 2020 Jan;113(1):40-49. Clinical Trial.
5. Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature. Chesneau B, Edouard T, Dulac Y, Colineaux H, Langeois M, Hanna N, Boileau C, Arnaud P, Chassaing N, Julia S, Jondeau G, Plancke A, Khau Van Kien P, Plaisancié J.Mol Genet Genomic Med. 2020 May;8(5):e1132.
6. Aortic valve reconstruction in children: A new string to our bow. Cuttone F, Alacoque X, Leobon B, Karsenty C, Guitarte A, Dulac Y, Chausseray G, Acar P, Hadeed K.Arch Cardiovasc Dis. 2019 Nov;112(11):653-656.
7. Quand évoquer un syndrome de Marfan chez l’enfant ? Edouard T, Dulac Y. Médecine et Enfance. 2019 Mars : 52-55.
8. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD). Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C. Genet Med. 2019 Feb 11.
9. 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. J Med Genet. 2017 Feb;54(2):100-103.
10. Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm. De Potter MJ, Edouard T, Amadieu R, Plaisancié J, Julia S, Hadeed K, Hascoët S, Acar P, Dulac Y. Arch Pediatr. 2016 May;23(5):504-7.
11. Marfan Sartan: a randomized, double-blind, placebo-controlled trial. Milleron O, Arnoult F, Ropers J, Aegerter P, Detaint D, Delorme G, Attias D, Tubach F, Dupuis-Girod S, Plauchu H, Barthelet M, Sassolas F, Pangaud N, Naudion S, Thomas-Chabaneix J, Dulac Y, Edouard T, Wolf JE, Faivre L, Odent S, Basquin A, Habib G, Collignon P, Boileau C, Jondeau G. Eur Heart J. 2015 Aug 21;36(32):2160-6.
12. Morgagni-Larrey diaphragmatic hernia in a 3-month-old child affected by Marfan syndrome. Laumonerie P, Mouttalib S, Edouard T, Galinier P. Arch Pediatr. 2015 Nov;22(11):1151-3.
13. Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype. Haine E, Salles JP, Khau Van Kien P, Conte-Auriol F, Gennero I, Plancke A, Julia S, Dulac Y, Tauber M, Edouard T. J Bone Miner Res. 2015 Aug;30(8):1369-76.
14. 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. Am J Hum Genet. 2014 Dec 4;95(6):736-43.
15. 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. Clin Genet. 2013 Dec;84(6):507-21.
16. Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association ? Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E. Eur J Med Genet. 2010 Jan-Feb;53(1):29-34.
17. Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature. Cheuret E, Edouard T, Mejdoubi M, Acar P, Pienkowski C, Cances C, Lebon S, Tauber M, Chaix Y. Childs Nerv Syst. 2008 Apr;24(4):509-13.
18. Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome. Ladouceur M, Fermanian C, Lupoglazoff JM, Edouard T, Dulac Y, Acar P, Magnier S, Jondeau G. Am J Cardiol. 2007 Feb 1;99(3):406-9.
19. 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. Arch Mal Coeur Vaiss. 2006 May;99(5):540-6.
20. 3D echocardiography of the ascending aorta in Marfan’s syndrome. Dulac Y, Taktak A, Acar P, Abadir S, Chilon T, Edouard T, Julia S, Tauber M, Hovnanian A. Arch Mal Coeur Vaiss. 2005 May;98(5):538-41.