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Page 1
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium.
Lim MS, Guo DC, Velasco Torrez W, Lai A, Schweber J, Garg N, Fleischer J, Boileau C, De Backer J, Evangelista A, Jondeau G, Le Goff C, Milleron O, Muiño-Mosquera L, Morris S, Ouzounian M, Cervi E, Marcadier J, Caffarelli A, Shalhub S, Pyeritz R, Yetman A, Milewicz D, Braverman AC. Lim MS, et al. Among authors: milleron o. J Med Genet. 2024 Dec 9:jmg-2024-110251. doi: 10.1136/jmg-2024-110251. Online ahead of print. J Med Genet. 2024. PMID: 39653386
Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK; Montalcino Aortic Consortium *. Asokan KL, et al. Among authors: milleron o. J Am Heart Assoc. 2024 Nov 5;13(21):e036274. doi: 10.1161/JAHA.124.036274. Epub 2024 Oct 18. J Am Heart Assoc. 2024. PMID: 39424426 Free article.
Marfan Syndrome: Always Evolving.
Jondeau G, Boileau C, Milleron O. Jondeau G, et al. Among authors: milleron o. Circ Cardiovasc Genet. 2017 Jun;10(3):e001785. doi: 10.1161/CIRCGENETICS.117.001785. Circ Cardiovasc Genet. 2017. PMID: 28600389 No abstract available.
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, Aubart M, Ghaleb Y, Abou Khalil Y, Varret M, El Khoury P, Ho-Tin-Noé B, Alembik Y, Gaertner S, Isidor B, Gouya L, Milleron O, Sekiguchi K, Milewicz D, De Backer J, Le Goff C, Michel JB, Jondeau G, Sakai LY, Boileau C, Abifadel M. Elbitar S, et al. Among authors: milleron o. Genet Med. 2021 Jan;23(1):111-122. doi: 10.1038/s41436-020-00947-4. Epub 2020 Aug 28. Genet Med. 2021. PMID: 32855533 Free PMC article.
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Arnaud P, Morel H, Milleron O, Gouya L, Francannet C, Da Costa A, Le Goff C, Jondeau G, Boileau C, Hanna N. Arnaud P, et al. Among authors: milleron o. Genet Med. 2021 May;23(5):865-871. doi: 10.1038/s41436-020-01078-6. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495528 Free PMC article.
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Caruana M, Baars MJ, Bashiardes E, Benke K, Björck E, Codreanu A, de Moya Rubio E, Dumfarth J, Evangelista A, Groenink M, Kallenbach K, Kempers M, Keravnou A, Loeys B, Muiño-Mosquera L, Nagy E, Milleron O, Nistri S, Pepe G, Roos-Hesselink J, Szabolcs Z, Teixidó-Tura G, Timmermans J, Van de Laar I, van Kimmenade R, Verstraeten A, Von Kodolitsch Y, De Backer J, Jondeau G. Caruana M, et al. Among authors: milleron o. Eur J Med Genet. 2023 Jan;66(1):104673. doi: 10.1016/j.ejmg.2022.104673. Epub 2022 Nov 29. Eur J Med Genet. 2023. PMID: 36460281 Free article.
[Marfan syndrome and related disorders].
Eliahou L, Milleron O, Jondeau G. Eliahou L, et al. Among authors: milleron o. Rev Prat. 2020 Nov;70(9):1005-1009. Rev Prat. 2020. PMID: 33739763 French.
Management of aortic disease in children with FBN1-related Marfan syndrome.
Muiño-Mosquera L, Cervi E, De Groote K, Dewals W, Fejzic Z, Kazamia K, Mathur S, Milleron O, Mir TS, Nielsen DG, Odermarsky M, Sabate-Rotes A, van der Hulst A, Valenzuela I, Jondeau G. Muiño-Mosquera L, et al. Among authors: milleron o. Eur Heart J. 2024 Oct 14;45(39):4156-4169. doi: 10.1093/eurheartj/ehae526. Eur Heart J. 2024. PMID: 39250726 Free PMC article. Review.
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: milleron o. 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.
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixedo G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, Jeremy R, Odent S, Adès LC, Bakshi M, Holman K, LeMaire S, Milleron O, Langeois M, Spentchian M, Aubart M, Boileau C, Pyeritz R, Milewicz DM; Montalcino Aortic Consortium. Jondeau G, et al. Among authors: milleron o. Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21. Circ Cardiovasc Genet. 2016. PMID: 27879313 Free PMC article.
64 results