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Page 1
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. 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.
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. 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.
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
Regalado ES, Guo DC, Prakash S, Bensend TA, Flynn K, Estrera A, Safi H, Liang D, Hyland J, Child A, Arno G, Boileau C, Jondeau G, Braverman A, Moran R, Morisaki T, Morisaki H; Montalcino Aortic Consortium; Pyeritz R, Coselli J, LeMaire S, Milewicz DM. Regalado ES, et al. Circ Cardiovasc Genet. 2015 Jun;8(3):457-64. doi: 10.1161/CIRCGENETICS.114.000943. Epub 2015 Mar 10. Circ Cardiovasc Genet. 2015. PMID: 25759435 Free PMC article.
MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557781 Free PMC article.
Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility.
Murad AM, Hill HL, Wang Y, Ghannam M, Yang ML, Pugh NL, Asch FM, Hornsby W, Driscoll A, McNamara J, Willer CJ, Regalado ES; GenTAC Investigators; Montalcino Aortic Consortium Investigators; Milewicz DM, Eagle KA, Ganesh SK. Murad AM, et al. Am J Med Genet A. 2022 May;188(5):1448-1456. doi: 10.1002/ajmg.a.62661. Epub 2022 Jan 29. Am J Med Genet A. 2022. PMID: 35092149 Free PMC article.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M; Montalcino Aortic Consortium; Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM. Regalado ES, et al. Genet Med. 2018 Oct;20(10):1206-1215. doi: 10.1038/gim.2017.245. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300374 Free PMC article.