Publications

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Filters: Keyword is Aortic Aneurysm, Thoracic  [Clear All Filters]
2012
Lindsay ME, Schepers D, Bolar NAjit, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJE, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid B-M, Yang MH, Bongers EMHF, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet. 2012 ;44(8):922-7.
2011
Guo D-chuan, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circ Cardiovasc Genet. 2011 ;4(1):36-42.
Kuang S-Q, Guo D-chuan, Prakash SK, McDonald M-LN, Johnson RJ, Wang M, Regalado ES, Russell L, Cao J-M, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, LeMaire SA, Belmont JW, Milewicz DM. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 ;7(6):e1002118.
2009
Guo D-chuan, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJay, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle E, Frazier LQ, LeMaire SA, Coselli JS, Estrera AL, Safi HJ, Veeraraghavan S, Muzny DM, Wheeler DA, Willerson JT, Yu RK, Shete SS, Scherer SE, Raman CS, L Buja M, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet. 2009 ;84(5):617-27.
2007
Guo D-chuan, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, Willing M, Lewis RA, Kim DH, Scherer SE, Tung PP, Ahn C, L Buja M, Raman CS, Shete SS, Milewicz DM. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet. 2007 ;39(12):1488-93.
Pannu H, Tran-Fadulu V, Papke CL, Scherer SE, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, G Vick W, Marian AJ, Raman CS, L Buja M, Milewicz DM. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Hum Mol Genet. 2007 ;16(20):2453-62.
2003
Hasham SN, Willing MC, Guo D-chuan, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 2003 ;107(25):3184-90.