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339 results

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Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A, Kaw K, Hostetler EM, Beleza-Meireles A, Smith-Collins A, Armstrong C, Scurr I, Cotts T, Aatre R, Bamshad MJ, Earl D, Groner A, Agre K, Raveh Y, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: milewicz dm. Am J Med Genet A. 2022 Aug;188(8):2389-2396. doi: 10.1002/ajmg.a.62775. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567597 Free PMC article.
Genetic basis of thoracic aortic aneurysms and aortic dissections.
Pannu H, Tran-Fadulu V, Milewicz DM. Pannu H, et al. Among authors: milewicz dm. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):10-6. doi: 10.1002/ajmg.c.30069. Am J Med Genet C Semin Med Genet. 2005. PMID: 16273536 Review.
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Guo DC, 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 S, Tung PP, Ahn C, Buja LM, Raman CS, Shete SS, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11. Nat Genet. 2007. PMID: 17994018
Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.
Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, Boerwinkle EA, 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, Buja LM, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Am J Hum Genet. 2009 May;84(5):617-27. doi: 10.1016/j.ajhg.2009.04.007. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409525 Free PMC article.
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.
Tran-Fadulu V, Pannu H, Kim DH, Vick GW 3rd, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM. Tran-Fadulu V, et al. Among authors: milewicz dm. J Med Genet. 2009 Sep;46(9):607-13. doi: 10.1136/jmg.2008.062844. Epub 2009 Jun 18. J Med Genet. 2009. PMID: 19542084
339 results