PMC Links for OMIM (Select 611788) - PMC

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Items: 3

Select item 40122241.

Acute Aortic Dissections with Pregnancy in Women with ACTA2 Mutations

Ellen S. Regalado, Dong-chuan Guo, Anthony L. Estrera, L. Maximilian Buja, Dianna M. Milewicz

Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Am J Med Genet A. 2014 Jan; 0(1): 106–112. Published online 2013 Nov 15. doi: 10.1002/ajmg.a.36208

PMCID:: PMC4012224

Article PDF–578K

Select item 30836202.

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

Sabine Hoffjan, Stephan Waldmüller, Wulf Blankenfeldt, Judith Kötting, Petra Gehle, Priska Binner, Joerg T Epplen, Thomas Scheffold

Eur J Hum Genet. 2011 May; 19(5): 520–524. Published online 2011 Jan 19. doi: 10.1038/ejhg.2010.239

PMCID:: PMC3083620

Article PDF–426K

Select item 26809953.

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N. Singh, Ronald L. Dalman, James C. Grotta, Ali J. Marian, Eric A. Boerwinkle, Lorraine Q. Frazier, Scott A. LeMaire, Joseph S. Coselli, Anthony L. Estrera, Hazim J. Safi, Sudha Veeraraghavan, Donna M. Muzny, David A. Wheeler, James T. Willerson, Robert K. Yu, Sanjay S. Shete, Steven E. Scherer, C.S. Raman, L. Maximilian Buja, Dianna M. Milewicz

Am J Hum Genet. 2009 May 15; 84(5): 617–627. doi: 10.1016/j.ajhg.2009.04.007