Using Genetics for Personalized Management of Heritable Thoracic Aortic Disease: How Do We Get There?

per Milewicz, Dianna M., Regalado, Ellen S.
Publicat a J Thorac Cardiovasc Surg (2014)

Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene

per Milewicz, Dianna M., Regalado, Ellen S., Guo, Dong-chuan
Publicat 2010

Genes Predisposing to Thoracic Aortic Aneurysms and Dissections: Associated Phenotypes, Gene-Specific Management, and Genetic Testing

per Milewicz, Dianna M., Carlson, Alicia A., Regalado, Ellen S.
Publicat 2010

Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections

per Prakash, Siddharth, Kuang, Shao-Qing, Regalado, Ellen, Guo, Dongchuan, Milewicz, Dianna
Publicat a PLoS One (2016)

Successes and Challenges of Using Whole Exome Sequencing to Identify Novel Genes Underlying an Inherited Predisposition for Thoracic Aortic Aneurysms and Acute Aortic Dissections

per Milewicz, Dianna M., Regalado, Ellen, Shendure, Jay, Nickerson, Deborah A., Guo, Dongchuan
Publicat 2013

Acute Aortic Dissections with Pregnancy in Women with ACTA2 Mutations

per Regalado, Ellen S., Guo, Dong-chuan, Estrera, Anthony L., Buja, L. Maximilian, Milewicz, Dianna M.
Publicat 2013

Eye features in 3 Danish patients with Multi Systemic Smooth Muscle Dysfunction Syndrome

per Moller, H.U., Fledelius, Hans C., Milemicz, Dianna M., Regalado, Ellen S., Ostergaard, John R.
Publicat a Br J Ophthalmol (2012)

Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections

per Milewicz, Dianna M., Trybus, Kathleen M., Guo, Dongchuan, Sweeney, H. Lee, Regalado, Ellen, Kamm, Kristine, Stull, James T.
Publicat a Arterioscler Thromb Vasc Biol (2016)

Thoracic Aortic Disease in Two Patients with Juvenile Polyposis Syndrome and SMAD4 mutations

per Teekakirikul, Polakit, Milewicz, Dianna M., Miller, David T., Lacro, Ronald V., Regalado, Ellen S., Rosales, Ana Maria, Ryan, Daniel P., Toler, Tomi L., Lin, Angela E.
Publicat 2012

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants

per Lauer, Arne, Speroni, Samantha L., Patel, Jay B., Regalado, Ellen, Choi, Myoung, Smith, Edward, Kalpathy-Kramer, Jayashree, Caruso, Paul, Milewicz, Dianna M., Musolino, Patricia L.
Publicat a Neurology (2021)

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection

per Guo, Dong-chuan, Hostetler, Ellen M., Fan, Yuxin, Kulmacz, Richard J., Zhang, Di, Nickerson, Deborah A., Leal, Suzanne M., LeMaire, Scott A., Regalado, Ellen S., Milewicz, Dianna M.
Publicat a J Am Coll Cardiol (2017)

Familial Thoracic Aortic Aneurysms and Dissections: Identification of a Novel Locus for Stable Aneurysms with a Low Risk for Progression to Aortic Dissection

per Guo, Dong-Chuan, Regalado, Ellen S., Minn, Charles, Tran-Fadulu, Van, Coney, Joshua, Cao, Jiumei, Wang, Min, Yu, Robert K., Estrera, Anthony L., Safi, Hazim J., Shete, Sanjay S., Milewicz, Dianna M.
Publicat 2010

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

per Munot, Pinki, Saunders, Dawn E., Milewicz, Dianna M., Regalado, Ellen S., Ostergaard, John R., Braun, Kees P., Kerr, Timothy, Lichtenbelt, Klaske D., Philip, Sunny, Rittey, Christopher, Jacques, Thomas S., Cox, Timothy C., Ganesan, Vijeya
Publicat 2012

Autosomal Dominant Inheritance of a Predisposition to Thoracic Aortic Aneurysms and Dissections and Intracranial Saccular Aneurysms

per Regalado, Ellen, Medrek, Sarah, Tran-Fadulu, Van, Guo, Dong-Chuan, Pannu, Hariyadarshi, Golabbakhsh, Hossein, Smart, Suzanne, Chen, Julia H., Shete, Sanjay, Kim, Dong H., Stern, Ralph, Braverman, Alan C., Milewicz, Dianna M.
Publicat 2011

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections

per Duan, Xue-Yan, Guo, Dong-chuan, Regalado, Ellen S., Shen, Hong, Coselli, Joseph S., Estrera, Anthony L., Safi, Hazim J., Bamshad, Michael J., Nickerson, Deborah A., LeMaire, Scott A., De Backer, Julie, Milewicz, Dianna M.
Publicat a Eur J Hum Genet (2019)

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

per Wang, Li, Guo, Dong-chuan, Cao, Jiumei, Gong, Limin, Kamm, Kristine E., Regalado, Ellen, Li, Li, Shete, Sanjay, He, Wei-Qi, Zhu, Min-Sheng, Offermanns, Stephan, Gilchrist, Dawna, Elefteriades, John, Stull, James T., Milewicz, Dianna M.
Publicat 2010

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

per Wang, Li, Guo, Dong-chuan, Cao, Jiumei, Gong, Limin, Kamm, Kristine E., Regalado, Ellen, Li, Li, Shete, Sanjay, He, Wei-Qi, Zhu, Min-Sheng, Offermanns, Stephan, Gilchrist, Dawna, Elefteriades, John, Stull, James T., Milewicz, Dianna M.
Publicat 2011

Disrupted Nitric Oxide Signaling due to GUCY1A3 Mutations Increases Risk for Moyamoya Disease, Achalasia and Hypertension

per Wallace, Stephanie, Guo, Dong-chuan, Regalado, Ellen, Mellor-Crummey, Lauren, Banshad, Michael, Nickerson, Deborah A., Dauser, Robert, Hanchard, Neil, Marom, Ronit, Martin, Emil, Berka, Vladimir, Sharina, Iraida, Ganesan, Vijeya, Saunders, Dawn, Morris, Shaine, Milewicz, Dianna M.
Publicat a Clin Genet (2016)

Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections

per Prakash, Siddharth K., LeMaire, Scott A., Guo, Dong-Chuan, Russell, Ludivine, Regalado, Ellen S., Golabbakhsh, Hossein, Johnson, Ralph J., Safi, Hazim J., Estrera, Anthony L., Coselli, Joseph S., Bray, Molly S., Leal, Suzanne M., Milewicz, Dianna M., Belmont, John W.
Publicat 2010

Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections

per Prakash, Siddharth K., LeMaire, Scott A., Guo, Dong-Chuan, Russell, Ludivine, Regalado, Ellen S., Golabbakhsh, Hossein, Johnson, Ralph J., Safi, Hazim J., Estrera, Anthony L., Coselli, Joseph S., Bray, Molly S., Leal, Suzanne M., Milewicz, Dianna M., Belmont, John W.
Publicat 2013