LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
Guo, Dong-chuan, Regalado, Ellen S., Pinard, Amelie, Chen, Jiyuan, Lee, Kwanghyuk, Rigelsky, Christina, Zilberberg, Lior, Hostetler, Ellen M., Aldred, Micheala, Wallace, Stephanie E., Prakash, Siddharth K., Leal, Suzanne M., Bamshad, Michael J., Nickerson, Deborah A., Natowicz, Marvin, Rifkin, Daniel B., Milewicz, Dianna M.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
Get full text
Journal Article
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis
Shalhub, Sherene, Byers, Peter H., Hicks, Kelli L., Coleman, Dawn M., Davis, Frank M., De Caridi, Giovanni, Weaver, K. Nicole, Miller, Erin M., Schermerhorn, Marc L., Shean, Katie, Oderich, Gustavo, Ribeiro, Mauricio, Nishikawa, Cole, Charlton-Ouw, Kristofer, Behrendt, Christian-Alexander, Debus, E. Sebastian, von Kodolitsch, Yskert, Zarkowsky, Devin, Powell, Richard J., Pepin, Melanie, Milewicz, Dianna M., Regalado, Ellen S., Lawrence, Peter F., Woo, Karen
Published in Journal of vascular surgery (01.01.2020)
Published in Journal of vascular surgery (01.01.2020)
Get full text
Journal Article
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections
Guo, Dong-chuan, Grove, Megan L., Prakash, Siddharth K., Eriksson, Per, Hostetler, Ellen M., LeMaire, Scott A., Body, Simon C., Shalhub, Sherene, Estrera, Anthony L., Safi, Hazim J., Regalado, Ellen S., Zhou, Wei, Mathis, Michael R., Eagle, Kim A., Yang, Bo, Willer, Cristen J., Boerwinkle, Eric, Milewicz, Dianna M.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
Get full text
Journal Article
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J., Nickerson, Deborah A., Gornik, Heather L., Ganesh, Santhi K., Braverman, Alan C., Grange, Dorothy K., Milewicz, Dianna M.
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
Get full text
Journal Article
First Light of the Integral Field Unit of GRIS on the GREGOR Solar Telescope
Dominguez-Tagle, C., Collados, M., Lopez, R., Cedillo, J. J. Vaz, Esteves, M. A., Grassin, O., Vega, N., Mato, A., Quintero, J., Rodriguez, H., Regalado, S., Gonzalez, F.
Published in Journal of Astronomical Instrumentation (01.09.2022)
Published in Journal of Astronomical Instrumentation (01.09.2022)
Get full text
Journal Article
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.
Published in American journal of medical genetics. Part A (01.10.2010)
Published in American journal of medical genetics. Part A (01.10.2010)
Get full text
Journal Article
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
MUNOT, Pinki, SAUNDERS, Dawn E, JACQUES, Thomas S, COX, Timothy C, GANESAN, Vijeya, MILEWICZ, Dianna M, REGALADO, Ellen S, OSTERGAARD, John R, BRAUN, Kees P, KERR, Timothy, LICHTENBELT, Klaske D, PHILIP, Sunny, RITTEY, Christopher
Published in Brain (London, England : 1878) (01.08.2012)
Published in Brain (London, England : 1878) (01.08.2012)
Get full text
Journal Article
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
Kuang, Shao-Qing, Guo, Dong-Chuan, Prakash, Siddharth K, McDonald, Merry-Lynn N, Johnson, Ralph J, Wang, Min, Regalado, Ellen S, Russell, Ludivine, Cao, Jiu-Mei, Kwartler, Callie, Fraivillig, Kurt, Coselli, Joseph S, Safi, Hazim J, Estrera, Anthony L, Leal, Suzanne M, LeMaire, Scott A, Belmont, John W, Milewicz, Dianna M
Published in PLoS genetics (01.06.2011)
Published in PLoS genetics (01.06.2011)
Get full text
Journal Article
Combined diffusion and perfusion MR imaging as biomarkers of prognosis in immunocompetent patients with primary central nervous system lymphoma
Valles, F E, Perez-Valles, C L, Regalado, S, Barajas, R F, Rubenstein, J L, Cha, S
Published in American journal of neuroradiology : AJNR (01.01.2013)
Published in American journal of neuroradiology : AJNR (01.01.2013)
Get full text
Journal Article
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections
Regalado, E.S., Guo, D.C., Santos-Cortez, R.L.P., Hostetler, E., Bensend, T.A., Pannu, H., Estrera, A., Safi, H., Mitchell, A.L., Evans, J.P., Leal, S.M., Bamshad, M., Shendure, J., Nickerson, D.A., Milewicz, D.M.
Published in Clinical genetics (01.06.2016)
Published in Clinical genetics (01.06.2016)
Get full text
Journal Article
Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy
Milewicz, Dianna M., Kwartler, Callie S., Papke, Christina L., Regalado, Ellen S., Cao, Jiumei, Reid, Amy J.
Published in Genetics in medicine (01.04.2010)
Published in Genetics in medicine (01.04.2010)
Get full text
Journal Article
Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene
Milewicz, Dianna M., MD, PhD, Regalado, Ellen S., MS, Guo, Dong-chuan, PhD
Published in Journal of thoracic and cardiovascular surgery (Print) (01.12.2010)
Published in Journal of thoracic and cardiovascular surgery (Print) (01.12.2010)
Get full text
Journal Article
Conference Proceeding
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
Regalado, Ellen S, Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C, Ades, Lesley, Benedict, Susan, Bradley, Timothy J, Brickner, M Elizabeth, Chatfield, Kathryn C, Child, Anne, Feist, Cori, Holmes, Kathryn W, Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A, Mitchell, Anna L, Ostergaard, John R, Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
Get full text
Journal Article
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
Kuang, Shao-Qing, Medina-Martinez, Olga, Guo, Dong-Chuan, Gong, Limin, Regalado, Ellen S, Reynolds, Corey L, Boileau, Catherine, Jondeau, Guillaume, Prakash, Siddharth K, Kwartler, Callie S, Zhu, Lawrence Yang, Peters, Andrew M, Duan, Xue-Yan, Bamshad, Michael J, Shendure, Jay, Nickerson, Debbie A, Santos-Cortez, Regie L, Dong, Xiurong, Leal, Suzanne M, Majesky, Mark W, Swindell, Eric C, Jamrich, Milan, Milewicz, Dianna M
Published in The Journal of clinical investigation (01.03.2016)
Published in The Journal of clinical investigation (01.03.2016)
Get full text
Journal Article