Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review

por Fink, Dorothy A., Nelson, Lawrence M., Pyeritz, Reed, Johnson, Josh, Sherman, Stephanie L., Cohen, Yoram, Elizur, Shai E.
Publicado 2018

Development and performance of a hereditary hemorrhagic telangiectasia-specific quality-of-life instrument

por Kasthuri, Raj S., Chaturvedi, Shruti, Thomas, Sonia, Vandergrift, Nathan, Bann, Carla, Schaefer, Nicole, Clancy, Marianne S., Pyeritz, Reed, McCrae, Keith R.
Publicado 2022

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

por von Kodolitsch, Yskert, Rybczynski, Meike, Vogler, Marina, Mir, Thomas S, Schüler, Helke, Kutsche, Kerstin, Rosenberger, Georg, Detter, Christian, Bernhardt, Alexander M, Larena-Avellaneda, Axel, Kölbel, Tilo, Debus, E Sebastian, Schroeder, Malte, Linke, Stephan J, Fuisting, Bettina, Napp, Barbara, Kammal, Anna Lena, Püschel, Klaus, Bannas, Peter, Hoffmann, Boris A, Gessler, Nele, Vahle-Hinz, Eva, Kahl-Nieke, Bärbel, Thomalla, Götz, Weiler-Normann, Christina, Ohm, Gunda, Neumann, Stefan, Benninghoven, Dieter, Blankenberg, Stefan, Pyeritz, Reed E
Publicado 2016

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

por 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.
Publicado 2018

The IGNITE network: a model for genomic medicine implementation and research

por Weitzel, Kristin Wiisanen, Alexander, Madeline, Bernhardt, Barbara A., Calman, Neil, Carey, David J., Cavallari, Larisa H., Field, Julie R., Hauser, Diane, Junkins, Heather A., Levin, Phillip A., Levy, Kenneth, Madden, Ebony B., Manolio, Teri A., Odgis, Jacqueline, Orlando, Lori A., Pyeritz, Reed, Wu, R. Ryanne, Shuldiner, Alan R., Bottinger, Erwin P., Denny, Joshua C., Dexter, Paul R., Flockhart, David A., Horowitz, Carol R., Johnson, Julie A., Kimmel, Stephen E., Levy, Mia A., Pollin, Toni I., Ginsburg, Geoffrey S.
Publicado 2016

Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (Gen...

por Roman, Mary J., Pugh, Norma L., Hendershot, Tabitha P., Devereux, Richard B., Dietz, Hal, Holmes, Kathryn, Eagle, Kim A., LeMaire, Scott A., Milewicz, Dianna M., Morris, Shaine A., Pyeritz, Reed E., Ravekes, William J., Shohet, Ralph V., Silberbach, Michael, Dietz, Harry C., Habashi, Jennifer, Prakash, Siddharth K., Maslen, Cheryl L., Song, Howard K., Bavaria, Joseph E., Milewski, Karianna, Weinsaft, Jonathan W., McDonnell, Nazli, Asch, Federico M., Tolunay, H. Eser, Desvigne‐Nickens, Patrice, Tseng, Hung, Kroner, Barbara L.
Publicado 2016