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  • Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling
    Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R. Cordisco, Wendy K. Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Martorell, Juliette Mazereeuw-Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, Anne Dompmartin, David G. Brooks, Juliette Dupont, Maria A. González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Kwan Hanson-Kahn, Louanne Hudgins, Christine Léauté-Labrèze, Catherine McCuaig, Denise Metry, Philippe Parent, Carle Paul, Florence Petit, Alice Phan, Isabelle Quéré, Aicha Salhi, Anne M. Turner, Pierre Vabres, Asuncion Vicente, Orli Wargon, Shoji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon and Miikka Vikkula
    Circulation. 2017;CIRCULATIONAHA.116.026886, originally published July 7, 2017
    https://doi.org/10.1161/CIRCULATIONAHA.116.026886
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVEThe National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics. 2017;10:e001647, originally published June 9, 2017
    https://doi.org/10.1161/CIRCGENETICS.116.001647
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    View table
    Table 1.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Basis for Diagnosis of Marfan SyndromeShow More
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    View table
    Table 2.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Comparison of Phenotypic Features in Children and Adults With Marfan Syndrome*Show More
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    Figure 1.
    Figure 1.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Prevalences of aortic root dilatation, ectopia lentis, and pectus deformities according to tertiles of childhood age.Show More
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    Figure 2.
    Figure 2.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Prevalences of arachnodactyly, scoliosis, striae atrophicae, and mitral valve prolapse according to tertiles of childhood age.Show More
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    View table
    Table 3.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Comparison of Phenotypic Features in Males and Females With Marfan Syndrome*Show More
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    View table
    Table 4.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Comparison of Cardiovascular Complications in Adult Males and Females With Marfan Syndrome*Show More
  • Associations of Age and Sex With Marfan PhenotypeCLINICAL PERSPECTIVE
    Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song, Jonathan W. Weinsaft for the GenTAC Investigators*
    Circulation: Cardiovascular Genetics June 2017, 10 (3) e001647; DOI: https://doi.org/10.1161/CIRCGENETICS.116.001647
    Figure 3.
    Figure 3.
    By Mary J. Roman, Richard B. Devereux, Liliana R. Preiss, Federico M. Asch, Kim A. Eagle, Kathryn W. Holmes, Scott A. LeMaire, Cheryl L. Maslen, Dianna M. Milewicz, Shaine A. Morris, Siddharth K. Prakash, Reed E. Pyeritz, William J. Ravekes, Ralph V. Shohet, Howard K. Song and Jonathan W. Weinsaft
    Age distributions of prophylactic aortic surgery (A), mitral valve surgery (B...
    Show More
  • International Registry of Patients Carrying TGFBR1 or TGFBR2 MutationsCLINICAL PERSPECTIVEResults of the MAC (Montalcino Aortic Consortium)
    Guillaume Jondeau, Jacques Ropers, Ellen Regalado, Alan Braverman, Arturo Evangelista, Guisela Teixedo, Julie De Backer, Laura Muiño-Mosquera, Sophie Naudion, Cecile Zordan, Takayuki Morisaki, Hiroto Morisaki, Yskert Von Kodolitsch, Sophie Dupuis-Girod, Shaine A. Morris, Richmond Jeremy, Sylvie Odent, Leslie C. Adès, Madhura Bakshi, Katherine Holman, Scott LeMaire, Olivier Milleron, Maud Langeois, Myrtille Spentchian, Melodie Aubart, Catherine Boileau, Reed Pyeritz and Dianna M. Milewicz for the Montalcino Aortic Consortium
    Circulation: Cardiovascular Genetics. 2016;9:548-558, originally published November 21, 2016
    https://doi.org/10.1161/CIRCGENETICS.116.001485

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