Hakutulokset - Elizabeth Sparks

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  1. 1
    The marfan syndrome: Abnormal aortic elastic properties

    The marfan syndrome: Abnormal aortic elastic properties Tekijä Kazuhito Hirata, Filippos Triposkiadis, Elizabeth Sparks, Juan Bowen, Charles F. Wooley, Harisios Boudoulas

    Julkaistu 1991
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  2. 2
    Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

    Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy Tekijä Michael Arad, D. Woodrow Benson, Antonio R. Pérez‐Atayde, William J. McKenna, Elizabeth Sparks, Ronald J. Kanter, Kate McGarry, Jonathan G. Seidman, Christine E. Seidman

    Julkaistu 2002
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  3. 3
    Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

    Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy Tekijä Michael Arad, D. Woodrow Benson, Antonio R. Pérez‐Atayde, William J. McKenna, Elizabeth Sparks, Ronald J. Kanter, Kate McGarry, Jonathan G. Seidman, Christine E. Seidman

    Julkaistu 2002
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  4. 4
    Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy

    Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated Cardiomyopathy Tekijä Neal K. Lakdawala, Jens Jakob Thune, Steven D. Colan, Allison L. Cirino, Faranak Farrohi, Jose Rivero, Barbara McDonough, Elizabeth Sparks, E. John Orav, Jonathan G. Seidman, Christine E. Seidman, Carolyn Y. Ho

    Julkaistu 2012
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  5. 5
    Mutations in Transforming Growth Factor-β Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections

    Mutations in Transforming Growth Factor-β Receptor Type II Cause Familial Thoracic Aortic Aneurysms and Dissections Tekijä Hariyadarshi Pannu, Van Tran Fadulu, Jessica Chang, Andrea L. Lafont, Sumera N. Hasham, Elizabeth Sparks, Philip F. Giampietro, Christina Zaleski, Anthony L. Estrera, Hazim J. Safi, Sanjay Shete, Marcia Willing, C.S. Raman, Dianna M. Milewicz

    Julkaistu 2005
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  6. 6
    Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers

    Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers Tekijä Carolyn Y. Ho, Neal K. Lakdawala, Allison L. Cirino, Steven E. Lipshultz, Elizabeth Sparks, Siddique Abbasi, Raymond Y. Kwong, Elliott M. Antman, Christopher Semsarian, Arantxa González, Begoña López, Javier Dı́ez, E. John Orav, Steven D. Colan, Christine E. Seidman

    Julkaistu 2014
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  7. 7
    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation

    Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation Tekijä Neal K. Lakdawala, Lisa Dellefave, Charles Redwood, Elizabeth Sparks, Allison L. Cirino, Steven R. DePalma, Steven D. Colan, Birgit Funke, Rebekah Zimmerman, Paul Robinson, Hugh Watkins, Christine E. Seidman, Jonathan G. Seidman, Elizabeth M. McNally, Carolyn Y. Ho

    Julkaistu 2010
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  8. 8
    Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

    Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation Tekijä Adam J. Saltzman, Debora Mancini‐DiNardo, Chumei Li, Wendy K. Chung, Carolyn Y. Ho, Stephanie Hurst, Julia Wynn, Melanie Care, Robert M. Hamilton, Gregor W. Seidman, Joshua M. Gorham, Barbara McDonough, Elizabeth Sparks, Jonathan G. Seidman, Christine E. Seidman, Heidi L. Rehm

    Julkaistu 2010
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  9. 9
    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome Tekijä Dorien Schepers, Alexander Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J. Willems, Sahar Mansour, Michael A. Simpson, Helena Frysira, Anneke Maat‐Kievit, Rick van Minkelen, Jeanette Hoogeboom, Geert Mortier, Hannah Titheradge, Louise Brueton, Lois J. Starr, Zornitza Stark, Charlotte W. Ockeloen, Charles Marques Lourenço, Ed Blair, Emma Hobson, Jane A. Hurst, Isabelle Maystadt, Anne Destrèe, Katta M. Girisha, Michelle S. Miller, Harry C. Dietz, Bart Loeys, Lut Van Laer

    Julkaistu 2014
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  10. 10
    Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

    Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease Tekijä Dong-Chuan Guo, Christina L. Papke, Van Tran‐Fadulu, Ellen S. Regalado, Nili Avidan, Ralph J. Johnson, Dong Kim, Hariyadarshi Pannu, Marcia Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael Singh, Ronald L. Dalman, James C. Grotta, Ali J. Marian, Eric Boerwinkle, Lorraine 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 Yu, Sanjay Shete, Steven E. Scherer, C.S. Raman, L. Maximilian Buja, Dianna M. Milewicz

    Julkaistu 2009
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  11. 11
    Truncations of Titin Causing Dilated Cardiomyopathy

    Truncations of Titin Causing Dilated Cardiomyopathy Tekijä Daniel S. Herman, Lien Lam, Matthew R.G. Taylor, Libin Wang, Polakit Teekakirikul, Danos C. Christodoulou, Lauren Conner, Steven R. DePalma, Barbara McDonough, Elizabeth Sparks, Debbie Lin Teodorescu, Allison L. Cirino, Nicholas R. Banner, Dudley J. Pennell, Sharon Graw, Marco Merlo, Andrea Di Lenarda, Gianfranco Sinagra, J. Martijn Bos, Michael J. Ackerman, Richard N. Mitchell, Charles E. Murry, Neal K. Lakdawala, Carolyn Y. Ho, Paul J.R. Barton, Stuart A. Cook, Luisa Mestroni, Jonathan G. Seidman, Christine E. Seidman

    Julkaistu 2012
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  12. 12
    ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm

    ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm Tekijä Russell A. Gould, Hamza Aziz, Courtney E. Woods, Manuel Alejandro Seman-Senderos, Elizabeth Sparks, Christoph Preuß, Florian Wünnemann, Djahida Bedja, Cassandra Rae Moats, Sarah A. McClymont, Rebecca Rose, Nara Sobreira, Hua Ling, Gretchen MacCarrick, Ajay Kumar, Ilse Luyckx, Elyssa Cannaerts, Aline Verstraeten, Hanna Björk, Ann-Cathrin Lehsau, Vinod Jaskula-Ranga, Henrik Lauridsen, Asad A. Shah, Christopher Bennett, Patrick T. Ellinor, Honghuang Lin, Eric M. Isselbacher, Christian L. Lino Cardenas, Jonathan T. Butcher, G. Chad Hughes, Mark E. Lindsay, Luc Mertens, Anders Franco‐Cereceda, Judith M.A. Verhagen, Marja W. Wessels, Salah A. Mohamed, Per Eriksson, Seema Mital, Lut Van Laer, Bart Loeys, Grégor Andelfinger, Andrew S. McCallion, Harry C. Dietz

    Julkaistu 2018
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