检索结果 - Amy E. Roberts

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  1. 1
    Cardiomyopathies in Noonan syndrome and the other RASopathies

    Cardiomyopathies in Noonan syndrome and the other RASopathies 由 Bruce D. Gelb, Amy E. Roberts, Marco Tartaglia

    出版 2015
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  2. 2
    Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings

    Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings 由 Elizabeth I. Pierpont, Erica Tworog‐Dube, Amy E. Roberts

    出版 2014
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  3. 3
    Noonan syndrome

    Noonan syndrome 由 Amy E. Roberts, Judith Allanson, Marco Tartaglia, Bruce D. Gelb

    出版 2013
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  4. 4
    Heart Failure in Congenital Heart Disease

    Heart Failure in Congenital Heart Disease 由 Akl C. Fahed, Amy E. Roberts, Seema Mital, Neal K. Lakdawala

    出版 2013
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  5. 5
    Genotype differences in cognitive functioning in Noonan syndrome

    Genotype differences in cognitive functioning in Noonan syndrome 由 Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog‐Dube, Mark S. Seidenberg

    出版 2008
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  6. 6
    Cardiovascular disease in Noonan syndrome

    Cardiovascular disease in Noonan syndrome 由 Terence Prendiville, K. Gauvreau, Erica Tworog‐Dube, L. Patkin, Raju Kucherlapati, Amy E. Roberts, Ronald V. Lacro

    出版 2014
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  7. 7
    Inducible Pluripotent Stem Cell–Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in <i>RAF1</i> -Associated Noonan Syndrome

    Inducible Pluripotent Stem Cell–Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Prom... 由 Fabrice Jaffré, Clint L. Miller, Anne Schänzer, Todd Evans, Amy E. Roberts, Andreas Hahn, Maria I. Kontaridis

    出版 2019
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  8. 8
    Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome

    Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome 由 Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog‐Dube, Katherine A. Rauen, Mark S. Seidenberg

    出版 2010
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  9. 9
    The cardiofaciocutaneous syndrome

    The cardiofaciocutaneous syndrome 由 Amy E. Roberts, Judith Allanson, Suzanne K. Jadico, Maria Inês Kavamura, Jacqueline A. Noonan, John M. Opitz, Terry‐Lynn Young, Giovanni Neri

    出版 2006
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  10. 10
    Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study

    Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study 由 Elizabeth I. Pierpont, Daniel Kenney‐Jung, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh, Samuel J. Kroening, Amy E. Roberts, Martin Zenker

    出版 2022
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  11. 11
    Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

    Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults 由 Hiroyuki Morita, Heidi L. Rehm, Andres Menesses, Barbara McDonough, Amy E. Roberts, Raju Kucherlapati, Jeffrey A. Towbin, Jonathan G. Seidman, Christine E. Seidman

    出版 2008
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  12. 12
    Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation

    Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation 由 Peng‐Chieh Chen, Hiroko Wakimoto, David A. Conner, Toshiyuki Araki, Tao Yuan, Amy E. Roberts, Christine E. Seidman, Roderick T. Bronson, Benjamin G. Neel, Jonathan G. Seidman, Raju Kucherlapati

    出版 2010
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  13. 13
    TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

    TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome 由 Jeff M. Milunsky, Tom A. Maher, Geping Zhao, Amy E. Roberts, Heather J. Stalker, Roberto T. Zori, Michelle N. Burch, Michele Clemens, John B. Mulliken, Rosemarie Smith, Angela E. Lin

    出版 2008
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  14. 14
    Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure

    Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure 由 David C. Bellinger, Christopher G. Watson, Michael J. Rivkin, Richard L. Robertson, Amy E. Roberts, Christian Stopp, Carolyn Dunbar‐Masterson, Dana Bernson, David R. DeMaso, David Wypij, Jane W. Newburger

    出版 2015
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  15. 15
    Hypertrophic Cardiomyopathy in RASopathies

    Hypertrophic Cardiomyopathy in RASopathies 由 Michele Lioncino, Emanuele Monda, Federica Verrillo, Elisabetta Moscarella, Giulio Calcagni, Fabrizio Drago, Bruno Marino, M. Cristina Digilio, Carolina Putotto, Paolo Calabrò, Maria Giovanna Russo, Amy E. Roberts, Bruce D. Gelb, Marco Tartaglia, Giuseppe Limongelli

    出版 2021
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  16. 16
    Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

    Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield 由 Juan Geng, Jonathan Picker, Zhaojing Zheng, Xiaoqing Zhang, Jian Wang, Fuki M. Hisama, David W. Brown, Mary P. Mullen, David J. Harris, Joan M. Stoler, Ann Seman, David T. Miller, Qihua Fu, Amy E. Roberts, Yiping Shen

    出版 2014
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  17. 17
    Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

    Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association 由 Mary Ella Pierpont, Martina Brueckner, Wendy K. Chung, Vidu Garg, Ronald V. Lacro, Amy L. McGuire, Seema Mital, James R. Priest, William T. Pu, Amy E. Roberts, Stephanie M. Ware, Bruce D. Gelb, Mark W. Russell

    出版 2018
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  18. 18
    Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

    Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines 由 Emanuele Monda, Aaron R. Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan J. Beattie, Marco Tartaglia, Maria Giovanna Russo, Steven D. Colan, Giulio Calcagni, Bruce D. Gelb, Juan Pablo Kaski, Amy E. Roberts, Giuseppe Limongelli

    出版 2023
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  19. 19
    Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines 由 Mary Ella Pierpont, Pilar Magoulas, Saleh Adi, Maria Inês Kavamura, Giovanni Neri, Jacqueline A. Noonan, Elizabeth I. Pierpont, Kent A. Reinker, Amy E. Roberts, Suma P. Shankar, Joseph Sullivan, Melinda Wolford, Brenda A. Conger, Molly Santa Cruz, Katherine A. Rauen

    出版 2014
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  20. 20
    Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents

    Phenotypic Manifestations of Arrhythmogenic Cardiomyopathy in Children and Adolescents 由 Elizabeth S. DeWitt, Stephanie F. Chandler, Robyn J. Hylind, Virginie Beauséjour Ladouceur, Elizabeth D. Blume, Christina VanderPluym, Andrew J. Powell, Francis Fynn‐Thompson, Amy E. Roberts, Stephen P. Sanders, Vassilios J. Bezzerides, Neal K. Lakdawala, Calum A. MacRae, Dominic J. Abrams

    出版 2019
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