Search Results - 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 by Bruce D. Gelb, Amy E. Roberts, Marco Tartaglia

    Published 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 by Elizabeth I. Pierpont, Erica Tworog‐Dube, Amy E. Roberts

    Published 2014
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  3. 3
    Noonan syndrome

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

    Published 2013
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  4. 4
    Heart Failure in Congenital Heart Disease

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

    Published 2013
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  5. 5
    Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification

    Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification by Daniel Quiat, Leora Witkowski, Hana Zouk, Kevin P. Daly, Amy E. Roberts

    Published 2020
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  6. 6
    Genotype differences in cognitive functioning in Noonan syndrome

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

    Published 2008
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  7. 7
    Cardiovascular disease in Noonan syndrome

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

    Published 2014
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  8. 8
    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... by Fabrice Jaffré, Clint L. Miller, Anne Schänzer, Todd Evans, Amy E. Roberts, Andreas Hahn, Maria I. Kontaridis

    Published 2019
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  9. 9
    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 by Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog‐Dube, Katherine A. Rauen, Mark S. Seidenberg

    Published 2010
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  10. 10
    The cardiofaciocutaneous syndrome

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

    Published 2006
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  11. 11
    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 by Elizabeth I. Pierpont, Daniel Kenney‐Jung, Ryan Shanley, Abigail L Zatkalik, Ashley E. Whitmarsh, Samuel J. Kroening, Amy E. Roberts, Martin Zenker

    Published 2022
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  12. 12
    Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

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

    Published 2008
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  13. 13
    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 by 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

    Published 2010
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  14. 14
    TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

    TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome by 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

    Published 2008
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  15. 15
    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 by 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

    Published 2015
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  16. 16
    Hypertrophic Cardiomyopathy in RASopathies

    Hypertrophic Cardiomyopathy in RASopathies by 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

    Published 2021
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  17. 17
    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 by 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

    Published 2014
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  18. 18
    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 by 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

    Published 2018
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  19. 19
    Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

    Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines by 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

    Published 2023
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  20. 20
    Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

    Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines by 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

    Published 2014
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