Resultados de búsqueda - Argelia Medeiros‐Domingo

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  1. 1
    Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series

    Unexplained Drownings and the Cardiac Channelopathies: A Molecular Autopsy Series por David J. Tester, Argelia Medeiros‐Domingo, Melissa L. Will, Michael J. Ackerman

    Publicado 2011
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  2. 2
    Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability

    Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability por Beatrice Bianchi, Lijo Cherian Ozhathil, Argelia Medeiros‐Domingo, Michael H. Gollob, Hugues Abriel

    Publicado 2018
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  3. 3
    Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

    Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing por David J. Tester, Argelia Medeiros‐Domingo, Melissa L. Will, Carla M. Haglund, Michael J. Ackerman

    Publicado 2012
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  4. 4
    Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

    Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases por Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bärtsch, Argelia Medeiros‐Domingo, Wolfgang Berger, Cordula Haas

    Publicado 2017
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  5. 5
    Loss-of-Function Mutations in the <i>KCNJ8</i> -Encoded Kir6.1 K <sub>ATP</sub> Channel and Sudden Infant Death Syndrome

    Loss-of-Function Mutations in the <i>KCNJ8</i> -Encoded Kir6.1 K <sub>ATP</sub> Channel and Sudden Infant Death Syndrome por David J. Tester, Bi-Hua Tan, Argelia Medeiros‐Domingo, Chunhua Song, Jonathan C. Makielski, Michael J. Ackerman

    Publicado 2011
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  6. 6
    Loss-of-function mutation of the SCN3B-encoded sodium channel 3 subunit associated with a case of idiopathic ventricular fibrillation

    Loss-of-function mutation of the SCN3B-encoded sodium channel 3 subunit associated with a case of idiopathic ventricular fibrillation por Carmen R. Valdivia, Argelia Medeiros‐Domingo, Bing Ye, W K Shen, Thimothy J Algiers, Michael J. Ackerman, Jonathan C. Makielski

    Publicado 2009
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  7. 7
    Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex

    Syntrophin mutation associated with long QT syndrome through activation of the nNOS–SCN5A macromolecular complex por Kazuo Ueda, Carmen R. Valdivia, Argelia Medeiros‐Domingo, David J. Tester, Matteo Vatta, Gianrico Farrugia, Michael J. Ackerman, Jonathan C. Makielski

    Publicado 2008
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  8. 8
    Sudden infant death syndrome–associated mutations in the sodium channel beta subunits

    Sudden infant death syndrome–associated mutations in the sodium channel beta subunits por Bi-Hua Tan, Kavitha N. Pundi, David W. Van Norstrand, Carmen R. Valdivia, David J. Tester, Argelia Medeiros‐Domingo, Jonathan C. Makielski, Michael J. Ackerman

    Publicado 2010
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  9. 9
    Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outcome

    Sex hormones affect outcome in arrhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived cardiomyocyte-based model to clinical biomarkers of disease outco... por Deniz Akdiş, Ardan M. Saguner, Khooshbu Shah, Chuanyu Wei, Argelia Medeiros‐Domingo, Arnold von Eckardstein, Thomas F. Lüscher, Corinna Brunckhorst, H.S. Vincent Chen, Fırat Duru

    Publicado 2017
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  10. 10
    The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

    The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative,... por Argelia Medeiros‐Domingo, Zahurul A. Bhuiyan, David J. Tester, Nynke Hofman, Hennie Bikker, J. Peter van Tintelen, Marcel M.A.M. Mannens, Arthur A.M. Wilde, Michael J. Ackerman

    Publicado 2009
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  11. 11
    Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

    Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing por Lia Crotti, Cherisse A. Marcou, David J. Tester, Silvia Castelletti, John R. Giudicessi, Margherita Torchio, Argelia Medeiros‐Domingo, Simone Savastano, Melissa L. Will, Federica Dagradi, Peter J. Schwartz, Michael J. Ackerman

    Publicado 2012
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  12. 12
    α1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current

    α1-Syntrophin Mutations Identified in Sudden Infant Death Syndrome Cause an Increase in Late Cardiac Sodium Current por Jianding Cheng, David W. Van Norstrand, Argelia Medeiros‐Domingo, Carmen R. Valdivia, Bi‐Hua Tan, Bin Ye, Stacie Kroboth, Matteo Vatta, David J. Tester, Craig T. January, Jonathan C. Makielski, Michael J. Ackerman

    Publicado 2009
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  13. 13
    <i>SCN4B</i> -Encoded Sodium Channel β4 Subunit in Congenital Long-QT Syndrome

    <i>SCN4B</i> -Encoded Sodium Channel β4 Subunit in Congenital Long-QT Syndrome por Argelia Medeiros‐Domingo, Toshihiko Kaku, David J. Tester, Pedro Iturralde-Torres, Ajit Itty, Bin Ye, Carmen R. Valdivia, Kazuo Ueda, Samuel Canizales‐Quinteros, Marı́a Teresa Tusié-Luna, Jonathan C. Makielski, Michael J. Ackerman

    Publicado 2007
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  14. 14
    Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

    Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes por Argelia Medeiros‐Domingo, Bi-Hua Tan, Lia Crotti, David J. Tester, Lee L. Eckhardt, Alessandra Cuoretti, Stacie Kroboth, Chunhua Song, Qing Zhou, Doug Kopp, Peter J. Schwartz, Jonathan C. Makielski, Michael J. Ackerman

    Publicado 2010
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  15. 15
    Different Prognostic Value of Functional Right Ventricular Parameters in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

    Different Prognostic Value of Functional Right Ventricular Parameters in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia por Ardan M. Saguner, Alessandra Vecchiati, Samuel H. Baldinger, Sina Rüeger, Argelia Medeiros‐Domingo, Andreas S. Mueller-Burri, Laurent Haegeli, Patric Biaggi, Robert Manka, Thomas F. Lüscher, G Fontaine, Etienne Delacrétaz, Rolf Jenni, Leonhard Held, Corinna Brunckhorst, Fırat Duru, Felix C. Tanner

    Publicado 2014
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  16. 16
    A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na 1.5 and K 4.3 channel currents

    A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na 1.5 and K 4.3 channel currents por Dan Hu, Hector Barajas‐Martínez, Argelia Medeiros‐Domingo, Lia Crotti, Christian Veltmann, Rainer Schimpf, Janire Urrutia, Aintzane Alday, Óscar Casis, Ryan Pfeiffer, Elena Burashnikov, Gabriel Cáceres, David J. Tester, Christian Wolpert, Martin Borggrefe, Peter J. Schwartz, Michael J. Ackerman, Charles Antzelevitch

    Publicado 2011
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  17. 17
    Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach

    Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach por Matthias Wilhelm, Stephan A. Bolliger, Christine Bärtsch, Siv Fokstuen, Christoph Gräni, Viktor Martos, Argelia Medeiros‐Domingo, Antonio Marco Maria Osculati, Claudine Rieubland, Sara Sabatasso, Ardan M. Saguner, Christian Schyma, Joëlle Tschui, D. Wyler, Zahurul A. Bhuiyan, Florence Fellmann, Katarzyna Michaud

    Publicado 2015
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  18. 18
    An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

    An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis por Diptendu Chatterjee, Meena Fatah, Deniz Akdiş, Danna Spears, Tamara T. Koopmann, Kirti Mittal, Muhammad Rafiq, B.M. Cattanach, Qili Zhao, Jeff S. Healey, Michael J. Ackerman, J. Martijn Bos, Yu Sun, Jason T. Maynes, Corinna Brunckhorst, Argelia Medeiros‐Domingo, Fırat Duru, Ardan M. Saguner, Robert M. Hamilton

    Publicado 2018
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  19. 19
    Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease

    Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease por Babken Asatryan, André Schaller, Jens Seiler, Helge Servatius, Fabian Noti, Samuel H. Baldinger, Hildegard Tanner, Laurent Roten, Roger Dillier, Anna Lam, Andreas Haeberlin, Giulio Conte, Ardan M. Saguner, Stephan Müller, Fırat Duru, Angelo Auricchio, Peter Ammann, Christian Sticherling, Haran Burri, Tobias Reichlin, Matthias Wilhelm, Argelia Medeiros‐Domingo

    Publicado 2019
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  20. 20
    International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

    International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework por Cynthia A. James, Jan D.H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros‐Domingo, Brittney Murray, Julia Cadrin‐Tourigny, Ronald H. Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen

    Publicado 2021
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