Risultati della ricerca - Tamara T. Koopmann

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  1. 1
    Common Sodium Channel Promoter Haplotype in Asian Subjects Underlies Variability in Cardiac Conduction

    Common Sodium Channel Promoter Haplotype in Asian Subjects Underlies Variability in Cardiac Conduction di Connie R. Bezzina, Wataru Shimizu, Ping Yang, Tamara T. Koopmann, Michael W.T. Tanck, Yoshihiro Miyamoto, Shiro Kamakura, Dan M. Roden, Arthur A.M. Wilde

    Pubblicazione 2006
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  2. 2
    The hemoglobinopathies, molecular disease mechanisms and diagnostics

    The hemoglobinopathies, molecular disease mechanisms and diagnostics di Cornelis L. Harteveld, Ahlem Achour, Sandra J. G. Arkesteijn, Jeanet ter Huurne, Maaike Verschuren, Sharda Bhagwandien‐Bisoen, Rianne Schaap, Linda Vijfhuizen, Hakima el Idrissi, Tamara T. Koopmann

    Pubblicazione 2022
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  3. 3
    A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype

    A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype di Dan Hu, Hector Barajas‐Martínez, Elena Burashnikov, Michael Springer, Yuesheng Wu, András Varró, Ryan Pfeiffer, Tamara T. Koopmann, Jonathan M. Cordeiro, Alejandra Guerchicoff, Guido D. Pollevick, Charles Antzelevitch

    Pubblicazione 2009
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  4. 4
    Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

    Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation di Mariëlle Alders, Tamara T. Koopmann, Imke Christiaans, Pieter G. Postema, Leander Beekman, Michael W.T. Tanck, Katja Zeppenfeld, Peter Loh, Karel T. Koch, Sophie Demolombe, Marcel M.A.M. Mannens, Connie R. Bezzina, Arthur A.M. Wilde

    Pubblicazione 2009
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  5. 5
    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

    From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care di Maayke A. de Koning, Monique C. Haak, P. N. Adama van Scheltema, Cacha Peeters‐Scholte, Tamara T. Koopmann, Esther Nibbeling, Emmelien Aten, Nicolette S. den Hollander, Claudia Ruivenkamp, Mariëtte J.V. Hoffer, Gijs W.E. Santen

    Pubblicazione 2019
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  6. 6
    Reduced kinase function in two ultra‐rare <scp><i>TNNI3K</i></scp> variants in families with congenital junctional ectopic tachycardia

    Reduced kinase function in two ultra‐rare <scp><i>TNNI3K</i></scp> variants in families with congenital junctional ectopic tachycardia di Caroline Pham, Tamara T. Koopmann, Jeffrey M. Vinocur, Nico A. Blom, Vivian Nogueira Silbiger, Kirti Mittal, Marianne Bootsma, Kaylin C. A. Palm, Sally‐Ann B. Clur, Daniela Q.C.M. Barge‐Schaapveld, Robert M. Hamilton, Elisabeth M. Lodder

    Pubblicazione 2024
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  7. 7
    Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart

    Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart di Tamara T. Koopmann, Michiel Adriaens, Perry D. Moerland, Roos F. Marsman, Marinda Westerveld, Sean Lal, Taifang Zhang, Christine Q. Simmons, István Baczkó, Cristobal G. dos Remedios, Nanette H. Bishopric, András Varró, Alfred L. George, Elisabeth M. Lodder, Connie R. Bezzina

    Pubblicazione 2014
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  8. 8
    Unique Cardiac Purkinje Fiber Transient Outward Current β-Subunit Composition

    Unique Cardiac Purkinje Fiber Transient Outward Current β-Subunit Composition di Ling Xiao, Tamara T. Koopmann, Balázs Ördög, Pieter G. Postema, Arie O. Verkerk, Vivek Iyer, Kevin J. Sampson, Gerard J.J. Boink, Maya Mamarbachi, András Varró, Luc Jordaens, Jan Res, Robert S. Kass, Arthur A. Wilde, Connie R. Bezzina, Stanley Nattel

    Pubblicazione 2013
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  9. 9
    An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

    An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis di 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

    Pubblicazione 2018
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  10. 10
    Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

    Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans di Hiroshi Watanabe, Tamara T. Koopmann, Solena Le Scouarnec, Tao Yang, Christiana R. Ingram, Jean‐Jacques Schott, Sophie Demolombe, Vincent Probst, Frédéric Anselme, Denis Escande, Ans C.P. Wiesfeld, Arne Pfeufer, Stefan Kääb, Hans Wichmann, Can Hasdemir, Yoshifusa Aizawa, Arthur A.M. Wilde, Dan M. Roden, Connie R. Bezzina

    Pubblicazione 2008
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  11. 11
    Right Ventricular Fibrosis and Conduction Delay in a Patient With Clinical Signs of Brugada Syndrome

    Right Ventricular Fibrosis and Conduction Delay in a Patient With Clinical Signs of Brugada Syndrome di Ruben Coronel, Simona Casini, Tamara T. Koopmann, Francien J. G. Wilms-Schopman, Arie O. Verkerk, Joris R. de Groot, Zahurul A. Bhuiyan, Connie R. Bezzina, Marieke W. Veldkamp, André C. Linnenbank, Allard C. van der Wal, Hanno L. Tan, Pedro Brugada, Arthur A.M. Wilde, Jacques M.T. de Bakker

    Pubblicazione 2005
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  12. 12
    Coxsackie and Adenovirus Receptor Is a Modifier of Cardiac Conduction and Arrhythmia Vulnerability in the Setting of Myocardial Ischemia

    Coxsackie and Adenovirus Receptor Is a Modifier of Cardiac Conduction and Arrhythmia Vulnerability in the Setting of Myocardial Ischemia di Roos F. Marsman, Connie R. Bezzina, Fabian Freiberg, Arie O. Verkerk, Michiel Adriaens, Svitlana Podliesna, Chen Chen, Bettina Purfürst, Bastian Spallek, Tamara T. Koopmann, István Baczkó, Cristobal G. dos Remedios, Alfred L. George, Nanette H. Bishopric, Elisabeth M. Lodder, Jacques M.T. de Bakker, Robert Fischer, Ruben Coronel, Arthur A.M. Wilde, Michael Gotthardt, Carol Ann Remme

    Pubblicazione 2013
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  13. 13
    A common genetic variant within SCN10A modulates cardiac SCN5A expression

    A common genetic variant within SCN10A modulates cardiac SCN5A expression di Malou van den Boogaard, Scott Smemo, Ozanna Burnicka-Turek, David E. Arnolds, Harmen J.G. van de Werken, Petra Klous, David McKean, Jochen D. Muehlschlegel, Julia Moosmann, Okan Toka, Xinan Yang, Tamara T. Koopmann, Michiel Adriaens, Connie R. Bezzina, Wouter de Laat, Christine E. Seidman, J.G. Seidman, Vincent M. Christoffels, Marcelo A. Nóbrega, Phil Barnett, Ivan P. Moskowitz

    Pubblicazione 2014
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  14. 14
    Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

    Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2 di I. Kolder, Michael W.T. Tanck, Pieter G. Postema, Julien Barc, Moritz F. Sinner, Sven Zumhagen, Anja Husemann, Birgit Stallmeyer, Tamara T. Koopmann, Nynke Hofman, Arne Pfeufer, Peter Lichtner, Thomas Meitinger, Britt Maria Beckmann, Robert J. Myerburg, Nanette H. Bishopric, Dan M. Roden, Stefan Kääb, Arthur A.M. Wilde, Jean‐Jacques Schott, Eric Schulze‐Bahr, Connie R. Bezzina

    Pubblicazione 2015
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  15. 15
    An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

    An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing di Jamie D. Kapplinger, David J. Tester, Mariëlle Alders, Begoña Benito, Myriam Berthet, Josép Brugada, Pedro Brugada, Véronique Fressart, Alejandra Guerchicoff, Carole Harris‐Kerr, Shiro Kamakura, Florence Kyndt, Tamara T. Koopmann, Yoshihiro Miyamoto, Ryan Pfeiffer, Guido D. Pollevick, Vincent Probst, Sven Zumhagen, Matteo Vatta, Jeffrey A. Towbin, Wataru Shimizu, Eric Schulze‐Bahr, Charles Antzelevitch, Benjamin A. Salisbury, Pascale Guicheney, Arthur A.M. Wilde, Ramón Brugada, Jean‐Jacques Schott, Michael J. Ackerman

    Pubblicazione 2009
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  16. 16
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders di Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Pubblicazione 2022
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  17. 17
    P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

    P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL di Coralea Stephanou, C, Petros Kountouris, P, Carsten W Lederer, C, Celeste Bento, C, Cornelis L Hartveld, C, Jan Traeger-Synodinos, J, John S Waye, J, Zhiyu Peng, Z, Irene Fylaktou, I, Hashim Halim-Fikri, H, Tamara T. Koopmann, T, Landry Nfonsam, L, Jun Sun, J, Franck Nzengu-Lukusa, F, Michael Angastiniotis, M, Catherine Badens, C, Bertha Ibarra Cortes, B, Johan T. den Dunnen, J, Jacques Elion, J, Suthat Fucharoen, S, Kyriaki Michailidou, K, Thessalia Papasavva, T, Antonio Piga, A, Raj Ramesar, R, Swee Lay Thein, S, Léon Tshilolo, L, Zilfalil Bin Alwi, Z, Marina Kleanthous, M

    Pubblicazione 2022
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  18. 18
    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 di Heather J. Cordell, Jamie Bentham, Ana Töpf, Diana Zélénika, Simon Heath, Chrysovalanto Mamasoula, Catherine Cosgrove, Gillian M. Blue, Javier T Granados-Riveron, Kerry Setchfield, Chris Thornborough, Jeroen Breckpot, Rachel Soemedi, Ruairidh Martin, Thahira Rahman, Darroch Hall, Klaartje van Engelen, Antoon F.M. Moorman, A. H. Zwinderman, Phil Barnett, Tamara T. Koopmann, Michiel Adriaens, András Varró, Alfred L. George, C. Dos Remedios, Nanette H. Bishopric, Connie R. Bezzina, John O’Sullivan, Marc Gewillig, Frances Bu’Lock, David S. Winlaw, Shoumo Bhattacharya, Koenraad Devriendt, J. David Brook, Barbara J.M. Mulder, Seema Mital, Alex V. Postma, G.M. Lathrop, Martin Farrall, Judith A. Goodship, Bernard Keavney

    Pubblicazione 2013
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  19. 19
    Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

    Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy di Jason D. Roberts, Nathaniel P. Murphy, Robert M. Hamilton, Ellen R. Lubbers, Cynthia A. James, Crystal F. Kline, Michael H. Gollob, Andrew D. Krahn, Amy C. Sturm, Hassan Musa, Mona El Refaey, Sara N. Koenig, Meriam Åström Aneq, Edgar T. Hoorntje, Sharon Graw, Robert Davies, Muhammad Rafiq, Tamara T. Koopmann, Shabana Aafaqi, Meena Fatah, David A. Chiasson, Matthew R.G. Taylor, Samantha L. Simmons, Mei Han, Chantal J.M. van Opbergen, Loren E. Wold, Gianfranco Sinagra, Kirti Mittal, Crystal Tichnell, Brittney Murray, Alberto Codima, Babak Nazer, Duy T. Nguyen, Gregory M. Marcus, Nara Sobriera, Elisabeth M. Lodder, Maarten P. van den Berg, Danna Spears, John F. Robinson, Philip C. Ursell, Anna K. Green, Allan C. Skanes, Anthony Tang, Martin J. Gardner, Robert A. Hegele, Toon A.B. van Veen, Arthur A.M. Wilde, Jeff S. Healey, Paul M.L. Janssen, Luisa Mestroni, J. Peter van Tintelen, Hugh Calkins, Daniel P. Judge, Thomas J. Hund, Melvin M. Scheinman, Peter J. Mohler

    Pubblicazione 2019
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  20. 20
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization di Dan E. Arking, Sara L. Pulit, Lia Crotti, Pim van der Harst, Patricia B. Munroe, Tamara T. Koopmann, Nona Sotoodehnia, Elizabeth J. Rossin, Michael P. Morley, Xinchen Wang, Andrew D. Johnson, Alicia Lundby, Daníel F. Guðbjartsson, Peter A. Noseworthy, Mark Eijgelsheim, Yuki Bradford, Kirill V. Tarasov, Marcus Dörr, Martina Müller‐Nurasyid, Annukka M. Lahtinen, Ilja M. Nolte, Albert V. Smith, Joshua C. Bis, Aaron Isaacs, Stephen Newhouse, Daniel S. Evans, Wendy S. Post, Daryl Waggott, Leo‐Pekka Lyytikäinen, Andrew A. Hicks, Lewin Eisele, David Ellinghaus, Caroline Hayward, Pau Navarro, Sheila Ulivi, Toshiko Tanaka, David J. Tester, Stéphanie Chatel, Stefan Gustafsson, Meena Kumari, Richard Morris, Åsa Torinsson Naluai, Sandosh Padmanabhan, Alexander Kluttig, Bernhard Strohmer, Andrie G. Panayiotou, María Torres, Michael Knoflach, Jaroslav A. Hubáček, Kamil Slowikowski, Soumya Raychaudhuri, Runjun D. Kumar, Tamara B. Harris, Lenore J. Launer, Alan R. Shuldiner, Álvaro Alonso, Joel S. Bader, Georg Ehret, Hailiang Huang, W.H. Linda Kao, James B. Strait, Peter W. Macfarlane, Matthew A. Brown, Mark J. Caulfield, Nilesh J. Samani, Florian Kronenberg, Johann Willeit, J. Gustav Smith, Karin Halina Greiser, Henriette E. Meyer zu Schwabedissen, Karl Werdan, Massimo Carella, Leopoldo Zelante, Susan R. Heckbert, Bruce M. Psaty, Jerome I. Rotter, Ivana Kolčić, Ozren Polašek, Alan F. Wright, Maura Griffin, Mark J. Daly, Davíð O. Arnar, Hilma Hólm, Unnur Þorsteinsdóttir, Joshua C. Denny, Dan M. Roden, Rebecca L. Zuvich, Valur Emilsson, Andrew Plump, Martin G. Larson, Christopher J. O’Donnell, Xiaoyan Yin, Marco Bobbo, Pio D’Adamo, Alfonso Iorio, Gianfranco Sinagra, Ángel Carracedo, Steven R. Cummings, Michael A. Nalls, Antti Jula

    Pubblicazione 2014
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