Sökresultat - Ryan Pfeiffer
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Further Insights in the Most Common <i>SCN5A</i> Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect av Christian Veltmann, Hector Barajas‐Martínez, Christian Wolpert, Martin Borggrefe, Rainer Schimpf, Ryan Pfeiffer, Gabriel Cáceres, Elena Burashnikov, Charles Antzelevitch, Dan Hu
Publicerad 2016Artigo -
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A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype av 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
Publicerad 2009Artigo -
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Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome av Jonathan M. Cordeiro, Hector Barajas‐Martínez, Kui Hong, Elena Burashnikov, Ryan Pfeiffer, Anne-Marie Orsino, Yue Wu, Dan Hu, Josép Brugada, Pedro Brugada, Charles Antzelevitch, Robert Dumaine, Ramón Brugada
Publicerad 2006Artigo -
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A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis av Jessica A. Hennessey, Nicole J. Boczek, Yong-hui Jiang, Joelle D. Miller, William L. Patrick, Ryan Pfeiffer, Brittan Sutphin, David J. Tester, Hector Barajas‐Martínez, Michael J. Ackerman, Charles Antzelevitch, Ronald J. Kanter, Geoffrey S. Pitt
Publicerad 2014Artigo -
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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 av 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
Publicerad 2011Artigo -
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Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death av Charles Antzelevitch, Guido D. Pollevick, Jonathan M. Cordeiro, Óscar Casis, Michael C. Sanguinetti, Yoshiyasu Aizawa, Alejandra Guerchicoff, Ryan Pfeiffer, Antonio Oliva, Bernd Wollnik, Philip M. Gelber, Elias P. Bonaros, Elena Burashnikov, Yuesheng Wu, John D. Sargent, STEFAN SCHICKEL, Ralf Oberheiden, Atul Bhatia, LI‐FERN HSU, Michel Haı̈ssaguerre, Rainer Schimpf, Martin Borggrefe, Christian Wolpert
Publicerad 2007Artigo -
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ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene av Dan Hu, Hector Barajas‐Martínez, André Terzic, Sungjo Park, Ryan Pfeiffer, Elena Burashnikov, Yuesheng Wu, Martin Borggrefe, Christian Veltmann, Rainer Schimpf, John Cai, Gi-Byong Nam, Pramod Deshmukh, Melvin M. Scheinman, Mark W. Preminger, Jonathan S. Steinberg, Angélica López-Izquierdo, Daniela Ponce‐Balbuena, Christian Wolpert, Michel Haı̈ssaguerre, José A. Sánchez‐Chapula, Charles Antzelevitch
Publicerad 2014Artigo -
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Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death av Elena Burashnikov, Ryan Pfeiffer, Hector Barajas‐Martínez, Eva Delpón, Dan Hu, Mayurika Desai, Martin Borggrefe, Michel Haı̈ssaguerre, Ronald J. Kanter, Guido D. Pollevick, Alejandra Guerchicoff, R. Laino, Mark Marieb, Koonlawee Nademanee, Gi‐Byoung Nam, Roberto Monreal‐Robles, Rainer Schimpf, Dwight Stapleton, Sami Viskin, Stephen L. Winters, Christian Wolpert, Samuel H. Zimmern, Christian Veltmann, Charles Antzelevitch
Publicerad 2010Artigo -
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Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome av Dan Hu, Hector Barajas‐Martínez, Ryan Pfeiffer, Fabio Dezi, Jenna Pfeiffer, Thorsten Buch, Matthew J. Betzenhauser, Luiz Belardinelli, Kristopher M. Kahlig, Sridharan Rajamani, Harry DeAntonio, Robert J. Myerburg, Hiroyuki Ito, Pramod Deshmukh, Mark Marieb, Gi‐Byoung Nam, Atul Bhatia, Can Hasdemir, Michel Haı̈ssaguerre, Christian Veltmann, Rainer Schimpf, Martin Borggrefe, Sami Viskin, Charles Antzelevitch
Publicerad 2014Artigo -
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The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome av Dan Hu, Yang Li, Jiancheng Zhang, Ryan Pfeiffer, Michael H. Gollob, Jeff S. Healey, Daniel Toshio Harrell, Naomasa Makita, Haruhiko Abe, Yaxun Sun, Jihong Guo, Li Zhang, Gan‐Xin Yan, Douglas Y. Mah, Edward P. Walsh, Harris Leopold, Carla Giustetto, Fiorenzo Gaïta, Agnieszka Zienciuk‐Krajka, Andrea Mazzanti, Silvia G. Priori, Charles Antzelevitch, Hector Barajas‐Martínez
Publicerad 2017Artigo -
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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing av 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
Publicerad 2009Artigo -
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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome av Najim Lahrouchi, Rafik Tadros, Lia Crotti, Yuka Mizusawa, Pieter G. Postema, Leander Beekman, Roddy Walsh, Kanae Hasegawa, Julien Barc, Marko Ernsting, Kari L. Turkowski, Andrea Mazzanti, Britt M. Beckmann, Keiko Shimamoto, Ulla-Britt Diamant, Yanushi D. Wijeyeratne, Yu Kucho, Tomas Robyns, Taisuke Ishikawa, Elena Arbelo, Michael Christiansen, Annika Winbo, Reza Jabbari, Steven A. Lubitz, Johannes Steinfurt, Boris Rudic, Bart Loeys, Moore B. Shoemaker, Peter Weeke, Ryan Pfeiffer, Brianna Davies, Antoine Andorin, Nynke Hofman, Federica Dagradi, Matteo Pedrazzini, David J. Tester, J. Martijn Bos, Geòrgia Sarquella-Brugada, Òscar Campuzano, Pyotr G. Platonov, Birgit Stallmeyer, Sven Zumhagen, Eline A. Nannenberg, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Christopher E. Shaw, Pamela J. Shaw, Karen Morrison, Peter M. Andersen, Martina Müller‐Nurasyid, Daniele Cusi, Cristina Barlassina, Pilar Galán, Mark Lathrop, Markus Munter, Thomas Werge, Marta Ribasés, Tin Aung, Chiea Chuen Khor, Mineo Ozaki, Peter Lichtner, Thomas Meitinger, J. Peter van Tintelen, Yvonne M. Hoedemaekers, Isabelle Denjoy, Antoine Leenhardt, Carlo Napolitano, Wataru Shimizu, Jean‐Jacques Schott, Jean‐Baptiste Gourraud, Takeru Makiyama, Seiko Ohno, Hideki Itoh, Andrew D. Krahn, Charles Antzelevitch, Dan M. Roden, Johan Saenen, Martin Borggrefe, Katja E. Odening, Patrick T. Ellinor, Jacob Tfelt‐Hansen, Jonathan R. Skinner, Maarten P. van den Berg, Morten S. Olesen, Josép Brugada, Ramón Brugada, Naomasa Makita, Jeroen Breckpot, Masao Yoshinaga, Elijah R. Behr, Annika Rydberg, Takeshi Aiba, Stefan Kääb, Silvia G. Priori, Pascale Guicheney, Hanno L. Tan, Christopher Newton‐Cheh, Michael Ackerman, Peter J. Schwartz
Publicerad 2020Artigo
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Relaterade ämnen
Internal medicine
Medicine
Biology
Gene
Genetics
Mutation
Brugada syndrome
Proband
Chemistry
Long QT syndrome
QT interval
Cardiology
Organic chemistry
Sodium
Sodium channel
Calcium
Endocrinology
Missense mutation
Molecular biology
Ventricular fibrillation
Electrophysiology
Sudden cardiac death
Calcium channel
Electrocardiography
Genotype
Mutant
Phenotype
Repolarization
Sudden death
Ventricular tachycardia