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Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice.
Published in:
EP: Europace, 2024, v. 26, n. 6, p. 1, doi. 10.1093/europace/euae153
By:
- Marchal, Gerard A;
- Rivaud, Mathilde R;
- Wolswinkel, Rianne;
- Basso, Cristina;
- Veen, Toon A B van;
- Bezzina, Connie R;
- Remme, Carol Ann
Publication type:
Article
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Published in:
2022
By:
- Wilde, Arthur A M;
- Semsarian, Christopher;
- Márquez, Manlio F;
- Shamloo, Alireza Sepehri;
- Ackerman, Michael J;
- Ashley, Euan A;
- Sternick, Eduardo Back;
- Barajas-Martinez, Héctor;
- Behr, Elijah R;
- Bezzina, Connie R;
- Breckpot, Jeroen;
- Charron, Philippe;
- Chockalingam, Priya;
- Crotti, Lia;
- Gollob, Michael H;
- Lubitz, Steven;
- Makita, Naomasa;
- Ohno, Seiko;
- Ortiz-Genga, Martín;
- Sacilotto, Luciana
Publication type:
journal article
Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.
Published in:
2021
By:
- Steinfurt, Johannes;
- Bezzina, Connie R;
- Biermann, Jürgen;
- Staudacher, Dawid;
- Marschall, Christoph;
- Trolese, Luca;
- Faber, Thomas S;
- Duerschmied, Daniel;
- Zehender, Manfred;
- Bode, Christoph;
- Wilde, Arthur A M;
- Odening, Katja E;
- Lodder, Elisabeth M
Publication type:
journal article
Functional modulation of atrio-ventricular conduction by enhanced late sodium current and calcium-dependent mechanisms in Scn5a1798insD/+ mice.
Published in:
2020
By:
- Rivaud, Mathilde R;
- Marchal, Gerard A;
- Wolswinkel, Rianne;
- Jansen, John A;
- van der Made, Ingeborg;
- Beekman, Leander;
- Ruiz-Villalba, Adrián;
- Baartscheer, Antonius;
- Rajamani, Sridharan;
- Belardinelli, Luiz;
- Veen, Toon A B van;
- Basso, Cristina;
- Thiene, Gaetano;
- Creemers, Esther E;
- Bezzina, Connie R;
- Remme, Carol Ann;
- van Veen, Toon A B
Publication type:
journal article
Bioinformatic analysis of a plakophilin-2-dependent transcription network: implications for the mechanisms of arrhythmogenic right ventricular cardiomyopathy in humans and in boxer dogs.
Published in:
2018
By:
- Montnach, Jerome;
- Agullo-Pascual, Esperanza;
- Tadros, Rafik;
- Bezzina, Connie R;
- Delmar, Mario
Publication type:
journal article
Exploring the Relationship Between Schizophrenia and Cardiovascular Disease: A Genetic Correlation and Multivariable Mendelian Randomization Study.
Published in:
Schizophrenia Bulletin, 2022, v. 48, n. 2, p. 463, doi. 10.1093/schbul/sbab132
By:
- Veeneman, Rada R;
- Vermeulen, Jentien M;
- Abdellaoui, Abdel;
- Sanderson, Eleanor;
- Wootton, Robyn E;
- Tadros, Rafik;
- Bezzina, Connie R;
- Denys, Damiaan;
- Munafò, Marcus R;
- Verweij, Karin J H;
- Treur, Jorien L
Publication type:
Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2589, doi. 10.3390/ijms21072589
By:
- Knottnerus, Suzan J. G.;
- Mengarelli, Isabella;
- Wüst, Rob C. I.;
- Baartscheer, Antonius;
- Bleeker, Jeannette C.;
- Coronel, Ruben;
- Ferdinandusse, Sacha;
- Guan, Kaomei;
- IJlst, Lodewijk;
- Li, Wener;
- Luo, Xiaojing;
- Portero, Vincent M.;
- Ulbricht, Ying;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Verkerk, Arie O.;
- Houtkooper, Riekelt H.;
- Bezzina, Connie R.
Publication type:
Article
Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5033, doi. 10.3390/ijms20205033
By:
- Casini, Simona;
- Albesa, Maxime;
- Wang, Zizun;
- Portero, Vincent;
- Ross-Kaschitza, Daniela;
- Rougier, Jean-Sébastien;
- Marchal, Gerard A.;
- Chung, Wendy K.;
- Bezzina, Connie R.;
- Abriel, Hugues;
- Remme, Carol Ann
Publication type:
Article
Patch-Clamp Recording from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Improving Action Potential Characteristics through Dynamic Clamp.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 9, p. 1873, doi. 10.3390/ijms18091873
By:
- Zegers, Jan G.;
- Wilders, Ronald;
- Verkerk, Arie O.;
- Veerman, Christiaan C.;
- Mengarelli, Isabella;
- Bezzina, Connie R.
Publication type:
Article
A common genetic variant within SCN10A modulates cardiac SCN5A expression.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 4, p. 1844, doi. 10.1172/JCI73140
By:
- van den Boogaard, Malou;
- Smemo, Scott;
- Burnicka-Turek, Ozanna;
- Arnolds, David E.;
- van de Werken, Harmen J. G.;
- Klous, Petra;
- McKean, David;
- Muehlschlegel, Jochen D.;
- Moosmann, Julia;
- Okan Toka;
- Xinan H. Yang;
- Koopmann, Tamara T.;
- Adriaens, Michiel E.;
- Bezzina, Connie R.;
- de Laat, Wouter;
- Seidman, Christine;
- Seidman, J. G.;
- Christoffels, Vincent M.;
- Nobrega, Marcelo A.;
- Barnett, Phil
Publication type:
Article
Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 7, p. 2519, doi. 10.1172/JCI62613
By:
- van den Boogaard, Malou;
- Wong, L. Y. Elaine;
- Tessadori, Federico;
- Bakker, Martijn L.;
- Dreizehnter, Lisa K.;
- Wakker, Vincent;
- Bezzina, Connie R.;
- O't Hoen, Peter A. C.;
- Bakkers, Jeroen;
- Barnett, Phil;
- Christoffels, Vincent M.
Publication type:
Article
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.
Published in:
2008
By:
- Amin, Ahmad S.;
- Herfst, Lucas J.;
- Delisle, Brian P.;
- Klemens, Christine A.;
- Rook, Martin B.;
- Bezzina, Connie R.;
- Underkofler, Heather A.S.;
- Holzem, Katherine M.;
- Ruijter, Jan M.;
- Tan, Hanno L.;
- January, Craig T.;
- Wilde, Arthur A.M.
Publication type:
journal article
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
Published in:
2008
By:
- Watanabe, Hiroshi;
- Koopmann, Tamara T.;
- Le Scouarnec, Solena;
- Tao Yang;
- Ingram, Christiana R.;
- Schott, Jean-Jacques;
- Demolombe, Sophie;
- Probst, Vincent;
- Anselme, Frédéric;
- Escande, Denis;
- Wiesfeld, Ans C. P.;
- Pfeufer, Arne;
- Kääb, Stefan;
- Wichmann, H.-Erich;
- Hasdemir, Can;
- Aizawa, Yoshifusa;
- Wilde, Arthur A. M.;
- Roden, Dan M.;
- Bezzina, Connie R.;
- Yang, Tao
Publication type:
journal article
Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythmias.
Published in:
Frontiers in Physiology, 2012, v. 3, p. 1, doi. 10.3389/fphys.2012.00346
By:
- Hoekstra, Maaike;
- Mummery, Christine L.;
- Wilde, Arthur A. M.;
- Bezzina, Connie R.;
- Verkerk, Arie O.
Publication type:
Article
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1836, doi. 10.1002/ajmg.a.61294
By:
- Škorić‐Milosavljević, Doris;
- Tjong, Fleur V. Y.;
- Barc, Julien;
- Backx, Ad P. C. M.;
- Clur, Sally‐Ann B.;
- Spaendonck‐Zwarts, Karin;
- Oostra, Roelof‐Jan;
- Lahrouchi, Najim;
- Beekman, Leander;
- Bökenkamp, Regina;
- Barge‐Schaapveld, Daniela Q. C. M.;
- Mulder, Barbara J.;
- Lodder, Elisabeth M.;
- Bezzina, Connie R.;
- Postma, Alex V.
Publication type:
Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1409, doi. 10.1038/ng1113-1409b
By:
- Bezzina, Connie R;
- Barc, Julien;
- Mizusawa, Yuka;
- Remme, Carol Ann;
- Gourraud, Jean-Baptiste;
- Simonet, Floriane;
- Verkerk, Arie O;
- Schwartz, Peter J;
- Crotti, Lia;
- Dagradi, Federica;
- Guicheney, Pascale;
- Fressart, Véronique;
- Leenhardt, Antoine;
- Antzelevitch, Charles;
- Bartkowiak, Susan;
- Schulze-Bahr, Eric;
- Zumhagen, Sven;
- Behr, Elijah R;
- Bastiaenen, Rachel;
- Tfelt-Hansen, Jacob
Publication type:
Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Published in:
Nature Genetics, 2013, v. 45, n. 9, p. 1044, doi. 10.1038/ng.2712
By:
- Bezzina, Connie R;
- Barc, Julien;
- Mizusawa, Yuka;
- Remme, Carol Ann;
- Gourraud, Jean-Baptiste;
- Simonet, Floriane;
- Verkerk, Arie O;
- Schwartz, Peter J;
- Crotti, Lia;
- Dagradi, Federica;
- Guicheney, Pascale;
- Fressart, Véronique;
- Leenhardt, Antoine;
- Antzelevitch, Charles;
- Bartkowiak, Susan;
- Schulze-Bahr, Eric;
- Zumhagen, Sven;
- Behr, Elijah R;
- Bastiaenen, Rachel;
- Tfelt-Hansen, Jacob
Publication type:
Article
Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.
Published in:
Nature Genetics, 2010, v. 42, n. 8, p. 688, doi. 10.1038/ng.623
By:
- Bezzina, Connie R.;
- Pazoki, Raha;
- Bardai, Abdennasser;
- Marsman, Roos F.;
- de Jong, Jonas S. S. G.;
- Blom, Marieke T.;
- Scicluna, Brendon P.;
- Jukema, J. Wouter;
- Bindraban, Navin R.;
- Lichtner, Peter;
- Pfeufer, Arne;
- Bishopric, Nanette H.;
- Roden, Dan M.;
- Meitinger, Thomas;
- Chugh, Sumeet S.;
- Myerburg, Robert J.;
- Jouven, Xavier;
- Kääb, Stefan;
- Dekker, Lukas R. C.;
- Tan, Hanno L.
Publication type:
Article
Genetic variation in SCN10A influences cardiac conduction.
Published in:
Nature Genetics, 2010, v. 42, n. 2, p. 149, doi. 10.1038/ng.516
By:
- John C. Chambers;
- Jing Zhao;
- Terracciano, Cesare M. N.;
- Bezzina, Connie R.;
- Weihua Zhang;
- Kaba, Riyaz;
- Navaratnarajah, Manoraj;
- Lotlikar, Amol;
- Sehmi, Joban S.;
- Kooner, Manraj K.;
- Guohong Deng;
- Siedlecka, Urszula;
- Parasramka, Saurabh;
- El-Hamamsy, Ismail;
- Wass, Mark N.;
- Dekker, Lukas R. C.;
- de Jong, Jonas S. S. G.;
- Sternberg, Michael J. E.;
- McKenna, William;
- Severs, Nicholas J.
Publication type:
Article
hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities.
Published in:
Scientific Reports, 2016, p. 30967, doi. 10.1038/srep30967
By:
- Veerman, Christiaan C.;
- Mengarelli, Isabella;
- Guan, Kaomei;
- Stauske, Michael;
- Barc, Julien;
- Tan, Hanno L.;
- Wilde, Arthur A. M.;
- Verkerk, Arie O.;
- Bezzina, Connie R.
Publication type:
Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Published in:
Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.616834
By:
- Verkerk, Arie O.;
- Knottnerus, Suzan J. G.;
- Portero, Vincent;
- Bleeker, Jeannette C.;
- Ferdinandusse, Sacha;
- Guan, Kaomei;
- IJlst, Lodewijk;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Bezzina, Connie R.;
- Mengarelli, Isabella;
- Houtkooper, Riekelt H.
Publication type:
Article
Integrating metabolomics and proteomics to identify novel drug targets for heart failure and atrial fibrillation.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01395-4
By:
- van Vugt, Marion;
- Finan, Chris;
- Chopade, Sandesh;
- Providencia, Rui;
- Bezzina, Connie R.;
- Asselbergs, Folkert W.;
- van Setten, Jessica;
- Schmidt, A. Floriaan
Publication type:
Article
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01383-8
By:
- Lesurf, Robert;
- Breckpot, Jeroen;
- Bouwmeester, Jade;
- Hanafi, Nour;
- Jain, Anjali;
- Liang, Yijing;
- Papaz, Tanya;
- Lougheed, Jane;
- Mondal, Tapas;
- Alsalehi, Mahmoud;
- Altamirano-Diaz, Luis;
- Oechslin, Erwin;
- Audain, Enrique;
- Dombrowsky, Gregor;
- Postma, Alex V.;
- Woudstra, Odilia I.;
- Bouma, Berto J.;
- Hitz, Marc-Phillip;
- Bezzina, Connie R.;
- Blue, Gillian M.
Publication type:
Article
Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097380
By:
- Koopmann, Tamara T.;
- Adriaens, Michiel E.;
- Moerland, Perry D.;
- Marsman, Roos F.;
- Westerveld, Margriet L.;
- Lal, Sean;
- Zhang, Taifang;
- Simmons, Christine Q.;
- Baczko, Istvan;
- dos Remedios, Cristobal;
- Bishopric, Nanette H.;
- Varro, Andras;
- George Jr, Alfred L.;
- Lodder, Elisabeth M.;
- Bezzina, Connie R.
Publication type:
Article
Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes.
Published in:
PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078511
By:
- Behr, Elijah R.;
- Ritchie, Marylyn D.;
- Tanaka, Toshihiro;
- Kääb, Stefan;
- Crawford, Dana C.;
- Nicoletti, Paola;
- Floratos, Aris;
- Sinner, Moritz F.;
- Kannankeril, Prince J.;
- Wilde, Arthur A. M.;
- Bezzina, Connie R.;
- Schulze-Bahr, Eric;
- Zumhagen, Sven;
- Guicheney, Pascale;
- Bishopric, Nanette H.;
- Marshall, Vanessa;
- Shakir, Saad;
- Dalageorgou, Chrysoula;
- Bevan, Steve;
- Jamshidi, Yalda
Publication type:
Article
A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome.
Published in:
PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067963
By:
- Zumhagen, Sven;
- Veldkamp, Marieke W.;
- Stallmeyer, Birgit;
- Baartscheer, Antonius;
- Eckardt, Lars;
- Paul, Matthias;
- Remme, Carol Ann;
- Bhuiyan, Zahurul A.;
- Bezzina, Connie R.;
- Schulze-Bahr, Eric
Publication type:
Article
SNPs Identified as Modulators of ECG Traits in the General Population Do Not Markedly Affect ECG Traits during Acute Myocardial Infarction nor Ventricular Fibrillation Risk in This Condition.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057216
By:
- Pazoki, Raha;
- de Jong, Jonas S.S.G.;
- Marsman, Roos F.;
- Bruinsma, Nienke;
- Dekker, Lukas R. C.;
- Wilde, Arthur A. M.;
- Bezzina, Connie R.;
- Tanck, Michael W. T.
Publication type:
Article
Genetic testing in early-onset atrial fibrillation.
Published in:
European Heart Journal, 2024, v. 45, n. 34, p. 3111, doi. 10.1093/eurheartj/ehae298
By:
- Kany, Shinwan;
- Jurgens, Sean J;
- Rämö, Joel T;
- Christophersen, Ingrid E;
- Rienstra, Michiel;
- Chung, Mina K;
- Olesen, Morten S;
- Ackerman, Michael J;
- McNally, Elizabeth M;
- Semsarian, Christopher;
- Schnabel, Renate B;
- Wilde, Arthur A M;
- Benjamin, Emelia J;
- Rehm, Heidi L;
- Kirchhof, Paulus;
- Bezzina, Connie R;
- Roden, Dan M;
- Shoemaker, M Benjamin;
- Ellinor, Patrick T
Publication type:
Article
2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC).
Published in:
European Heart Journal, 2023, v. 44, n. 37, p. 3503, doi. 10.1093/eurheartj/ehad194
By:
- Arbelo, Elena;
- Protonotarios, Alexandros;
- Gimeno, Juan R;
- Arbustini, Eloisa;
- Barriales-Villa, Roberto;
- Basso, Cristina;
- Bezzina, Connie R;
- Biagini, Elena;
- Blom, Nico A;
- Boer, Rudolf A de;
- Winter, Tim De;
- Elliott, Perry M;
- Flather, Marcus;
- Garcia-Pavia, Pablo;
- Haugaa, Kristina H;
- Ingles, Jodie;
- Jurcut, Ruxandra Oana;
- Klaassen, Sabine;
- Limongelli, Giuseppe;
- Loeys, Bart
Publication type:
Article
ALPK3: a full spectrum cardiomyopathy gene?
Published in:
European Heart Journal, 2021, v. 42, n. 32, p. 3074, doi. 10.1093/eurheartj/ehab415
By:
- Walsh, Roddy;
- Bezzina, Connie R
Publication type:
Article
Illuminating the path from genetics to clinical outcome in Brugada syndrome.
Published in:
European Heart Journal, 2021, v. 42, n. 11, p. 1091, doi. 10.1093/eurheartj/ehaa994
By:
- Postema, Pieter G;
- Walsh, Roddy;
- Bezzina, Connie R
Publication type:
Article
When genetic burden reaches threshold.
Published in:
European Heart Journal, 2020, v. 41, n. 39, p. 3849, doi. 10.1093/eurheartj/ehaa269
By:
- Walsh, Roddy;
- Tadros, Rafik;
- Bezzina, Connie R
Publication type:
Article
Predicting cardiac electrical response to sodium-channel blockade and Brugada syndrome using polygenic risk scores.
Published in:
European Heart Journal, 2019, v. 40, n. 37, p. 3097, doi. 10.1093/eurheartj/ehz435
By:
- Tadros, Rafik;
- Tan, Hanno L;
- Investigators, ESCAPE-NET;
- Mathari, Sulayman el;
- Kors, Jan A;
- Postema, Pieter G;
- Lahrouchi, Najim;
- Beekman, Leander;
- Radivojkov-Blagojevic, Milena;
- Amin, Ahmad S;
- Meitinger, Thomas;
- Tanck, Michael W;
- Wilde, Arthur A;
- Bezzina, Connie R
Publication type:
Article
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Published in:
European Heart Journal, 2019, v. 40, n. 35, p. 2964, doi. 10.1093/eurheartj/ehz311
By:
- Crotti, Lia;
- Spazzolini, Carla;
- Tester, David J;
- Ghidoni, Alice;
- Baruteau, Alban-Elouen;
- Beckmann, Britt-Maria;
- Behr, Elijah R;
- Bennett, Jeffrey S;
- Bezzina, Connie R;
- Bhuiyan, Zahurul A;
- Celiker, Alpay;
- Cerrone, Marina;
- Dagradi, Federica;
- Ferrari, Gaetano M De;
- Etheridge, Susan P;
- Fatah, Meena;
- Garcia-Pavia, Pablo;
- Al-Ghamdi, Saleh;
- Hamilton, Robert M;
- Al-Hassnan, Zuhair N
Publication type:
Article
Green tea supplementation alters gene transcripts involved in hepatic fat oxidation and synthesis in rats fed high fat diets.
Published in:
Asia Pacific Journal of Clinical Nutrition, 2005, v. 14, p. S85
By:
- Bezzina, R.;
- Chen, N.;
- Mathai, M. L.;
- Carey, K. A.;
- Cameron-Smith, D.;
- Weisinger, H. S.;
- Sinclair, A. J.;
- Weisinger, R. S.;
- Lewandowski, P.
Publication type:
Article
Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3.
Published in:
Human Genetics, 2000, v. 106, n. 6, p. 614, doi. 10.1007/s004390000308
By:
- Postma, Alex V.;
- Bezzina, Connie R.;
- de Vries, Jeltje F.;
- Wilde, Arthur A. M.;
- Moorman, Antoon F. M.;
- Mannens, Marcel M. A. M.
Publication type:
Article
The Primary Arrhythmia Syndromes: Same Mutation, Different Manifestations. Are We Starting to Understand Why?
Published in:
Journal of Cardiovascular Electrophysiology, 2008, v. 19, n. 4, p. 445, doi. 10.1111/j.1540-8167.2007.01073.x
By:
- SCICLUNA, BRENDON P.;
- WILDE, ARTHUR W.;
- BEZZINA, CONNIE R.
Publication type:
Article
Diagnostic Value of Flecainide Testing in Unmasking SCN5A-Related Brugada Syndrome.
Published in:
Journal of Cardiovascular Electrophysiology, 2006, v. 17, n. 8, p. 857, doi. 10.1111/j.1540-8167.2006.00531.x
By:
- MEREGALLI, PAOLA G.;
- RUIJTER, JAN M.;
- HOFMAN, NYNKE;
- BEZZINA, CONNIE R.;
- WILDE, ARTHUR A.M.;
- TAN, HANNO L.
Publication type:
Article
Possible Bradycardic Mode of Death and Successful Pacemaker Treatment in a Large Family with Features of Long QT Syndrome Type 3 and Brugada Syndrome.
Published in:
Journal of Cardiovascular Electrophysiology, 2001, v. 12, n. 6, p. 630, doi. 10.1046/j.1540-8167.2001.00630.x
By:
- Van Den Berg, Maarten P.;
- Wilde, Arthur A. M.;
- Viersma, Jan Willem;
- Brouwer, Jan;
- Haaksma, Jaap;
- Van Der Hout, Annemieke H.;
- Stolte-Dijkstra, Irene;
- Bezzina, Connie R.;
- Van Langen, Irene M.;
- Beaufort-Krol, Gertie C. M.;
- Cornel, Jan Hein;
- Crijns, Harry J. G. M.
Publication type:
Article
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Published in:
Journal of Arrhythmia, 2022, v. 38, n. 4, p. 491, doi. 10.1002/joa3.12717
By:
- Wilde, Arthur A. M.;
- Semsarian, Christopher;
- Márquez, Manlio F.;
- Sepehri Shamloo, Alireza;
- Ackerman, Michael J.;
- Ashley, Euan A.;
- Sternick Eduardo, Back;
- Barajas‐Martinez, Héctor;
- Behr, Elijah R.;
- Bezzina, Connie R.;
- Breckpot, Jeroen;
- Charron, Philippe;
- Chockalingam, Priya;
- Crotti, Lia;
- Gollob, Michael H.;
- Lubitz, Steven;
- Makita, Naomasa;
- Ohno, Seiko;
- Ortiz‐Genga, Martín;
- Sacilotto, Luciana
Publication type:
Article
The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 10, p. 1071, doi. 10.1038/ejhg.2012.48
By:
- Kolder, Iris CRM;
- Michels, Michelle;
- Christiaans, Imke;
- Ten Cate, Folkert J;
- Majoor-Krakauer, Danielle;
- Danser, Alexander HJ;
- Lekanne Deprez, Robert H;
- Tanck, Michael WT;
- Wilde, Arthur AM;
- Bezzina, Connie R;
- Dooijes, Dennis
Publication type:
Article
Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 3, p. 350, doi. 10.1038/sj.ejhg.5201952
By:
- Yang, P.;
- Koopmann, T .T.;
- Pfeufer, A.;
- Jalilzadeh, S.;
- Schulze-Bahr, E.;
- Kääb, S.;
- Wilde, A. A.;
- Roden, D. M.;
- Bezzina, C. R.
Publication type:
Article
Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Published in:
European Heart Journal, 2012, v. 33, n. 6, p. 714, doi. 10.1093/eurheartj/ehr473
By:
- Amin, Ahmad S.;
- Giudicessi, John R.;
- Tijsen, Anke J.;
- Spanjaart, Anne M.;
- Reckman, Yolan J.;
- Klemens, Christine A.;
- Tanck, Michael W.;
- Kapplinger, Jamie D.;
- Hofman, Nynke;
- Sinner, Moritz F.;
- Müller, Martina;
- Wijnen, Wino J.;
- Tan, Hanno L.;
- Bezzina, Connie R.;
- Creemers, Esther E.;
- Wilde, Arthur A. M.;
- Ackerman, Michael J.;
- Pinto, Yigal M.
Publication type:
Article
Scientists on the Spot: The complex inheritance of cardiac disorders.
Published in:
Cardiovascular Research, 2020, v. 116, n. 1, p. e11, doi. 10.1093/cvr/cvz295
By:
- Patel, Jyoti;
- Bezzina, Connie R
Publication type:
Article
P472Pro-arrhythmic features of a novel mouse model of sudden death due to abnormal branched chain amino acid (BCAA) metabolism.
Published in:
2018
By:
- Portero, V;
- Podliesna, S;
- Nicol, T;
- Casini, S;
- Marchal, G A;
- Blease, A;
- Potter, P;
- Bezzina, C R;
- Remme, C A
Publication type:
Abstract
P265Functional characterization of a LQT3 mutation located in the PY motif of the cardiac sodium channel associated with altered channel ubiquitylation.
Published in:
2018
By:
- Casini, S;
- Portero, V;
- Rougier, J S;
- Albesa, M;
- Marchal, G A;
- Chung, W K;
- Bezzina, C R;
- Abriel, H;
- Remme, C A
Publication type:
Abstract
Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis.
Published in:
Cardiovascular Research, 2017, v. 113, n. 12, p. 1521, doi. 10.1093/cvr/cvx150
By:
- Hoorntje, Edgar T.;
- te Rijdt, Wouter P.;
- James, Cynthia A.;
- Pilichou, Kalliopi;
- Basso, Cristina;
- Judge, Daniel P.;
- Bezzina, Connie R.;
- van Tintelen, J. Peter
Publication type:
Article
Anti-arrhythmic potential of the late sodium current inhibitor GS-458967 inmurine Scn5a-1798insD<sup>+/-</sup> and human SCN5A-1795insD<sup>+/-</sup> iPSC-derived cardiomyocytes.
Published in:
Cardiovascular Research, 2017, v. 113, n. 7, p. 829, doi. 10.1093/cvr/cvx077
By:
- Portero, Vincent;
- Casini, Simona;
- Hoekstra, Maaike;
- Verkerk, Arie O.;
- Mengarelli, Isabella;
- Belardinelli, Luiz;
- Rajamani, Sridharan;
- Wilde, Arthur A. M.;
- Bezzina, Connie R.;
- Veldkamp, Marieke W.;
- Remme, Carol Ann
Publication type:
Article
Intercalated disc abnormalities, reduced Na+ current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes.
Published in:
Cardiovascular Research, 2012, v. 95, n. 4, p. 409, doi. 10.1093/cvr/cvs219
By:
- Rizzo, Stefania;
- Lodder, Elisabeth M.;
- Verkerk, Arie O.;
- Wolswinkel, Rianne;
- Beekman, Leander;
- Pilichou, Kalliopi;
- Basso, Cristina;
- Remme, Carol Ann;
- Thiene, Gaetano;
- Bezzina, Connie R.
Publication type:
Article
Developmental aspects of cardiac arrhythmogenesis.
Published in:
Cardiovascular Research, 2011, v. 91, n. 2, p. 243, doi. 10.1093/cvr/cvr134
By:
- Postma, Alex V.;
- Christoffels, Vincent M.;
- Bezzina, Connie R.
Publication type:
Article

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