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Items: 1 to 20 of 88

1.
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes
Luzuko O Matolweni, Soraya Bardien, George Rebello, Ekow Oppon, Miroslav Munclinger, Rajkumar Ramesar, Hugh Watkins, Bongani M Mayosi
BMC Med Genet. 2006; 7: 29. Published online 2006 Mar 28. doi: 10.1186/1471-2350-7-29
PMCID:
PMC1444927
ArticlePubReaderPDF–283KCite
2.
The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain
Ainhoa Robles-Mezcua, Amalio Ruíz-Salas, Carmen Medina-Palomo, María Robles-Mezcua, Arancha Díaz-Expósito, María Victoria Ortega-Jiménez, Juan Ramón Gimeno-Blanes, Manuel F. Jiménez-Navarro, José Manuel García-Pinilla
Genes (Basel) 2023 Jul; 14(7): 1468. Published online 2023 Jul 19. doi: 10.3390/genes14071468
PMCID:
PMC10379208
ArticlePubReaderPDF–1.1MCite
3.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant
Edgar T. Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N. Parikh, Gerard J. te Meerman, Belinda Gray, Ahmet Adiyaman, Richard D. Bagnall, Daniela Q.C.M. Barge-Schaapveld, Maarten P. van den Berg, Marianne Bootsma, Laurens P. Bosman, Gemma Correnti, Johan Duflou, Ruben N. Eppinga, Diane Fatkin, Michael Fietz, Eric Haan, Jan D.H. Jongbloed, Arnaud D. Hauer, Lien Lam, Freyja H.M. van Lint, Amrit Lota, Carlo Marcelis, Hugh J. McCarthy, Anneke M. van Mil, Rogier A. Oldenburg, Nicholas Pachter, R. Nils Planken, Chloe Reuter, Christopher Semsarian, Jasper J. van der Smagt, Tina Thompson, Jitendra Vohra, Paul G.A. Volders, Jaap I. van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S. Amin, Arthur A.M. Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A. Ashley, Matthew T. Wheeler, James S. Ware, J. Peter van Tintelen, Jodie Ingles
Circ Genom Precis Med. 2023 Feb; 16(1): e003672. Published online 2022 Dec 29. doi: 10.1161/CIRCGEN.121.003672
PMCID:
PMC9946166
ArticlePubReaderPDF–698KCite
4.
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
Mimount Bourfiss, Marion van Vugt, Abdulrahman I. Alasiri, Bram Ruijsink, Jessica van Setten, A. Floriaan Schmidt, Dennis Dooijes, Esther Puyol-Antón, Birgitta K. Velthuis, J. Peter van Tintelen, Anneline S.J.M. te Riele, Annette F. Baas, Folkert W. Asselbergs
Circ Genom Precis Med. 2022 Dec; 15(6): e003704. Published online 2022 Oct 20. doi: 10.1161/CIRCGEN.122.003704
PMCID:
PMC9770140
ArticlePubReaderPDF–849KCite
5.
Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy
Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forså, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Prøven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Früh, Kristina Hermann Haugaa
Eur Heart J. 2022 Dec 1; 43(45): 4694–4703. Published online 2022 Aug 29. doi: 10.1093/eurheartj/ehac485
PMCID:
PMC9712025
ArticlePubReaderPDF–706KCite
6.
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy
Amrit S. Lota, Mark R. Hazebroek, Pantazis Theotokis, Rebecca Wassall, Sara Salmi, Brian P. Halliday, Upasana Tayal, Job Verdonschot, Devendra Meena, Ruth Owen, Antonio de Marvao, Alma Iacob, Momina Yazdani, Daniel J. Hammersley, Richard E. Jones, Riccardo Wage, Rachel Buchan, Fredrik Vivian, Yakeen Hafouda, Michela Noseda, John Gregson, Tarun Mittal, Joyce Wong, Jan Lukas Robertus, A. John Baksi, Vassilios Vassiliou, Ioanna Tzoulaki, Antonis Pantazis, John G.F. Cleland, Paul J.R. Barton, Stuart A. Cook, Dudley J. Pennell, Pablo Garcia-Pavia, Leslie T. Cooper, Jr, Stephane Heymans, James S. Ware, Sanjay K. Prasad
Circulation. 2022 Oct 11; 146(15): 1123–1134. Published online 2022 Sep 26. doi: 10.1161/CIRCULATIONAHA.121.058457
PMCID:
PMC9555763
ArticlePubReaderPDF–788KCite
7.
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator
Alexandros Protonotarios, Riccardo Bariani, Chiara Cappelletto, Menelaos Pavlou, Alba García-García, Alberto Cipriani, Ioannis Protonotarios, Adrian Rivas, Regitze Wittenberg, Maddalena Graziosi, Zafeirenia Xylouri, José M Larrañaga-Moreira, Antonio de Luca, Rudy Celeghin, Kalliopi Pilichou, Athanasios Bakalakos, Luis Rocha Lopes, Konstantinos Savvatis, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Cristina Basso, Javier Limeres Freire, Jose F Rodriguez-Palomares, Toru Kubo, Tomas Ripoll-Vera, Roberto Barriales-Villa, Loizos Antoniades, Jens Mogensen, Pablo Garcia-Pavia, Karim Wahbi, Elena Biagini, Aris Anastasakis, Adalena Tsatsopoulou, Esther Zorio, Juan R Gimeno, Jose Manuel Garcia-Pinilla, Petros Syrris, Gianfranco Sinagra, Barbara Bauce, Perry M Elliott
Eur Heart J. 2022 Aug 21; 43(32): 3053–3067. Published online 2022 Jun 29. doi: 10.1093/eurheartj/ehac235
Correction in:
Eur Heart J. 2022 Nov 1; 43(41): 4373.
PMCID:
PMC9392652
ArticlePubReaderPDF–2.6MCite
8.
A Drosophila melanogaster model for TMEM43-related arrhythmogenic right ventricular cardiomyopathy type 5
Nora Klinke, Heiko Meyer, Sandra Ratnavadivel, Marcel Reinhardt, Jürgen J. Heinisch, Anders Malmendal, Hendrik Milting, Achim Paululat
Cell Mol Life Sci. 2022; 79(8): 444. Published online 2022 Jul 22. doi: 10.1007/s00018-022-04458-0
PMCID:
PMC9307560
ArticlePubReaderPDF–4.3MCite
9.
Progressive Reduction in Right Ventricular Contractile Function Due to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy
Emmanuel M. Camors, Alyson H. Roth, Joseph R. Alef, Ryan D. Sullivan, Jason N. Johnson, Enkhsaikhan Purevjav, Jeffrey A. Towbin
Circulation. Author manuscript; available in PMC 2023 May 24.
Published in final edited form as: Circulation. 2022 May 24; 145(21): 1609–1624. Published online 2022 Apr 19. doi: 10.1161/CIRCULATIONAHA.120.049261
PMCID:
PMC9133220
ArticlePubReaderPDF–1.9MCite
10.
Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy
Maddalena Graziosi, Raffaello Ditaranto, Claudio Rapezzi, Ferdinando Pasquale, Luigi Lovato, Ornella Leone, Vanda Parisi, Luciano Potena, Valentina Ferrara, Matteo Minnucci, Angelo Giuseppe Caponetti, Chiara Chiti, Alessandra Ferlini, Francesca Gualandi, Cesare Rossi, Alessandra Berardini, Giacomo Tini, Matteo Bertini, Matteo Ziacchi, Mauro Biffi, Nazzareno Galie, Iacopo Olivotto, Elena Biagini
Open Heart. 2022; 9(1): e001914. Published online 2022 Apr 20. doi: 10.1136/openhrt-2021-001914
PMCID:
PMC9021777
ArticlePubReaderPDF–1.8MCite
11.
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features
Alice Ghidoni, Perry M. Elliott, Petros Syrris, Hugh Calkins, Cynthia A. James, Daniel P. Judge, Brittney Murray, Julien Barc, Vincent Probst, Jean Jacques Schott, Jiang-Ping Song, Richard N.W. Hauer, Edgar T. Hoorntje, J. Peter van Tintelen, Eric Schulze-Bahr, Robert M. Hamilton, Kirti Mittal, Christopher Semsarian, Elijah R. Behr, Michael J. Ackerman, Cristina Basso, Gianfranco Parati, Davide Gentilini, Maria-Christina Kotta, Bongani M. Mayosi, Peter J. Schwartz, Lia Crotti
Circ Genom Precis Med. 2021 Apr; 14(2): e003097. Published online 2021 Feb 10. doi: 10.1161/CIRCGEN.120.003097
PMCID:
PMC8284361
ArticlePubReaderPDF–501KCite
12.
Cardiac magnetic resonance in patients with ARVC and family members: the potential role of native T1 mapping
Georgios Georgiopoulos, Mattia Zampieri, Silvia Molaro, Anna Chaloupka, Alberto Aimo, Barbara Barra, Leema Roberts, Laura Monje-Garcia, Colin Evans, Nabeel Sheikh, Rachel Bastiaenen, Michael Cooklin, Pier-Giorgio Masci, Gerald Carr-White, Gherardo Finocchiaro, Amedeo Chiribiri
Int J Cardiovasc Imaging. 2021; 37(6): 2037–2047. Published online 2021 Feb 7. doi: 10.1007/s10554-021-02166-7
PMCID:
PMC8255264
ArticlePubReaderPDF–855KCite
13.
‘Hot phase’ clinical presentation in arrhythmogenic cardiomyopathy
Riccardo Bariani, Alberto Cipriani, Stefania Rizzo, Rudy Celeghin, Maria Bueno Marinas, Benedetta Giorgi, Monica De Gaspari, Ilaria Rigato, Loira Leoni, Alessandro Zorzi, Manuel De Lazzari, Alessandra Rampazzo, Sabino Iliceto, Gaetano Thiene, Domenico Corrado, Kalliopi Pilichou, Cristina Basso, Martina Perazzolo Marra, Barbara Bauce
Europace. 2021 Jun; 23(6): 907–917. Published online 2020 Dec 13. doi: 10.1093/europace/euaa343
PMCID:
PMC8184227
ArticlePubReaderPDF–748KCite
14.
High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy
Monica Chivulescu, Øyvind H Lie, Bogdan A Popescu, Helge Skulstad, Thor Edvardsen, Ruxandra O Jurcut, Kristina H Haugaa
Eur Heart J. 2020 Apr 7; 41(14): 1401–1410. Published online 2019 Sep 1. doi: 10.1093/eurheartj/ehz570
PMCID:
PMC7138527
ArticlePubReaderPDF–3.3MCite
15.
Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)
Giuseppe Femia, Christopher Semsarian, Mark McGuire, Raymond W. Sy, Rajesh Puranik
J Cardiovasc Magn Reson. 2019; 21: 76. Published online 2019 Dec 12. doi: 10.1186/s12968-019-0581-0
PMCID:
PMC6909455
ArticlePubReaderPDF–699KCite
16.
Respiratory syncytial virus-associated mortality in a healthy 3-year-old child: a case report
A. Gavotto, A. Ousselin, O. Pidoux, P. Cathala, V. Costes-Martineau, B. Rivière, J. L. Pasquié, P. Amedro, C. Rambaud, G. Cambonie
BMC Pediatr. 2019; 19: 462. Published online 2019 Nov 27. doi: 10.1186/s12887-019-1847-2
PMCID:
PMC6880595
ArticlePubReaderPDF–1.8MCite
17.
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies
Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang
J Transl Med. 2018; 16: 241. Published online 2018 Aug 30. doi: 10.1186/s12967-018-1605-5
PMCID:
PMC6117967
ArticlePubReaderPDF–842KCite
18.
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)
Brittney Murray, Edgar T. Hoorntje, Anneline S. J. M. te Riele, Crystal Tichnell, Jeroen F. van der Heijden, Harikrishna Tandri, Maarten P. van den Berg, Jan D. H. Jongbloed, Arthur A. M. Wilde, Richard N. W. Hauer, Hugh Calkins, Daniel P. Judge, Cynthia A. James, J. Peter van Tintelen, Dennis Dooijes
J Cardiovasc Electrophysiol. 2018 Jul; 29(7): 1004–1009. Published online 2018 May 21. doi: 10.1111/jce.13621
PMCID:
PMC6055742
ArticlePubReaderPDF–3.2MCite
19.
Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy
Alexandros Protonotarios, Aris Anastasakis, Demosthenes B. Panagiotakos, Loizos Antoniades, Petros Syrris, Apostolos Vouliotis, Christodoulos Stefanadis, Adalena Tsatsopoulou, William J. McKenna, Nikos Protonotarios
Europace. 2016 Apr; 18(4): 610–616. Published online 2015 Mar 29. doi: 10.1093/europace/euv061
PMCID:
PMC5841562
ArticlePubReaderPDF–229KCite
20.
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis
Zhenyan Xu, Wengen Zhu, Cen Wang, Lin Huang, Qiongqiong Zhou, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
Sci Rep. 2017; 7: 41387. Published online 2017 Jan 25. doi: 10.1038/srep41387
PMCID:
PMC5264593
ArticlePubReaderPDF–1.1MCite

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