Human Genome Epidemiology Literature Finder
Records 1 - 26 (of 26 Records) |
Query Trace: Death and DSP[original query] |
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Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2010 Jun 12 (6): 861-8. Fressart Veronique, Duthoit Guillaume, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Dubourg Olivier, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar, Hidden-Lucet Françoise, Simon Françoise, Bessirard Vanessa, Roux-Buisson Nathalie, Hebert Jean-Louis, Azarine Arshid, Casset-Senon Daniele, Rouzet François, Lecarpentier Yves, Fontaine Guy, Coirault Catherine, Frank Robert, Hainque Bernard, Charron Philip |
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jan 7 (1): 22-9. Bauce Barbara, Nava Andrea, Beffagna Giorgia, Basso Cristina, Lorenzon Alessandra, Smaniotto Gessica, De Bortoli Marzia, Rigato Ilaria, Mazzotti Elisa, Steriotis Alexandros, Marra Martina Perazzolo, Towbin Jeffry A, Thiene Gaetano, Danieli Gian Antonio, Rampazzo Alessand |
Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (6): 1534-42. Ohno Seiko, Nagaoka Iori, Fukuyama Megumi, Kimura Hiromi, Itoh Hideki, Makiyama Takeru, Shimizu Akihiko, Horie Mino |
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. PloS one 2014 9 (6): e100560. Alcalde Mireia, Campuzano Oscar, Berne Paola, García-Pavía Pablo, Doltra Ada, Arbelo Elena, Sarquella-Brugada Georgia, Iglesias Anna, Alonso-Pulpon Luis, Brugada Josep, Brugada Ram |
Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2014 Dec 16 (12): 1838-46. López-Ayala Jose María, Gómez-Milanés Ivan, Sánchez Muñoz Juan José, Ruiz-Espejo Francisco, Ortíz Martín, González-Carrillo Josefa, López-Cuenca David, Oliva-Sandoval M J, Monserrat Lorenzo, Valdés Mariano, Gimeno Juan |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population. International journal of legal medicine 2015 Nov . Zhao Qianhao, Chen Yili, Peng Longlun, Gao Rui, Liu Nian, Jiang Pingping, Liu Chao, Tang Shuangbo, Quan Li, Makielski Jonathan C, Cheng Jiandi |
Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing. Brain pathology (Zurich, Switzerland) 2016 May . Hata Yukiko, Yoshida Koji, Kinoshita Koshi, Nishida Nao |
The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? International journal of cardiology 2017 10 250 139-145. Leinonen Jaakko T, Crotti Lia, Djupsjöbacka Aurora, Castelletti Silvia, Junna Nella, Ghidoni Alice, Tuiskula Annukka M, Spazzolini Carla, Dagradi Federica, Viitasalo Matti, Kontula Kimmo, Kotta Maria-Christina, Widén Elisabeth, Swan Heikki, Schwartz Peter |
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database. European journal of human genetics : EJHG 2018 5 26 (9): 1312-1318. Hall Charlotte L, Sutanto Henry, Dalageorgou Chrysoula, McKenna William John, Syrris Petros, Futema Mar |
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia. Indian pacing and electrophysiology journal 2018 2 18 (3): 91-94. Rangaraju Advithi, Krishnan Shuba, Aparna G, Sankaran Satish, Mannan Ashraf U, Rao B Hygr |
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. The British journal of dermatology 2019 May 180 (5): 1114-1122. Maruthappu T, Posafalvi A, Castelletti S, Delaney P J, Syrris P, O'Toole E A, Green K J, Elliott P M, Lambiase P D, Tinker A, McKenna W J, Kelsell D |
Genotype-Positive Status Is Associated With Poor Prognoses in Patients With Left Ventricular Noncompaction Cardiomyopathy. Journal of the American Heart Association 2018 Oct 7 (20): e009910. Li Shijie, Zhang Ce, Liu Nana, Bai Hui, Hou Cuihong, Wang Jizheng, Song Lei, Pu Jiel |
Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy. Journal of cardiovascular development and disease 2018 1 4 (2): . Serie Daniel J, Crook Julia E, Necela Brian M, Axenfeld Bianca C, Dockter Travis J, Colon-Otero Gerardo, Perez Edith A, Thompson E Aubrey, Norton Nadi |
Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 4 32 (9): 1281-1290. Hata Yukiko, Hirono Keiichi, Yamaguchi Yoshiaki, Ichida Fukiko, Oku Yuko, Nishida Nao |
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients. Pediatric cardiology 2019 4 40 (5): 950-957. Dai Genyin, Pu Zhening, Cheng Xueying, Yin Jie, Chen Jun, Xu Ting, Zhang Han, Li Zewei, Chen Xuan, Chen Jinlong, Qin Yuming, Yang Shiw |
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. Molecular genetics & genomic medicine 2020 9 8 (11): e1504. Carnevale Alessandra, Rosas-Madrigal Sandra, Rosendo-Gutiérrez Rigoberto, López-Mora Enrique, Romero-Hidalgo Sandra, Avila-Vazzini Nydia, Jacobo-Albavera Leonor, Domínguez-Pérez Mayra, Vargas-Alarcón Gilberto, Pérez-Villatoro Fernando, Navarrete-Martínez Juana Inés, Villarreal-Molina María Tere |
Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies. ESC heart failure 2020 5 7 (4): 1520-1533. Piriou Nicolas, Marteau Lara, Kyndt Florence, Serfaty Jean Michel, Toquet Claire, Le Gloan Laurianne, Warin-Fresse Karine, Guijarro Damien, Le Tourneau Thierry, Conan Emilie, Thollet Aurélie, Probst Vincent, Trochu Jean-No |
The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia: insights from the European Survey on Arrhythmogenic Cardiomyopathy. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2021 9 24 (2): 285-295. Belhassen Bernard, Laredo Mikael, Roudijk Rob W, Peretto Giovanni, Zahavi Guy, Sen-Chowdhry Srijita, Badenco Nicolas, Te Riele Anneline S J M, Sala Simone, Duthoit Guillaume, van Tintelen J Peter, Paglino Gabriele, Sellal Jean-Marc, Gasperetti Alessio, Arbelo Elena, Andorin Antoine, Ninni Sandro, Rollin Anne, Peichl Petr, Waintraub Xavier, Bosman Laurens P, Pierre Bertrand, Nof Eyal, Miles Chris, Tfelt-Hansen Jacob, Protonotarios Alexandros, Giustetto Carla, Sacher Frederic, Hermida Jean-Sylvain, Havranek Stepan, Calo Leonardo, Casado-Arroyo Ruben, Conte Giulio, Letsas Konstantinos P, Zorio Esther, Bermúdez-Jiménez Francisco J, Behr Elijah R, Beinart Roy, Fauchier Laurent, Kautzner Josef, Maury Philippe, Lacroix Dominique, Probst Vincent, Brugada Josep, Duru Firat, de Chillou Christian, Bella Paolo Della, Gandjbakhch Estelle, Hauer Richard, Milman An |
Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. Circulation 2021 9 144 (20): 1600-1611. Gigli Marta, Stolfo Davide, Graw Sharon L, Merlo Marco, Gregorio Caterina, Nee Chen Suet, Dal Ferro Matteo, PaldinoMD Alessia, De Angelis Giulia, Brun Francesca, Jirikowic Jean, Salcedo Ernesto E, Turja Sylvia, Fatkin Diane, Johnson Renee, van Tintelen J Peter, Te Riele Anneline S J M, Wilde Arthur A M, Lakdawala Neal K, Picard Kermshlise, Miani Daniela, Muser Daniele, Maria Severini Giovanni, Calkins Hugh, James Cynthia A, Murray Brittney, Tichnell Crystal, Parikh Victoria N, Ashley Euan A, Reuter Chloe, Song Jiangping, Judge Daniel P, McKenna William J, Taylor Matthew R G, Sinagra Gianfranco, Mestroni Lui |
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. Frontiers in cardiovascular medicine 2021 6 8 635141. Leone Maria Pia, Palumbo Pietro, Saenen Johan, Mastroianno Sandra, Castellana Stefano, Amico Cesare, Mazza Tommaso, Potenza Domenico Rosario, Petracca Antonio, Castori Marco, Carella Massimo, Di Stolfo Giusep |
Genetic Architecture of Acute Myocarditis and the Overlap With Inherited Cardiomyopathy. Circulation 2022 9 146 (15): 1123-1134. Lota Amrit S, Hazebroek Mark R, Theotokis Pantazis, Wassall Rebecca, Salmi Sara, Halliday Brian P, Tayal Upasana, Verdonschot Job, Meena Devendra, Owen Ruth, de Marvao Antonio, Iacob Alma, Yazdani Momina, Hammersley Daniel J, Jones Richard E, Wage Riccardo, Buchan Rachel, Vivian Fredrik, Hafouda Yakeen, Noseda Michela, Gregson John, Mittal Tarun, Wong Joyce, Robertus Jan Lukas, Baksi A John, Vassiliou Vassilios, Tzoulaki Ioanna, Pantazis Antonis, Cleland John G F, Barton Paul J R, Cook Stuart A, Pennell Dudley J, Garcia-Pavia Pablo, Cooper Leslie T, Heymans Stephane, Ware James S, Prasad Sanjay |
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes. Journal of the American Heart Association 2022 Sep e025257. Yang Qixin, Berkman Amy M, Ezekian Jordan E, Rosamilia Michael, Rosenfeld Jill A, Liu Pengfei, Landstrom Andrew |
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management. Human mutation 2022 7 43 (9): 1333-1342. Goudal Adeline, Karakachoff Matilde, Lindenbaum Pierre, Baron Estelle, Bonnaud Stéphanie, Kyndt Florence, Arnaud Marine, Minois Damien, Bourcereau Emmanuelle, Thollet Aurélie, Deleuze Jean-François, Genin Emmanuelle, Wiart François, Pasquié Jean-Luc, Galand Vincent, Sacher Frédéric, Dina Christian, Redon Richard, Bezieau Stéphane, Schott Jean-Jacques, Probst Vincent, Barc Juli |
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator. European heart journal 2022 6 43 (32): 3053-3067. Protonotarios Alexandros, Bariani Riccardo, Cappelletto Chiara, Pavlou Menelaos, García-García Alba, Cipriani Alberto, Protonotarios Ioannis, Rivas Adrian, Wittenberg Regitze, Graziosi Maddalena, Xylouri Zafeirenia, Larrañaga-Moreira José M, de Luca Antonio, Celeghin Rudy, Pilichou Kalliopi, Bakalakos Athanasios, Lopes Luis Rocha, Savvatis Konstantinos, Stolfo Davide, Dal Ferro Matteo, Merlo Marco, Basso Cristina, Freire Javier Limeres, Rodriguez-Palomares Jose F, Kubo Toru, Ripoll-Vera Tomas, Barriales-Villa Roberto, Antoniades Loizos, Mogensen Jens, Garcia-Pavia Pablo, Wahbi Karim, Biagini Elena, Anastasakis Aris, Tsatsopoulou Adalena, Zorio Esther, Gimeno Juan R, Garcia-Pinilla Jose Manuel, Syrris Petros, Sinagra Gianfranco, Bauce Barbara, Elliott Perry |
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies. Journal of the American College of Cardiology 2022 11 80 (21): 1981-1994. Paldino Alessia, Dal Ferro Matteo, Stolfo Davide, Gandin Ilaria, Medo Kristen, Graw Sharon, Gigli Marta, Gagno Giulia, Zaffalon Denise, Castrichini Matteo, Masè Marco, Cannatà Antonio, Brun Francesca, Storm Garrett, Severini Giovanni Maria, Lenarduzzi Stefania, Girotto Giorgia, Gasparini Paolo, Bortolotti Francesca, Giacca Mauro, Zacchigna Serena, Merlo Marco, Taylor Matthew R G, Mestroni Luisa, Sinagra Gianfran |
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- Page last updated:Mar 25, 2024
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