Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 68 Records) |
Query Trace: PKP2[original query] |
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Putative role of Brugada syndrome genes in familial atrial fibrillation. European review for medical and pharmacological sciences 2019 9 23 (17): 7582-7598. Maltese P E, Aldanova E, Kriuchkova N, Averianov A, Manara E, Paolacci S, Bruson A, Miotto R, Sartori M, Guerri G, Zuntini M, Marceddu G, Tezzele S, Tadtaeva K, Chernova A, Aksyutina N, Nikulina S, Nodari S, Bertelli |
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. Circulation. Genomic and precision medicine 2019 8 12 (8): e002467. van Lint Freyja H M, Murray Brittney, Tichnell Crystal, Zwart Rob, Amat Nuria, Lekanne Deprez Ronald H, Dittmann Sven, Stallmeyer Birgit, Calkins Hugh, van der Smagt Jasper J, van den Wijngaard Arthur, Dooijes Dennis, van der Zwaag Paul A, Schulze-Bahr Eric, Judge Daniel P, Jongbloed Jan D H, van Tintelen J Peter, James Cynthia |
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 |
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation. Molecular genetics & genomic medicine 2019 4 7 (6): e593. Headrick Andrew T, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Penny Daniel J, Kim Jeffrey J, Landstrom Andrew |
Recessive variants in plakophilin-2 contributes to early-onset arrhythmogenic cardiomyopathy with severe heart failure. 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 2019 3 21 (6): 970-977. Chen Kai, Rao Man, Guo Guangran, Duru Firat, Chen Liang, Chen Xiao, Song Jiangping, Hu Shengsh |
High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia. European journal of heart failure 2019 Feb . Hermida Alexis, Fressart Véronique, Hidden-Lucet Francoise, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Mansencal Nicolas, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar I, Rouanet Stephanie, Charron Philippe, Gandjbakhch Estel |
"Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest. International journal of cardiology 2020 9 324 96-101. Isbister Julia C, Nowak Natalie, Butters Alexandra, Yeates Laura, Gray Belinda, Sy Raymond W, Ingles Jodie, Bagnall Richard D, Semsarian Christoph |
Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation 2020 5 141 (23): 1872-1884. Smith Eric D, Lakdawala Neal K, Papoutsidakis Nikolaos, Aubert Gregory, Mazzanti Andrea, McCanta Anthony C, Agarwal Prachi P, Arscott Patricia, Dellefave-Castillo Lisa M, Vorovich Esther E, Nutakki Kavitha, Wilsbacher Lisa D, Priori Silvia G, Jacoby Daniel L, McNally Elizabeth M, Helms Adam |
Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria. Circulation. Genomic and precision medicine 2020 11 14 (1): e003047. Costa Sarah, Medeiros-Domingo Argelia, Gasperetti Alessio, Akdis Deniz, Berger Wolfgang, James Cynthia A, Ruschitzka Frank, Brunckhorst Corinna B, Duru Firat, Saguner Ardan |
Understand variability of COVID-19 through population and tissue variations in expression of SARS-CoV-2 host genes. Informatics in medicine unlocked 2020 10 21 100443. Chen Liang, Zheng Si |
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features. The Canadian journal of cardiology 2021 Sep . Wu Guixin, Liu Jie, Ruan Jieyun, Yu Shiqin, Wang Limei, Zhao Shihua, Wang Shuiyun, Kang Lianming, Wang Jizheng, Song L |
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 |
Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers. Cardiology 2021 9 146 (6): 763-771. Svensson Anneli, Platonov Pyotr G, Haugaa Kristina H, Zareba Wojciech, Jensen Henrik Kjærulf, Bundgaard Henning, Gilljam Thomas, Madsen Trine, Hansen Jim, Dejgaard Lars A, Karlsson Lars O, Gréen Anna, Polonsky Bronislava, Edvardsen Thor, Svendsen Jesper Hastrup, Gunnarsson Cecil |
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure. Journal of medical genetics 2021 8 59 (9): 858-864. Christensen Alex Hørby, Platonov Pyotr G, Jensen Henrik Kjærulf, Chivulescu Monica, Svensson Anneli, Dahlberg Pia, Madsen Trine, Frederiksen Tanja Charlotte, Heliö Tiina, Lie Øyvind Haugen, Haugaa Kristina H, Hastrup Svendsen Jesper, Bundgaard Henni |
Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. International journal of molecular sciences 2021 7 22 (13): . Treat Jacqueline A, Pfeiffer Ryan, Barajas-Martinez Hector, Goodrow Robert J, Bot Corina, Haedo Rodolfo J, Knox Ronald, Cordeiro Jonathan |
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 |
Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy. Journal of applied genetics 2021 Jun . Biernacka El?bieta K, Borowiec Karolina, Franaszczyk Maria, Szperl Ma?gorzata, Rampazzo Alessandra, Wo?niak Olgierd, Roszczynko Marta, ?migielski Witold, Luty?ska Anna, Hoffman Pio |
The genetic architecture of Plakophilin 2 cardiomyopathy. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jun . Dries Annika M, Kirillova Anna, Reuter Chloe M, Garcia John, Zouk Hana, Hawley Megan, Murray Brittney, Tichnell Crystal, Pilichou Kalliopi, Protonotarios Alexandros, Medeiros-Domingo Argelia, Kelly Melissa A, Baras Aris, Ingles Jodie, Semsarian Christopher, Bauce Barbara, Celeghin Rudy, Basso Cristina, Jongbloed Jan D H, Nussbaum Robert L, Funke Birgit, Cerrone Marina, Mestroni Luisa, Taylor Matthew R G, Sinagra Gianfranco, Merlo Marco, Saguner Ardan M, Elliott Perry M, Syrris Petros, van Tintelen J Peter, , James Cynthia A, Haggerty Christopher M, Parikh Victoria |
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 |
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy. Genes 2022 5 13 (5): . Caimi-Martinez Fiama, Antoniutti Guido, Blanco Rocio, García de la Villa Bernardo, Alvarenga Nelson, Govea-Callizo Nancy, Torres-Juan Laura, Heine-Suñer Damián, Rosell-Andreo Jordi, Luengos David Crémer, Alvarez-Rubio Jorge, Ripoll-Vera Tom |
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis. Circulation. Genomic and precision medicine 2022 May 101161CIRCGEN121003507. Hylind Robyn J, Pereira Alexandre C, Quiat Daniel, Chandler Stephanie F, Roston Thomas M, Pu William T, Bezzerides Vassilios J, Seidman Jonathan G, Seidman Christine E, Abrams Dominic |
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 |
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. 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 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain. Genes 2023 7 14 (7): . 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-Pinil |
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2023 7 31 (7-8): 315-323. Thomas A Bos, Sebastiaan R D Piers, Marja W Wessels, Arjan C Houweling, Regina Bökenkamp, Marianne Bootsma, Laurens P Bosman, Reinder Evertz, Debby M E I Hellebrekers, Yvonne M Hoedemaekers, Jeroen Knijnenburg, Ronald Lekanne Deprez, Anneke M van Mil, Anneline S J M Te Riele, Marjon A van Slegtenhorst, Arthur A M Wilde, Sing-Chien Yap, Dennis Dooijes, Tamara T Koopmann, J Peter van Tintelen, Daniela Q C M Barge-Schaapveld, |
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland. Journal of the American Heart Association 2023 7 12 (14): e029845. Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B Davidsson, Rosa B Thorolfsdottir, Vinicius Tragante, Gudny A Arnadottir, Brynjar O Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F Gudbjartsson, Hilma Holm, David O Arnar, Kari Stefanss |
Correlations Between Endocardial Voltage Mapping, Diagnosis, and Genetics in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy. The American journal of cardiology 2023 1 190 113-120. Delasnerie Hubert, Gandjbakhch Estelle, Sauve Romain, Beneyto Maxime, Domain Guillaume, Voglimacci-Stephanopoli Quentin, Mandel Franck, Badenco Nicolas, Waintraub Xavier, Mondoly Pierre, Fressart Véronique, Rollin Anne, Maury Philip |
Population-Level Prevalence of Rare Variants Associated With Atrial Fibrillation and its Impact on Patient Outcomes. JACC. Clinical electrophysiology 2023 1 . Kandola Manjinder S, Kulm Scott, Kim Luke K, Markowitz Steven M, Liu Christopher F, Thomas George, Ip James E, Lerman Bruce B, Elemento Olivier, Cheung Jim |
Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry. Frontiers in cardiovascular medicine 2023 1 9 1080608. Girolami Francesca, Spinelli Valentina, Maurizi Niccolò, Focardi Martina, Nesi Gabriella, Maio Vincenza, Grifoni Rossella, Albora Giuseppe, Bertaccini Bruno, Targetti Mattia, Coppini Raffaele, Favilli Silvia, Olivotto Iacopo, Cerbai Elisabet |
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- Page last updated:Apr 16, 2024
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