Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 37 Records) |
| Query Trace: Disease and PKP2[original query] |
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| 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 |
| Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population. European journal of human genetics : EJHG 2015 Aug . Christensen Alex Hørby, Kamstrup Pia Rørbœk, Gandjbakhch Estelle, Benn Marianne, Jensen Jan Skov, Bundgaard Henning, Villard Eric, Tybjærg-Hansen An |
| Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. European heart journal 2015 Apr 36 (14): 847-55. Bhonsale Aditya, Groeneweg Judith A, James Cynthia A, Dooijes Dennis, Tichnell Crystal, Jongbloed Jan D H, Murray Brittney, te Riele Anneline S J M, van den Berg Maarten P, Bikker Hennie, Atsma Douwe E, de Groot Natasja M, Houweling Arjan C, van der Heijden Jeroen F, Russell Stuart D, Doevendans Pieter A, van Veen Toon A, Tandri Harikrishna, Wilde Arthur A, Judge Daniel P, van Tintelen J Peter, Calkins Hugh, Hauer Richard |
| Multiple regulatory variants located in cell type-specific enhancers within the PKP2 locus form major risk and protective haplotypes for canine atopic dermatitis in German shepherd dogs. BMC genetics 2016 17 (1): 97. Tengvall Katarina, Kozyrev Sergey, Kierczak Marcin, Bergvall Kerstin, Farias Fabiana H G, Ardesjö-Lundgren Brita, Olsson Mia, Murén Eva, Hagman Ragnvi, Leeb Tosso, Pielberg Gerli, Hedhammar Åke, Andersson Göran, Lindblad-Toh Kerst |
Genome-wide association study of biologically informed periodontal complex traits offers novel insights into the genetic basis of periodontal disease.
Human molecular genetics 2016 May 25 (10): 2113-2129. Offenbacher Steven, Divaris Kimon, Barros Silvana P, Moss Kevin L, Marchesan Julie T, Morelli Thiago, Zhang Shaoping, Kim Steven, Sun Lu, Beck James D, Laudes Matthias, Munz Matthias, Schaefer Arne S, North Kari |
| Sudden Cardiac Arrest and Rare Genetic Variants in the Community. Circulation. Cardiovascular genetics 2016 Jan . Milano Annalisa, Blom Marieke T, Lodder Elisabeth M, van Hoeijen Daniel A, Barc Julien, Koopmann Tamara T, Bardai Abdennasser, Beekman Leander, Lichtner Peter, van den Berg Maarten P, Wilde Arthur A M, Bezzina Connie R, Tan Hanno |
| Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. 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 2017 Apr 19 (4): 644-650. Sonoda Keiko, Ohno Seiko, Otuki Sou, Kato Koichi, Yagihara Nobue, Watanabe Hiroshi, Makiyama Takeru, Minamino Tohru, Horie Mino |
| Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families. G3 (Bethesda, Md.) 2017 12 8 (2): 659-668. Dueker Nicole D, Guo Shengru, Beecham Ashley, Wang Liyong, Blanton Susan H, Di Tullio Marco R, Rundek Tatjana, Sacco Ralph |
| High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PloS one 2017 12 12 (12): e0189489. Klauke Baerbel, Gaertner-Rommel Anna, Schulz Uwe, Kassner Astrid, Zu Knyphausen Edzard, Laser Thorsten, Kececioglu Deniz, Paluszkiewicz Lech, Blanz Ute, Sandica Eugen, van den Bogaerdt Antoon J, van Tintelen J Peter, Gummert Jan, Milting Hendr |
| Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients. Circulation. Arrhythmia and electrophysiology 2017 10 10 (10): . Pilichou Kalliopi, Lazzarini Elisabetta, Rigato Ilaria, Celeghin Rudy, De Bortoli Marzia, Perazzolo Marra Marina, Cason Marco, Jongbloed Jan, Calore Martina, Rizzo Stefania, Regazzo Daniela, Poloni Giulia, Iliceto Sabino, Daliento Luciano, Delise Pietro, Corrado Domenico, Van Tintelen J Peter, Thiene Gaetano, Rampazzo Alessandra, Basso Cristina, Bauce Barbara, Lorenzon Alessandra, Occhi Gianlu |
| 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 mutations in young patients admitted to an emergency department for syncope during sport practice. Medicina clinica 2018 4 151 (7): 270-274. Gómez Alcaraz Jorge, Bustamante José, Corral Ervigio, Casado Florez Maria Isabel, Vivas David, Cañadas-Godoy Victoria, González Del Castillo Juan, González Armengol Juan Jorge, López-Farré Antonio, Martín Sánchez Francisco Javi |
| Sarcomere variants in arrhythmogenic cardiomyopathy: Pathogenic factor or bystander? Gene 2019 Mar 687 82-89. Chen Kai, Rao Man, Guo Guangran, Chen Xiao, Chen Liang, Song Jiangpi |
| 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 |
| "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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk. JAMA cardiology 2024 6 . Oliver B Vad, Laia M Monfort, Christian Paludan-Müller, Konstantin Kahnert, Søren Z Diederichsen, Laura Andreasen, Luca A Lotta, Jonas B Nielsen, Alicia Lundby, Jesper H Svendsen, Morten S Olesen, |
| Electrophysiological Phenotype-Genotype Study of Sustained Monomorphic Ventricular Tachycardia in Inherited, High Arrhythmic Risk, Left Ventricular Cardiomyopathy. Circulation. Arrhythmia and electrophysiology 2024 11 e013145. Eva Cabrera-Borrego, Francisco J Bermúdez-Jiménez, Alessio Gasperetti, Harikrishna S Tandri, Pablo J Sánchez-Millán, Manuel Molina-Lerma, Ivo Roca-Luque, Sara Vázquez-Calvo, Paolo Compagnucci, Michela Casella, Claudio Tondo, Petr Peichl, Giovani Peretto, Elena Paiotti, Ardan M Saguner, Pablo García-Pavía, Nerea Mora-Ayestarán, José M Larrañaga-Moreira, Pablo Fernández de-Aspe, Roberto Barriales-Villa, Carmen Muñoz-Esparza, Esther Zorio, Julia Martínez-Solé, Luis Lopes, Johanna B Tonko, Pier Lambiase, Perry M Elliott, Moisés Rodríguez-Mañero, Victoria Cañadas-Godoy, Sebastian Giacoman, Miguel Álvarez-López, Rosa Macías-Ruiz, W J McKenna, Luis Tercedor-Sánchez, Juan Jiménez-Jáim |
| Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study. Mayo Clinic proceedings 2024 10 . Marta Figueiral, Alessia Paldino, Matheus Vernet Machado Bressan Wilke, Joseph D Farris, Jan Verheijen, John R Giudicessi, Michael J Ackerman, Janet E Olson, Jennifer Arroyo, Rory J Olson, Eric W Klee, Naveen L Perei |
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