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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Disease and TMEM43[original query]
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
American journal of human genetics 2008 Apr 82 (4): 809-21.
Merner Nancy D, Hodgkinson Kathy A, Haywood Annika F M, Connors Sean, French Vanessa M, Drenckhahn Jörg-Detlef, Kupprion Christine, Ramadanova Kalina, Thierfelder Ludwig, McKenna William, Gallagher Barry, Morris-Larkin Lynn, Bassett Anne S, Parfrey Patrick S, Young Terry-Ly
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
Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.
Clinical and translational gastroenterology 2019 10 10 (10): e00100.
Toma Claudio, Díaz-Gay Marcos, Soares de Lima Yasmin, Arnau-Collell Coral, Franch-Expósito Sebastià, Muñoz Jenifer, Overs Bronwyn, Bonjoch Laia, Carballal Sabela, Ocaña Teresa, Cuatrecasas Miriam, Díaz de Bustamante Aránzazu, Castells Antoni, Bujanda Luis, Cubiella Joaquín, Balaguer Francesc, Rodríguez-Alcalde Daniel, Fullerton Janice M, Castellví-Bel Ser
The Genetic Makeup of the Electrocardiogram. GWAS Catalog
Cell systems 2020 Sep 11 (3): 229-238.e5.
Verweij Niek, Benjamins Jan-Walter, Morley Michael P, van de Vegte Yordi J, Teumer Alexander, Trenkwalder Teresa, Reinhard Wibke, Cappola Thomas P, van der Harst P
Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
Heart rhythm 2020 2 17 (6): 945-954.
Dominguez Fernando, Zorio Esther, Jimenez-Jaimez Juan, Salguero-Bodes Rafael, Zwart Robert, Gonzalez-Lopez Esther, Molina Pilar, Bermúdez-Jiménez Francisco, Delgado Juan F, Braza-Boïls Aitana, Bornstein Belen, Toquero Jorge, Segovia Javier, Van Tintelen J Peter, Lara-Pezzi Enrique, Garcia-Pavia Pab
Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals. GWAS Catalog
Aging cell 2021 3 20 (3): e13323.
Liu Xiaomin, Song Zijun, Li Yan, Yao Yao, Fang Mingyan, Bai Chen, An Peng, Chen Huashuai, Chen Zhihua, Tang Biyao, Shen Juan, Gao Xiaotong, Zhang Mingrong, Chen Pengyu, Zhang Tao, Jia Huijue, Liu Xiao, Hou Yong, Yang Huanming, Wang Jian, Wang Fudi, Xu Xun, Min Junxia, Nie Chao, Zeng
A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.
International journal of molecular sciences 2024 6 25 (11): .
Maria Bueno Marinas, Marco Cason, Riccardo Bariani, Rudy Celeghin, Monica De Gaspari, Serena Pinci, Alberto Cipriani, Ilaria Rigato, Alessandro Zorzi, Stefania Rizzo, Gaetano Thiene, Martina Perazzolo Marra, Domenico Corrado, Cristina Basso, Barbara Bauce, Kalliopi Pilich
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
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