Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: JUP[original query] |
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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 428-35. den Haan A Dénise, Tan Boon Yew, Zikusoka Michelle N, Lladó Laura Ibañez, Jain Rahul, Daly Amy, Tichnell Crystal, James Cynthia, Amat-Alarcon Nuria, Abraham Theodore, Russell Stuart D, Bluemke David A, Calkins Hugh, Dalal Darshan, Judge Daniel |
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 |
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. The American journal of cardiology 2013 Oct 112 (8): 1197-206. Groeneweg Judith A, van der Zwaag Paul A, Olde Nordkamp Louise R A, Bikker Hennie, Jongbloed Jan D H, Jongbloed Roselie, Wiesfeld Ans C P, Cox Moniek G P J, van der Heijden Jeroen F, Atsma Douwe E, de Boer Karin, Doevendans Pieter A, Vink Aryan, van Veen Toon A B, Dooijes Dennis, van den Berg Maarten P, Wilde Arthur A M, van Tintelen J Peter, Hauer Richard |
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation research 2014 Oct 115 (10): 884-96. Glessner Joseph T, Bick Alexander G, Ito Kaoru, Homsy Jason G, Rodriguez-Murillo Laura, Fromer Menachem, Mazaika Erica, Vardarajan Badri, Italia Michael, Leipzig Jeremy, DePalma Steven R, Golhar Ryan, Sanders Stephan J, Yamrom Boris, Ronemus Michael, Iossifov Ivan, Willsey A Jeremy, State Matthew W, Kaltman Jonathan R, White Peter S, Shen Yufeng, Warburton Dorothy, Brueckner Martina, Seidman Christine, Goldmuntz Elizabeth, Gelb Bruce D, Lifton Richard, Seidman Jonathan, Hakonarson Hakon, Chung Wendy |
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 |
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 |
BALL-SNP: combining genetic and structural information to identify candidate non-synonymous single nucleotide polymorphisms. Genome medicine 2015 7 (1): 65. Mueller Sabine C, Backes Christina, Kalinina Olga V, Meder Benjamin, Stöckel Daniel, Lenhof Hans-Peter, Meese Eckart, Keller Andre |
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. European journal of medical genetics 2015 Apr 58 (4): 258-65. Zhou Xiujuan, Chen Minglong, Song Hualian, Wang Benqi, Chen Hongwu, Wang Jing, Wang Wei, Feng Shangpeng, Zhang Fengxiang, Ju Weizhu, Li Mingfang, Gu Kai, Cao Kejiang, Wang Dao W, Yang Bi |
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PloS one 2017 8 12 (8): e0181840. Fedida Joel, Fressart Veronique, Charron Philippe, Surget Elodie, Hery Tiphaine, Richard Pascale, Donal Erwan, Keren Boris, Duthoit Guillaume, Hidden-Lucet Françoise, Villard Eric, Gandjbakhch Estel |
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 |
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP). NPJ genomic medicine 2018 4 3 9. Friedman Daniel, Kannan Kasthuri, Faustin Arline, Shroff Seema, Thomas Cheddhi, Heguy Adriana, Serrano Jonathan, Snuderl Matija, Devinsky Orr |
Difference of molecular alterations in HER2-positive and HER2-negative gastric cancers by whole-genome sequencing analysis. Cancer management and research 2018 10 3945-3954. Zhou Chenfei, Feng Xiaojing, Yuan Fei, Ji Jun, Shi Min, Yu Yingyan, Zhu Zhenggang, Zhang J |
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 |
Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.
The Journal of clinical endocrinology and metabolism 2020 Sep . Chai Jin-Fang, Kao Shih-Ling, Wang Chaolong, Lim Victor Jun-Yu, Khor Ing Wei, Dou Jinzhuang, Podgornaia Anna I, Chothani Sonia, Cheng Ching-Yu, Sabanayagam Charumathi, Wong Tien-Yin, van Dam Rob M, Liu Jianjun, Reilly Dermot F, Paterson Andrew D, Sim Xueli |
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. Scientific reports 2020 12 10 (1): 21622. Vahidnezhad Hassan, Youssefian Leila, Faghankhani Masoomeh, Mozafari Nikoo, Saeidian Amir Hossein, Niaziorimi Fatemeh, Abdollahimajd Fahimeh, Sotoudeh Soheila, Rajabi Fateme, Mirsafaei Liaosadat, Sani Zahra Alizadeh, Liu Lu, Guy Alyson, Zeinali Sirous, Kariminejad Ariana, Ho Reginald T, McGrath John A, Uitto Jou |
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 |
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 |
Targeted Re-Sequencing of the 2p21 Locus Identifies Non-Syndromic Cleft Lip Only Novel Susceptibility Gene ZFP36L2. Frontiers in genetics 2022 13 802229. Li Mu-Jia, Shi Jia-Yu, Zhu Qiu-Shuang, Shi Bing, Jia Zhong-L |
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