Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Disease and DSG2[original query] |
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| Arrhythmogenic right ventricular dysplasia. Transactions of the American Clinical and Climatological Association 2008 119 273-86; discussion 287-8. Calkins Hu |
| 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 |
| Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. Heart rhythm : the official journal of the Heart Rhythm Society 2011 Aug 8 (8): 1214-21. Lahtinen Annukka M, Lehtonen Eero, Marjamaa Annukka, Kaartinen Maija, Heliö Tiina, Porthan Kimmo, Oikarinen Lasse, Toivonen Lauri, Swan Heikki, Jula Antti, Peltonen Leena, Palotie Aarno, Salomaa Veikko, Kontula Kim |
| 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 |
| 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 |
| Alzheimer's Disease-Related Polymorphisms in Shunt-Responsive Idiopathic Normal Pressure Hydrocephalus. Journal of Alzheimer's disease : JAD 2017 60 (3): 1077-1085. Huovinen Joel, Helisalmi Seppo, Paananen Jussi, Laiterä Tiina, Kojoukhova Maria, Sutela Anna, Vanninen Ritva, Laitinen Marjo, Rauramaa Tuomas, Koivisto Anne M, Remes Anne M, Soininen Hilkka, Kurki Mitja, Haapasalo Annakaisa, Jääskeläinen Juha E, Hiltunen Mikko, Leinonen Vil |
| An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis. European heart journal 2018 Sep . Chatterjee Diptendu, Fatah Meena, Akdis Deniz, Spears Danna A, Koopmann Tamara T, Mittal Kirti, Rafiq Muhammad A, Cattanach Bruce M, Zhao Qili, Healey Jeff S, Ackerman Michael J, Bos Johan Martijn, Sun Yu, Maynes Jason T, Brunckhorst Corinna, Medeiros-Domingo Argelia, Duru Firat, Saguner Ardan M, Hamilton Robert |
| 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 |
| Involvement of human monogenic cardiomyopathy genes in experimental polygenic cardiac hypertrophy. Physiological genomics 2018 5 50 (9): 680-687. Prestes P R, Marques F Z, Lopez-Campos G, Lewandowski P, Delbridge L M D, Charchar F J, Harrap S |
| Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs. Neurobiology of aging 2018 11 74 135-146. Katsumata Yuriko, Nelson Peter T, Estus Steven, , Fardo David |
| A common indel polymorphism of the Desmoglein-2 (DSG2) is associated with sudden cardiac death in Chinese populations. Forensic science international 2019 Jun 301 382-387. Zou Yan, Zhang Qing, Zhang Jianhua, Chen Xuekun, Zhou Wei, Yang Zhenzhen, Yang Qi, Yu Huan, Li Lijuan, He Yan, Li Chengtao, Zhang Suhua, Zhu Shaohua, Luo Bin, Gao Yuzh |
| Rare non-coding Desmoglein-2 variant contributes to Arrhythmogenic right ventricular cardiomyopathy. Journal of molecular and cellular cardiology 2019 5 131 164-170. Christensen Alex Hørby, Andersen Claus B, Wassilew Katharina, Svendsen Jesper Hastrup, Bundgaard Henning, Brand Stefan-Martin, Schmitz Bor |
| 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 |
| Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant. International journal of cardiology 2019 10 298 25-31. Chen Peng, Li Zongzhe, Yu Bo, Ma Fei, Li Xianqing, Wang Dao W |
| Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimer's research & therapy 2020 11 12 (1): 156. Seo Jieun, Byun Min Soo, Yi Dahyun, Lee Jun Ho, Jeon So Yeon, Shin Seong A, Kim Yu Kyeong, Kang Koung Mi, Sohn Chul-Ho, Jung Gijung, Park Jong-Chan, Han Sun-Ho, Byun Jayoung, Mook-Jung Inhee, Lee Dong Young, Choi Murim, |
| 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 |
| Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ 2021 2 9 e10711. Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain |
| 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 |
| Case report: Additional variants induced sudden cardiac death among pediatric ACM with DSG2 homozygous mutant genotype: a report of three cases. Frontiers in genetics 2024 9 15 1428796. Meng Wei, Yifei Li, Xiaoliang Liu, Kaiyu Zhou, Yu Qiu, Lei Liu, Lili Huang, Zhongqiang L |
| Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant. Human genome variation 2024 12 11 (1): 47. Takuya Sumida, Shou Ogawa, Shuichiro Higo, Yuki Kuramoto, Ryo Eto, Yoshihiko Ikeda, Congcong Sun, Junjun Li, Li Liu, Tomoka Tabata, Yoshihiro Asano, Mikio Shiba, Yasuhiro Akazawa, Daisuke Nakamura, Takafumi Oka, Tomohito Ohtani, Yasushi Saka |
| 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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