Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 33 Records) |
| Query Trace: Disease and RYR2[original query] |
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| New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circulation. Cardiovascular genetics 2013 Oct 6 (5): 481-9. Jabbari Javad, Jabbari Reza, Nielsen Morten W, Holst Anders G, Nielsen Jonas B, Haunsø Stig, Tfelt-Hansen Jacob, Svendsen Jesper H, Olesen Morten |
| Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening. Heart rhythm : the official journal of the Heart Rhythm Society 2014 Nov 11 (11): 1999-2009. Roux-Buisson Nathalie, Gandjbakhch Estelle, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Mansencal Nicolas, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar, Hidden-Lucet Françoise, Trapani Jonathan, Fouret Pierre, Frank Robert, Fressart Veronique, Fauré Julien, Lunardi Joel, Charron Philip |
| Neuronal Na+ channel blockade suppresses arrhythmogenic diastolic Ca2+ release. Cardiovascular research 2015 Apr 106 (1): 143-52. Radwa?ski Przemys?aw B, Brunello Lucia, Veeraraghavan Rengasayee, Ho Hsiang-Ting, Lou Qing, Makara Michael A, Belevych Andriy E, Anghelescu Mircea, Priori Silvia G, Volpe Pompeo, Hund Thomas J, Janssen Paul M L, Mohler Peter J, Bridge John H B, Poelzing Steven, Györke Sánd |
| Common Variants in TRDN and CALM1 Are Associated with Risk of Sudden Cardiac Death in Chronic Heart Failure Patients in Chinese Han Population. PloS one 2015 10 (7): e0132459. Liu Zhouying, Liu Xiaoyan, Yu Haiyun, Pei Juanhui, Zhang Yinhui, Gong Jing, Pu Jiel |
| Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PloS one 2015 10 (6): e0131517. Ohno Seiko, Hasegawa Kanae, Horie Mino |
| Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2). Molecular and cellular endocrinology 2016 Sep . Fejzo Marlena Schoenberg, Myhre Ronny, Colodro-Conde Lucía, MacGibbon Kimber W, Sinsheimer Janet S, Reddy M V Prasad Linga, Pajukanta Päivi, Nyholt Dale R, Wright Margaret J, Martin Nicholas G, Engel Stephanie M, Medland Sarah E, Magnus Per, Mullin Patrick |
| An insertion/deletion polymorphism within 3'UTR of RYR2 modulates sudden unexplained death risk in Chinese populations. Forensic science international 2017 Jan 270 165-172. Wang Shouyu, Zhang Zhixiang, Yang Ya, Wang Chaoqun, Tao Ruiyang, Hu Shuxiang, Yin Zhixia, Zhang Qing, Li Lijuan, He Yan, Zhu Shaohua, Li Chengtao, Zhang Suhua, Zhang Jianhua, Sheng Lihui, Wu Fangyu, Luo Bin, Gao Yuzh |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Scientific reports 2016 6 19088. Soueid Jihane, Kourtian Silva, Makhoul Nadine J, Makoukji Joelle, Haddad Sariah, Ghanem Simona S, Kobeissy Firas, Boustany Rose-Ma |
| Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients. BMC medical genetics 2017 Aug 18 (1): 92. Uebe Steffen, Ehrlicher Maria, Ekici Arif Bülent, Behrens Frank, Böhm Beate, Homuth Georg, Schurmann Claudia, Völker Uwe, Jünger Michael, Nauck Matthias, Völzke Henry, Traupe Heiko, Krawczak Michael, Burkhardt Harald, Reis André, Hüffmeier Ulri |
| Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. Circulation. Arrhythmia and electrophysiology 2017 Apr 10 (4): . Landstrom Andrew P, Dailey-Schwartz Andrew L, Rosenfeld Jill A, Yang Yaping, McLean Margaret J, Miyake Christina Y, Valdes Santiago O, Fan Yuxin, Allen Hugh D, Penny Daniel J, Kim Jeffrey |
| Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A. Annals of laboratory medicine 2017 10 38 (1): 54-58. Seo Soo Hyun, Kim So Yeon, Cho Sung Im, Park Hyunwoong, Lee Seungjun, Choi Jong Moon, Kim Man Jin, Lee Jee Soo, Ahn Kyung Jin, Song Mi Kyoung, Bae Eun Jung, Park Sung Sup, Seong Moon W |
| The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia? International journal of cardiology 2017 10 250 139-145. Leinonen Jaakko T, Crotti Lia, Djupsjöbacka Aurora, Castelletti Silvia, Junna Nella, Ghidoni Alice, Tuiskula Annukka M, Spazzolini Carla, Dagradi Federica, Viitasalo Matti, Kontula Kimmo, Kotta Maria-Christina, Widén Elisabeth, Swan Heikki, Schwartz Peter |
| Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity. Clinical genetics 2018 11 95 (3): 356-367. Richard Pascale, Ader Flavie, Roux Maguelonne, Donal Erwan, Eicher Jean-Christophe, Aoutil Nadia, Huttin Olivier, Selton-Suty Christine, Coisne Damien, Jondeau Guillaume, Damy Thibaud, Mansencal Nicolas, Casalta Anne-Claire, Michel Nicolas, Haentjens Julie, Faivre Laurence, Lavoute Cecile, Nguyen Karine, Tregouët David-Alexandre, Habib Gilbert, Charron Philip |
| Molecular Subtyping and Prognostic Assessment Based on Tumor Mutation Burden in Patients with Lung Adenocarcinomas. International journal of molecular sciences 2019 9 20 (17): . Wang Changzheng, Liang Han, Lin Cong, Li Fuqiang, Xie Guoyun, Qiao Sitan, Shi Xulian, Deng Jianlian, Zhao Xin, Wu Kui, Zhang Xiuqi |
| Usefulness of Single Nucleotide Polymorphisms as Predictors of Sudden Cardiac Death. The American journal of cardiology 2019 Mar . Tamariz Leonardo, Balda Javier, Pareja Dennise, Palacio Ana, Myerburg Robert J, Conway Douglas, Davis Lea, Goldberger Jeffrey |
| 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 |
| Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies. Circulation. Genomic and precision medicine 2020 12 14 (1): e003126. Theis Jeanne L, Hu Jessie J, Sundsbak Rhianna S, Evans Jared M, Bamlet William R, Qureshi M Yasir, O'Leary Patrick W, Olson Timothy |
| Genealogy and clinical course of catecholaminergic polymorphic ventricular tachycardia caused by the ryanodine receptor type 2 P2328S mutation. PloS one 2020 12 15 (12): e0243649. Koponen Mikael, Marjamaa Annukka, Tuiskula Annukka M, Viitasalo Matti, Nallinmaa-Luoto Terhi, Leinonen Jaakko T, Widen Elisabeth, Toivonen Lauri, Kontula Kimmo, Swan Heik |
| Biallelic ADGRV1 variants are associated with Rolandic epilepsy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 6 43 (2): 1365-1374. Liu Zhigang, Ye Xingguang, Zhang Jieyan, Wu Benze, Dong Shiwei, Gao Pingmi |
Genomic Association Study for Cognitive Impairment in Parkinson's Disease.
Frontiers in neurology 2021 2 11 579268. Park Kye Won, Jo Sungyang, Kim Mi Sun, Jeon Sang Ryong, Ryu Ho-Sung, Kim Jinhee, Park Young-Min, Koh Seong-Beom, Lee Jae-Hong, Chung Sun |
| Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series. Geriatrics (Basel, Switzerland) 2021 2 6 (1): . Hori Atsushi, Ai Tomohiko, Isshiki Miwa, Motoi Yumiko, Yano Kouji, Tabe Yoko, Hattori Nobutaka, Miida Takas |
| Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome. Circulation. Genomic and precision medicine 2021 12 15 (1): e003589. Ormerod Julian O M, Ormondroyd Elizabeth, Li Yanhui, Taylor John, Wei Jinhong, Guo Wenting, Wang Ruiwu, Sarton Caroline N S, McGuire Karen, Dreau Helene M P, Taylor Jenny C, Ginks Matthew R, Rajappan Kim, Chen S R Wayne, Watkins Hu |
| Pathological and Comprehensive Genetic Investigation of Autopsy Cases of Idiopathic Bradyarrhythmia. Circulation journal : official journal of the Japanese Circulation Society 2022 9 87 (1): 111-119. Hata Yukiko, Ichimata Shojiro, Hirono Keiichi, Yamaguchi Yoshiaki, Oku Yuko, Ichida Fukiko, Nishida Nao |
| Monogenic basis of young-onset cryptogenic stroke: a multicenter study. Annals of translational medicine 2022 May 10 (9): 512. Yuan Wei-Zhuang, Shang Liang, Tian Dai-Shi, Wu Shi-Wen, You Yong, Tian Cheng-Lin, Wu Bo, Liu Jun, Sun Qin-Jian, Liu Qing, Xu Wei-H |
| Prioritizing Autism Risk Genes using Personalized Graphical Models Estimated from Single Cell RNA-seq Data. Journal of the American Statistical Association 2022 5 117 (537): 38-51. Liu Jianyu, Wang Haodong, Sun Wei, Liu Yufe |
| Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents. Journal of pediatric hematology/oncology 2022 5 . Wagener Rabea, Walter Carolin, Surowy Harald M, Brandes Danielle, Soura Stavrieta, Alzoubi Deya, Yasin Layal, Fischer Ute, Dugas Martin, Borkhardt Arndt, Brozou Triantafyll |
| Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population. International journal of molecular sciences 2022 Oct 23 (19): . Olloquequi Jordi, Castro-Santos Patricia, Díaz-Peña Rober |
| Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis. Frontiers in cardiovascular medicine 2021 8 755062. Vähätalo Juha H, Holmström Lauri T A, Pylkäs Katri, Skarp Sini, Porvari Katja, Pakanen Lasse, Kaikkonen Kari S, Perkiömäki Juha S, Kerkelä Risto, Huikuri Heikki V, Myerburg Robert J, Junttila M Juha |
| Genomic Exploration of Essential Hypertension in African-Brazilian Quilombo Populations: A Comprehensive Approach with Pedigree Analysis and Family-Based Association Studies. medRxiv : the preprint server for health sciences 2024 7 . Vinícius Magalhães Borges, Andrea R V R Horimoto, Ellen Marie Wijsman, Lilian Kimura, Kelly Nunes, Alejandro Q Nato, Regina Célia Mingroni-Net |
| Prognostic factors of 87 ovarian yolk sac tumor (OYST) patients and molecular characteristics of persistent and recurrent OYST. Gynecologic oncology 2024 5 187 64-73. Shanhui Liang, Huijuan Ge, Shuling Zhou, Jie Tang, Yanzi Gu, Xiaohua Wu, Jin |
- Page last reviewed:Feb 1, 2024
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