Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 55 Records) |
Query Trace: MYL2[original query] |
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Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. Genetic testing and molecular biomarkers 2016 Nov 20 (11): 674-679. Jaafar Nawel, Gómez Juan, Kammoun Ikram, Zairi Ihsen, Amara Wael Ben, Kachboura Salem, Kraiem Sondes, Hammami Mohamed, Iglesias Sara, Alonso Belén, Coto Eliec |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. International journal of molecular sciences 2016 17 (8): . Rubattu Speranza, Bozzao Cristina, Pennacchini Ermelinda, Pagannone Erika, Musumeci Beatrice Maria, Piane Maria, Germani Aldo, Savio Camilla, Francia Pietro, Volpe Massimo, Autore Camillo, Chessa Lucia |
Identification of rs671, a common variant of ALDH2, as a gout susceptibility locus. Scientific reports 2016 6 25360. Sakiyama Masayuki, Matsuo Hirotaka, Nakaoka Hirofumi, Yamamoto Ken, Nakayama Akiyoshi, Nakamura Takahiro, Kawai Sayo, Okada Rieko, Ooyama Hiroshi, Shimizu Toru, Shinomiya Nariyos |
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy. The American journal of cardiology 2016 Jan . Bongini Carolina, Ferrantini Cecilia, Girolami Francesca, Coppini Raffaele, Arretini Anna, Targetti Mattia, Bardi Sara, Castelli Gabriele, Torricelli Francesca, Cecchi Franco, Ackerman Michael J, Padeletti Luigi, Poggesi Corrado, Olivotto Iaco |
Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean men. Journal of human genetics 2016 Jan . Cho Eo Rin, Jee Yon Ho, Kim Sang Won, Sull Jae Woo |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. Circulation. Cardiovascular genetics 2017 Apr 10 (2): . Gómez Juan, Lorca Rebeca, Reguero Julian R, Morís César, Martín María, Tranche Salvador, Alonso Belén, Iglesias Sara, Alvarez Victoria, Díaz-Molina Beatriz, Avanzas Pablo, Coto Eliec |
Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population. Environmental health : a global access science source 2017 Feb 16 (1): 11. Eom Sang-Yong, Hwang Myung Sil, Lim Ji-Ae, Choi Byung-Sun, Kwon Ho-Jang, Park Jung-Duck, Kim Yong-Dae, Kim He |
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 |
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.
Scientific reports 2018 Apr 8 (1): 5701. Lee Ho-Sun, Kim Yongkang, Park Taesu |
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. ESC heart failure 2019 Feb . Jääskeläinen Pertti, Vangipurapu Jagadish, Raivo Joose, Kuulasmaa Teemu, Heliö Tiina, Aalto-Setälä Katriina, Kaartinen Maija, Ilveskoski Erkki, Vanninen Sari, Hämäläinen Liisa, Melin John, Kokkonen Jorma, Nieminen Markku S, , Laakso Markku, Kuusisto Johan |
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies. Cardiology 2019 1 141 (3): 156-166. Rani Deepa Selvi, Nallari Pratibha, Rani Jhansi, Nizamuddin Sheikh, Seelamneni Thulasamma, Narasimhan Calambur, Thangaraj Kumarasa |
Genome-Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate Locus.
Hepatology communications 2020 Aug 4 (8): 1124-1135. Yoshida Ken, Yokota Kazuha, Kutsuwada Yukinobu, Nakayama Kazuhiro, Watanabe Kazuhisa, Matsumoto Ayumi, Miyashita Hiroshi, Khor Seik-Soon, Tokunaga Katsushi, Kawai Yosuke, Nagasaki Masao, Iwamoto Sadahi |
Identification of Genetic Factors Underlying the Association between Sodium Intake Habits and Hypertension Risk. Nutrients 2020 8 12 (9): . Kwon Yu-Jin, Kim Jung Oh, Park Jae-Min, Choi Ja-Eun, Park Da-Hyun, Song Youhyun, Kim Seong-Jin, Lee Ji-Won, Hong Kyung-W |
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers. Journal of the American College of Cardiology 2020 8 76 (5): 550-559. Lorenzini Massimiliano, Norrish Gabrielle, Field Ella, Ochoa Juan Pablo, Cicerchia Marcos, Akhtar Mohammed M, Syrris Petros, Lopes Luis R, Kaski Juan Pablo, Elliott Perry |
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients. Human genetics 2020 7 140 (2): 321-331. Horiuchi Yasue, Matsubayashi Hiroyuki, Kiyozumi Yoshimi, Nishimura Seiichiro, Higashigawa Satomi, Kado Nobuhiro, Nagashima Takeshi, Mizuguchi Maki, Ohnami Sumiko, Arai Makoto, Urakami Kenichi, Kusuhara Masatoshi, Yamaguchi K |
Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology. Circulation. Genomic and precision medicine 2020 2 13 (2): e002824. De Bortoli Marzia, Vio Riccardo, Basso Cristina, Calore Martina, Minervini Giovanni, Angelini Annalisa, Melacini Paola, Vitiello Libero, Vazza Giovanni, Thiene Gaetano, Tosatto Silvio, Corrado Domenico, Iliceto Sabino, Rampazzo Alessandra, Calore Chia |
Associations between KCNQ1 and ITIH4 gene polymorphisms and infant weight gain in early life. Pediatric research 2021 7 91 (5): 1290-1295. Zhang Yuanyuan, Mei Hong, Xu Ke, Li Chunan, Chang Ruixia, Qi Haiqin, Zhang Ya, Zhang Jiandu |
Identification and genetic analysis of rare variants in myosin family genes in 412 Han Chinese congenital heart disease patients. Molecular genetics & genomic medicine 2022 Aug e2041. Zhang Yunqian, Peng Rui, Wang Hongy |
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. Journal of personalized medicine 2022 Apr 12 (5): . Kurzlechner Leonie M, Jones Edward G, Berkman Amy M, Tadros Hanna J, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Kim Jeffrey J, Landstrom Andrew |
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 9 40 (10): 1211-1216. Qiqing Sun, Fangjie Wang, Linbo Su, Kun He, Yingying Li, Chanjuan Hao, Wei Li, Jun G |
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. European heart journal 2023 7 . Mona Allouba, Roddy Walsh, Alaa Afify, Mohammed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis I Theotokis, Ahmed Boraey, Amany Ellithy, Rachel Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James S Ware, Paul J R Barton, Magdi Yacoub, Yasmine Agu |
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children. Circulation. Genomic and precision medicine 2023 6 e004054. Hidekazu Ishida, Jun Narita, Ryo Ishii, Hidehiro Suginobe, Hirofumi Tsuru, Renjie Wang, Chika Yoshihara, Atsuko Ueyama, Kazutoshi Ueda, Masaki Hirose, Kazuhisa Hashimoto, Hiroki Nagano, Shigetoyo Kogaki, Yuki Kuramoto, Yohei Miyashita, Yoshihiro Asano, Keiichi Ozo |
Follicular Thyroid Adenoma and Follicular Thyroid Carcinoma-A Common or Distinct Background? Loss of Heterozygosity in Comprehensive Microarray Study. Cancers 2023 2 15 (3): . Borowczyk Martyna, Dobosz Paula, Szczepanek-Parulska Ewelina, Budny Bart?omiej, D?bicki Szymon, Filipowicz Dorota, Wrotkowska El?bieta, Oszywa Michalina, Verburg Frederik A, Janicka-Jedy?ska Ma?gorzata, Ziemnicka Katarzyna, Rucha?a Mar |
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview. 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 2023 11 . Lisa M Verheul, Martijn H van der Ree, Sanne A Groeneveld, Bart A Mulder, Imke Christiaans, Gijs F L Kapel, Marco Alings, Marianne Bootsma, Daniela Q C M Barge-Schaapveld, Jippe C Balt, Sing-Chien Yap, Ingrid P C Krapels, Rachel M A Ter Bekke, Paul G A Volders, Saskia N van der Crabben, Pieter G Postema, Arthur A M Wilde, Dennis Dooijes, Annette F Baas, Rutger J Hassi |
Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy. JACC. Heart failure 2024 9 . Takashi Hiruma, Shunsuke Inoue, Zhehao Dai, Seitaro Nomura, Toru Kubo, Kenta Sugiura, Atsushi Suzuki, Takeshi Kashimura, Shouji Matsushima, Takanobu Yamada, Takashige Tobita, Manami Katoh, Toshiyuki Ko, Masamichi Ito, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Eiki Takimoto, Hiroshi Akazawa, Hiroyuki Morita, Junichi Yamaguchi, Takayuki Inomata, Hiroyuki Tsutsui, Hiroaki Kitaoka, Hiroyuki Aburatani, Norihiko Takeda, Issei Komu |
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