Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 31 Records) |
Query Trace: Disease and MYH6[original query] |
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Genome-wide association analysis identifies multiple loci related to resting heart rate.
Human molecular genetics 2010 Oct 19 (19): 3885-94. Eijgelsheim Mark, Newton-Cheh Christopher, Sotoodehnia Nona, de Bakker Paul I W, Müller Martina, Morrison Alanna C, Smith Albert V, Isaacs Aaron, Sanna Serena, Dörr Marcus, Navarro Pau, Fuchsberger Christian, Nolte Ilja M, de Geus Eco J C, Estrada Karol, Hwang Shih-Jen, Bis Joshua C, Rückert Ina-Maria, Alonso Alvaro, Launer Lenore J, Hottenga Jouke Jan, Rivadeneira Fernando, Noseworthy Peter A, Rice Kenneth M, Perz Siegfried, Arking Dan E, Spector Tim D, Kors Jan A, Aulchenko Yurii S, Tarasov Kirill V, Homuth Georg, Wild Sarah H, Marroni Fabio, Gieger Christian, Licht Carmilla M, Prineas Ronald J, Hofman Albert, Rotter Jerome I, Hicks Andrew A, Ernst Florian, Najjar Samer S, Wright Alan F, Peters Annette, Fox Ervin R, Oostra Ben A, Kroemer Heyo K, Couper David, Völzke Henry, Campbell Harry, Meitinger Thomas, Uda Manuela, Witteman Jacqueline C M, Psaty Bruce M, Wichmann H-Erich, Harris Tamara B, Kääb Stefan, Siscovick David S, Jamshidi Yalda, Uitterlinden André G, Folsom Aaron R, Larson Martin G, Wilson James F, Penninx Brenda W, Snieder Harold, Pramstaller Peter P, van Duijn Cornelia M, Lakatta Edward G, Felix Stephan B, Gudnason Vilmundur, Pfeufer Arne, Heckbert Susan R, Stricker Bruno H Ch, Boerwinkle Eric, O'Donnell Christopher |
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PloS one 2011 6 (12): 12. Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C |
High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. BMC medical genetics 2012 13 (1): 17. Santos Susana, Marques Vanda, Pires Marina, Silveira Leonor, Oliveira Helena, Lança Vasco, Brito Dulce, Madeira Hugo, Esteves J Fonseca, Freitas António, Carreira Isabel M, Gaspar Isabel M, Monteiro Carolino, Fernandes Alexandra |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. Heart and vessels 2015 Mar 30 (2): 258-64. Tian Tao, Wang Jizheng, Wang Hu, Sun Kai, Wang Yilu, Jia Lei, Zou Yubao, Hui Rutai, Zhou Xianliang, Song L |
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects. American journal of medical genetics. Part A 2015 Aug 167 (8): 1822-9. Jia Yaojuan, Louw Jacoba J, Breckpot Jeroen, Callewaert Bert, Barrea Catherine, Sznajer Yves, Gewillig Marc, Souche Erika, Dehaspe Luc, Vermeesch Joris Robert, Lambrechts Diether, Devriendt Koenraad, Corveleyn Anni |
Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy. International journal of molecular medicine 2015 Oct . Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
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 |
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 |
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. PLoS genetics 2016 Apr 12 (4): e1005963. Priest James R, Osoegawa Kazutoyo, Mohammed Nebil, Nanda Vivek, Kundu Ramendra, Schultz Kathleen, Lammer Edward J, Girirajan Santhosh, Scheetz Todd, Waggott Daryl, Haddad Francois, Reddy Sushma, Bernstein Daniel, Burns Trudy, Steimle Jeffrey D, Yang Xinan H, Moskowitz Ivan P, Hurles Matthew, Lifton Richard P, Nickerson Debbie, Bamshad Michael, Eichler Evan E, Mital Seema, Sheffield Val, Quertermous Thomas, Gelb Bruce D, Portman Michael, Ashley Euan |
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 MYH6 variants in hypoplastic left heart syndrome. Physiological genomics 2016 12 48 (12): 912-921. Tomita-Mitchell Aoy, Stamm Karl D, Mahnke Donna K, Kim Min-Su, Hidestrand Pip M, Liang Huan Ling, Goetsch Mary A, Hidestrand Mats, Simpson Pippa, Pelech Andrew N, Tweddell James S, Benson D Woodrow, Lough John W, Mitchell Michael |
Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect. European journal of medical genetics 2017 Apr . Chen Huan-Xin, Zhang Xi, Hou Hai-Tao, Wang Jun, Yang Qin, Wang Xiu-Li, He Guo-W |
A Missense Variant in PLEC Increases Risk of Atrial Fibrillation. Journal of the American College of Cardiology 2017 Oct 70 (17): 2157-2168. Thorolfsdottir Rosa B, Sveinbjornsson Gardar, Sulem Patrick, Helgadottir Anna, Gretarsdottir Solveig, Benonisdottir Stefania, Magnusdottir Audur, Davidsson Olafur B, Rajamani Sridharan, Roden Dan M, Darbar Dawood, Pedersen Terje R, Sabatine Marc S, Jonsdottir Ingileif, Arnar David O, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Holm Hilma, Stefansson Ka |
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature genetics 2017 10 49 (11): 1593-1601. Jin Sheng Chih, Homsy Jason, Zaidi Samir, Lu Qiongshi, Morton Sarah, DePalma Steven R, Zeng Xue, Qi Hongjian, Chang Weni, Sierant Michael C, Hung Wei-Chien, Haider Shozeb, Zhang Junhui, Knight James, Bjornson Robert D, Castaldi Christopher, Tikhonoa Irina R, Bilguvar Kaya, Mane Shrikant M, Sanders Stephan J, Mital Seema, Russell Mark W, Gaynor J William, Deanfield John, Giardini Alessandro, Porter George A, Srivastava Deepak, Lo Cecelia W, Shen Yufeng, Watkins W Scott, Yandell Mark, Yost H Joseph, Tristani-Firouzi Martin, Newburger Jane W, Roberts Amy E, Kim Richard, Zhao Hongyu, Kaltman Jonathan R, Goldmuntz Elizabeth, Chung Wendy K, Seidman Jonathan G, Gelb Bruce D, Seidman Christine E, Lifton Richard P, Brueckner Marti |
Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES). Medical science monitor : international medical journal of experimental and clinical research 2018 Mar 24 1340-1358. Liu Yong, Cao Yu, Li Yaxiong, Lei Dongyun, Li Lin, Hou Zong Liu, Han Shen, Meng Mingyao, Shi Jianlin, Zhang Yayong, Wang Yi, Niu Zhaoyi, Xie Yanhua, Xiao Benshan, Wang Yuanfei, Li Xiao, Yang Lirong, Wang Wenju, Jiang Liho |
Sarcomere variants in arrhythmogenic cardiomyopathy: Pathogenic factor or bystander? Gene 2019 Mar 687 82-89. Chen Kai, Rao Man, Guo Guangran, Chen Xiao, Chen Liang, Song Jiangpi |
Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease. Pediatric cardiology 2018 Jan . Pulignani Silvia, Vecoli Cecilia, Borghini Andrea, Foffa Ilenia, Ait-Alì Lamia, Andreassi Maria Graz |
Identification of key pathways and genes in PTEN mutation prostate cancer by bioinformatics analysis. BMC medical genetics 2019 12 20 (1): 191. Sun Jian, Li Shugen, Wang Fei, Fan Caibin, Wang Jianqi |
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 86-93. Singer Emma S, Ross Samantha B, Skinner Jon R, Weintraub Robert G, Ingles Jodie, Semsarian Christopher, Bagnall Richard |
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 |
Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases. Cardiovascular research 2020 1 116 (13): 2116-2130. Hayashi Kenshi, Teramoto Ryota, Nomura Akihiro, Asano Yoshihiro, Beerens Manu, Kurata Yasutaka, Kobayashi Isao, Fujino Noboru, Furusho Hiroshi, Sakata Kenji, Onoue Kenji, Chiang David Y, Kiviniemi Tuomas O, Buys Eva, Sips Patrick, Burch Micah L, Zhao Yanbin, Kelly Amy E, Namura Masanobu, Kita Yoshihito, Tsuchiya Taketsugu, Kaku Bunji, Oe Kotaro, Takeda Yuko, Konno Tetsuo, Inoue Masaru, Fujita Takashi, Kato Takeshi, Funada Akira, Tada Hayato, Hodatsu Akihiko, Nakanishi Chiaki, Sakamoto Yuichiro, Tsuda Toyonobu, Nagata Yoji, Tanaka Yoshihiro, Okada Hirofumi, Usuda Keisuke, Cui Shihe, Saito Yoshihiko, MacRae Calum A, Takashima Seiji, Yamagishi Masakazu, Kawashiri Masa-Aki, Takamura Masayu |
Genetic predictors of sick sinus syndrome. Molecular biology reports 2021 7 48 (6): 5355-5362. Timasheva Yanina, Badykov Marat, Akhmadishina Leysan, Nasibullin Timur, Badykova Elena, Pushkareva Alfiya, Plechev Vladimir, Sagitov Ildus, Zagidullin Nauf |
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 |
Genetic insight into sick sinus syndrome.
European heart journal 2021 Feb . Thorolfsdottir Rosa B, Sveinbjornsson Gardar, Aegisdottir Hildur M, Benonisdottir Stefania, Stefansdottir Lilja, Ivarsdottir Erna V, Halldorsson Gisli H, Sigurdsson Jon K, Torp-Pedersen Christian, Weeke Peter E, Brunak Søren, Westergaard David, Pedersen Ole B, Sorensen Erik, Nielsen Kaspar R, Burgdorf Kristoffer S, Banasik Karina, Brumpton Ben, Zhou Wei, Oddsson Asmundur, Tragante Vinicius, Hjorleifsson Kristjan E, Davidsson Olafur B, Rajamani Sridharan, Jonsson Stefan, Torfason Bjarni, Valgardsson Atli S, Thorgeirsson Gudmundur, Frigge Michael L, Thorleifsson Gudmar, Norddahl Gudmundur L, Helgadottir Anna, Gretarsdottir Solveig, Sulem Patrick, Jonsdottir Ingileif, Willer Cristen J, Hveem Kristian, Bundgaard Henning, Ullum Henrik, Arnar David O, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Holm Hilma, Stefansson Kari, |
Whole exome analysis reveals the genomic profiling related to chemo-resistance in Chinese population with limited-disease small cell lung cancer. Cancer medicine 2022 Jun . Yu Jiangyong, Zhao Shuangtao, Su Zhe, Song Chengli, Wu Lihong, Wang Jingbo, Bi Nan, Wang Lvh |
Genetic insight into sick sinus syndrome.
European heart journal 2021 May 42 (20): 1959-1971. Thorolfsdottir Rosa B, Sveinbjornsson Gardar, Aegisdottir Hildur M, Benonisdottir Stefania, Stefansdottir Lilja, Ivarsdottir Erna V, Halldorsson Gisli H, Sigurdsson Jon K, Torp-Pedersen Christian, Weeke Peter E, Brunak Søren, Westergaard David, Pedersen Ole B, Sorensen Erik, Nielsen Kaspar R, Burgdorf Kristoffer S, Banasik Karina, Brumpton Ben, Zhou Wei, Oddsson Asmundur, Tragante Vinicius, Hjorleifsson Kristjan E, Davidsson Olafur B, Rajamani Sridharan, Jonsson Stefan, Torfason Bjarni, Valgardsson Atli S, Thorgeirsson Gudmundur, Frigge Michael L, Thorleifsson Gudmar, Norddahl Gudmundur L, Helgadottir Anna, Gretarsdottir Solveig, Sulem Patrick, Jonsdottir Ingileif, Willer Cristen J, Hveem Kristian, Bundgaard Henning, Ullum Henrik, Arnar David O, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Holm Hilma, Stefansson Kari, |
Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India. BMC pediatrics 2023 6 23 (1): 290. Prachi Kukshal, Radha O Joshi, Ajay Kumar, Shadab Ahamad, Prabhatha Rashmi Murthy, Yogesh Sathe, Krishna Manohar, Soma Guhathakurta, Subramanian Chellapp |
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China. BMC genomics 2023 2 24 (1): 57. Wei Si-Jie, Du Jin-Liang, Wang Yue-Bing, Qu Peng-Fei, Ma Lin, Sun Zhong-Chun, Tang Xue, Liu Kai, Xi Yan-Mei, Nie Sheng-Jie, Jia Peng-Lin, Long Wu, Qu Yong-Qiang, Li Yu-Hua, Lei Pu-Pi |
Single-Cell Reconstruction and Mutation Enrichment Analysis Identifies Dysregulated Cardiomyocyte and Endothelial Cells in Congenital Heart Disease. Physiological genomics 2023 10 . Richa Tambi, Binte Ashraf, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Samah Alasrawi, Martina Brueckner, Wolfgang M Kuebler, Wendy Chung, Alawi Alsheikh-Ali, Roberto M Di Donato, Mohammed Uddin, Bakhrom K Berdi |
Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases. Scientific reports 2023 10 13 (1): 16769. Ishani Mhatre, Habiba Abdelhalim, William Degroat, Shreya Ashok, Bruce T Liang, Zeeshan Ahm |
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- Page last updated:Apr 16, 2024
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