Human Genome Epidemiology Literature Finder
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Records 1 - 25 (of 25 Records) |
| Query Trace: Disease and TBX5[original query] |
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| TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric research 2005 Nov 58 (5): 981-6. McDermott Deborah A, Bressan Michael C, He Jie, Lee Joseph S, Aftimos Salim, Brueckner Martina, Gilbert Fred, Graham Gail E, Hannibal Mark C, Innis Jeffrey W, Pierpont Mary Ella, Raas-Rothschild Annick, Shanske Alan L, Smith Wendy E, Spencer Robert H, St John-Sutton Martin G, van Maldergem Lionel, Waggoner Darrel J, Weber Matthew, Basson Craig |
Genome-wide association study of blood pressure and hypertension.
Nature genetics 2009 Jun 41 (6): 677-87. Levy Daniel, Ehret Georg B, Rice Kenneth, Verwoert Germaine C, Launer Lenore J, Dehghan Abbas, Glazer Nicole L, Morrison Alanna C, Johnson Andrew D, Aspelund Thor, Aulchenko Yurii, Lumley Thomas, Köttgen Anna, Vasan Ramachandran S, Rivadeneira Fernando, Eiriksdottir Gudny, Guo Xiuqing, Arking Dan E, Mitchell Gary F, Mattace-Raso Francesco U S, Smith Albert V, Taylor Kent, Scharpf Robert B, Hwang Shih-Jen, Sijbrands Eric J G, Bis Joshua, Harris Tamara B, Ganesh Santhi K, O'Donnell Christopher J, Hofman Albert, Rotter Jerome I, Coresh Josef, Benjamin Emelia J, Uitterlinden André G, Heiss Gerardo, Fox Caroline S, Witteman Jacqueline C M, Boerwinkle Eric, Wang Thomas J, Gudnason Vilmundur, Larson Martin G, Chakravarti Aravinda, Psaty Bruce M, van Duijn Cornelia |
| Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. Chinese medical journal 2009 Jan 122 (1): 30-4. Liu Cai-xia, Shen A-dong, Li Xiao-feng, Jiao Wei-wei, Bai Song, Yuan Feng, Guan Xiao-lei, Zhang Xin-gen, Zhang Gui-rong, Li Zhong-z |
| Genetic analysis of the SIRT1 gene promoter in ventricular septal defects. Biochemical and biophysical research communications 2012 Sep 425 (4): 741-5. Shan Jiping, Pang Shuchao, Wanyan Hongxin, Xie Wen, Qin Xianyun, Yan |
| Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects. Gene 2012 Oct 508 (1): 106-9. Qin Xianyun, Xing Qining, Ma Liming, Meng Haihong, Liu Yumei, Pang Shuchao, Yan |
| Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects. Pediatric cardiology 2012 Dec 33 (8): 1355-61. Pang Shuchao, Shan Jiping, Qiao Yanli, Ma Liming, Qin Xianyun, Wanyan Hongxin, Xing Qining, Wu Guanghua, Yan |
| Identification of functional mutations in GATA4 in patients with congenital heart disease. PloS one 2013 8 (4): e62138. Wang Erli, Sun Shuna, Qiao Bin, Duan Wenyuan, Huang Guoying, An Yu, Xu Shuhua, Zheng Yufang, Su Zhixi, Gu Xun, Jin Li, Wang Hongy |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
Human molecular genetics 2015 Feb 24 (3): 865-74. Lu Xiangfeng, Wang Laiyuan, Lin Xu, Huang Jianfeng, Charles Gu C, He Meian, Shen Hongbing, He Jiang, Zhu Jingwen, Li Huaixing, Hixson James E, Wu Tangchun, Dai Juncheng, Lu Ling, Shen Chong, Chen Shufeng, He Lin, Mo Zengnan, Hao Yongchen, Mo Xingbo, Yang Xueli, Li Jianxin, Cao Jie, Chen Jichun, Fan Zhongjie, Li Ying, Zhao Liancheng, Li Hongfan, Lu Fanghong, Yao Cailiang, Yu Lin, Xu Lihua, Mu Jianjun, Wu Xianping, Deng Ying, Hu Dongsheng, Zhang Weidong, Ji Xu, Guo Dongshuang, Guo Zhirong, Zhou Zhengyuan, Yang Zili, Wang Renping, Yang Jun, Zhou Xiaoyang, Yan Weili, Sun Ningling, Gao Pingjin, Gu Dongfe |
| Association analysis identifies new risk loci for congenital heart disease in Chinese populations. Nature communications 2015 6 8082. Lin Yuan, Guo Xuejiang, Zhao Bijun, Liu Juanjuan, Da Min, Wen Yang, Hu Yuanli, Ni Bixian, Zhang Kai, Yang Shiwei, Xu Jing, Dai Juncheng, Wang Xiaowei, Xia Yankai, Ma Hongxia, Jin Guangfu, Yu Shiqiang, Liu Jiayin, Keavney Bernard D, Goodship Judith A, Cordell Heather J, Wang Xinru, Shen Hongbing, Sha Jiahao, Zhou Zuomin, Chen Yijiang, Mo Xuming, Luo Lingfei, Hu Zhib |
| Molecular Basis of Gene-Gene Interaction: Cyclic Cross-Regulation of Gene Expression and Post-GWAS Gene-Gene Interaction Involved in Atrial Fibrillation. PLoS genetics 2015 Aug 11 (8): e1005393. Huang Yufeng, Wang Chuchu, Yao Yufeng, Zuo Xiaoyu, Chen Shanshan, Xu Chengqi, Zhang Hongfu, Lu Qiulun, Chang Le, Wang Fan, Wang Pengxia, Zhang Rongfeng, Hu Zhenkun, Song Qixue, Yang Xiaowei, Li Cong, Li Sisi, Zhao Yuanyuan, Yang Qin, Yin Dan, Wang Xiaojing, Si Wenxia, Li Xiuchun, Xiong Xin, Wang Dan, Huang Yuan, Luo Chunyan, Li Jia, Wang Jingjing, Chen Jing, Wang Longfei, Wang Li, Han Meng, Ye Jian, Chen Feifei, Liu Jingqiu, Liu Ying, Wu Gang, Yang Bo, Cheng Xiang, Liao Yuhua, Wu Yanxia, Ke Tie, Chen Qiuyun, Tu Xin, Elston Robert, Rao Shaoqi, Yang Yanzong, Xia Yunlong, Wang Qing |
| 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 |
| A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. International journal of molecular medicine 2015 Jul 36 (1): 282-8. Zhou Wei, Zhao Lan, Jiang Jin-Qi, Jiang Wei-Feng, Yang Yi-Qing, Qiu Xing-Bi |
| Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. Journal of human genetics 2015 Oct . Yoshida Akiko, Morisaki Hiroko, Nakaji Mai, Kitano Masataka, Kim Ki-Sung, Sagawa Koichi, Ishikawa Shiro, Satokata Ichiro, Mitani Yoshihide, Kato Hitoshi, Hamaoka Kenji, Echigo Shigeyuki, Shiraishi Isao, Morisaki Takayu |
| Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.
The Lancet. Respiratory medicine 2015 Oct 3 (10): 769-81. Wain Louise V, Shrine Nick, Miller Suzanne, Jackson Victoria E, Ntalla Ioanna, Soler Artigas María, Billington Charlotte K, Kheirallah Abdul Kader, Allen Richard, Cook James P, Probert Kelly, Obeidat Ma'en, Bossé Yohan, Hao Ke, Postma Dirkje S, Paré Peter D, Ramasamy Adaikalavan, , Mägi Reedik, Mihailov Evelin, Reinmaa Eva, Melén Erik, O'Connell Jared, Frangou Eleni, Delaneau Olivier, , Freeman Colin, Petkova Desislava, McCarthy Mark, Sayers Ian, Deloukas Panos, Hubbard Richard, Pavord Ian, Hansell Anna L, Thomson Neil C, Zeggini Eleftheria, Morris Andrew P, Marchini Jonathan, Strachan David P, Tobin Martin D, Hall Ian |
| A TBX5 3'UTR variant increases the risk of congenital heart disease in the Han Chinese population. Cell discovery 2017 3 17026. Wang Feng, Liu Dong, Zhang Ran-Ran, Yu Li-Wei, Zhao Jian-Yuan, Yang Xue-Yan, Jiang Song-Shan, Ma Duan, Qiao Bin, Zhang Feng, Jin Li, Gui Yong-Hao, Wang Hong-Y |
| 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 |
| [Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2018 7 20 (6): 490-496. Chen Le-Tao, Yang Tu-Bao, Wang Ting-Ting, Zheng Zan, Zhao Li-Juan, Ye Zi-Wei, Zhang Sen-Mao, Qin Jia- |
| Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing. Prenatal diagnosis 2018 Jul . Kammoun Molka, Souche Erika, Brady Paul, Ding Jia, Cosemans Nele, Gratacos Eduard, Devriendt Koen, Eixarch Elisenda, Deprest Jan, Vermeesch Joris Robe |
| Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children. Molecular genetics & genomic medicine 2019 Mar e612. Behiry Eman G, Al-Azzouny Mahmoud A, Sabry Dina, Behairy Ola G, Salem Nessrine |
| Identification and functional analysis of genetic variants in TBX5 gene promoter in patients with acute myocardial infarction. BMC cardiovascular disorders 2019 11 19 (1): 265. Wang Shuai, Zhang Jie, He Xiaohui, Zhang Yexin, Chen Jing, Su Qiang, Pang Shuchao, Zhang Shufang, Cui Yinghua, Yan |
| Identification and analysis of KLF13 variants in patients with congenital heart disease. BMC medical genetics 2020 4 21 (1): 78. Li Wenjuan, Li Baolei, Li Tingting, Zhang Ergeng, Wang Qingjie, Chen Sun, Sun K |
| TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. American journal of medical genetics. Part A 2020 12 185 (3): 923-929. Markunas Alexandra M, Manivannan Perathu K R, Ezekian Jordan E, Agarwal Agnim, Eisner William, Alsina Katherina, Allen Hugh D, Wray Gregory A, Kim Jeffrey J, Wehrens Xander H T, Landstrom Andrew |
| Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population. Experimental cell research 2021 10 409 (1): 112869. Yadav Manohar Lal, Ranjan Prashant, Das Parimal, Jain Dharmendra, Kumar Ashok, Mohapatra Bhagyalax |
| Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
eLife 2022 9 11 . Chan Melanie M Y, Sadeghi-Alavijeh Omid, Lopes Filipa M, Hilger Alina C, Stanescu Horia C, Voinescu Catalin D, Beaman Glenda M, Newman William G, Zaniew Marcin, Weber Stefanie, Ho Yee Mang, Connolly John O, Wood Dan, Maj Carlo, Stuckey Alexander, Kousathanas Athanasios, , Kleta Robert, Woolf Adrian S, Bockenhauer Detlef, Levine Adam P, Gale Daniel |
| Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs). BMC pediatrics 2023 2 23 (1): 67. Sarwar Sumbal, Shabana , Sajjad Khadija, Hasnain Shahi |
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