Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: Tetralogy of Fallot and NKX2-6[original query] |
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Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. Journal of the American College of Cardiology 2003 Jun 41 (11): 2072-6. Elliott David A, Kirk Edwin P, Yeoh Thomas, Chandar Suchitra, McKenzie Fiona, Taylor Peter, Grossfeld Paul, Fatkin Diane, Jones Owen, Hayes Peter, Feneley Michael, Harvey Richard |
The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? Pediatric cardiology 2008 Jan 29 (1): 126-9. Akçaboy M I, Cengiz F B, Inceo?lu B, Uçar T, Atalay S, Tutar E, Tekin |
NKX2.5 mutations in patients with non-syndromic congenital heart disease. International journal of cardiology 2010 Feb 138 (3): 261-5. Gioli-Pereira Luciana, Pereira Alexandre Costa, Mesquita Sônia M, Xavier-Neto José, Lopes Antônio Augusto, Krieger José Eduar |
Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects. Cardiology in the young 2009 Sep 19 (5): 482-5. Hamanoue Haruka, Rahayuningsih Sri Endah, Hirahara Yuya, Itoh Junko, Yokoyama Utako, Mizuguchi Takeshi, Saitsu Hirotomo, Miyake Noriko, Hirahara Fumiki, Matsumoto Naomic |
GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. Chinese medical journal 2009 Feb 122 (4): 4. Zhang WM, Li XF, Ma ZY, Zhang J, Zhou SH, Li T, Shi L, Li ZZ |
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani |
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clinical genetics 2011 Aug 80 (2): 184-90. De Luca Alessandro, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici M L, Vergara P, De Zorzi A, Versacci P, Digilio M C, Marino B, Dallapiccola |
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. Disease markers 2010 28 (5): 287-92. Guida Valentina, Lepri Francesca, Vijzelaar Raymon, De Zorzi Andrea, Versacci Paolo, Digilio Maria Cristina, Marino Bruno, De Luca Alessandro, Dallapiccola Bru |
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clinical genetics 2010 Dec 78 (6): 533-40. Stallmeyer B, Fenge H, Nowak-Göttl U, Schulze-Bahr |
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. Genetica 2010 Dec 138 (11-12): 1231-40. Peng Ting, Wang Li, Zhou Shu-Feng, Li Xiaoti |
Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot. Pathology 2011 Jun 43 (4): 322-6. Wang Jian, Lu Yanan, Chen Huiwen, Yin Minzhi, Yu Tingting, Fu Qih |
Novel NKX2-5 mutations responsible for congenital heart disease. Genetics and molecular research : GMR 2011 10 (4): 2905-15. Wang J, Liu X Y, Yang Y |
Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 0 22 (2): 141-5. Xiong Fu, Li Qian, Zhang Cuimei, Chen Youming, Li Ping, Wei Xiaofeng, Li Qiang, Zhou Wanjun, Li Liang, Shang Xuan, Xu Xiangm |
Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. American journal of medical genetics. Part A 2014 Dec 164A (12): 3100-7. Baban Anwar, Postma Alex Vincent, Marini Monica, Trocchio Gianluca, Santilli Antonella, Pelegrini Monica, Sirleto Pietro, Lerone Margherita, Albanese Sonia Bernadette, Barnett Phil, Boogerd Cornelis Job, Dallapiccola Bruno, Digilio Maria Cristina, Ravazzolo Roberto, Pongiglione Giaco |
Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. European journal of medical genetics 2014 Oct 57 (10): 579-86. Zhao Lan, Ni Shi-Hong, Liu Xing-Yuan, Wei Dong, Yuan Fang, Xu Lei, Xin-Li , Li Ruo-Gu, Qu Xin-Kai, Xu Ying-Jia, Fang Wei-Yi, Yang Yi-Qing, Qiu Xing-Bi |
Identification of Copy Number Variations in Isolated Tetralogy of Fallot. Pediatric cardiology 2015 Jun . Aguayo-Gómez Adolfo, Arteaga-Vázquez Jazmín, Svyryd Yevgeniya, Calderón-Colmenero Juan, Zamora-González Carlos, Vargas-Alarcón Gilberto, Mutchinick Osvaldo |
PITX2 loss-of-function mutation contributes to tetralogy of Fallot. Gene 2015 Dec . Sun Yu-Min, Wang Jun, Qiu Xing-Biao, Yuan Fang, Xu Ying-Jia, Li Ruo-Gu, Qu Xin-Kai, Huang Ri-Tai, Xue Song, Yang Yi-Qi |
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 |
Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population. International journal of clinical and experimental pathology 2015 8 (11): 14917-24. Cao Yu, Lan Weixing, Li Yaxiong, Wei Chuanyu, Zou Honglin, Jiang Liho |
Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease. Medicina (Kaunas, Lithuania) 2018 10 54 (3): . Khatami Mehri, Mazidi Mansoureh, Taher Shabnam, Heidari Mohammad Mehdi, Hadadzadeh Meh |
The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population. Genetic testing and molecular biomarkers 2019 8 23 (9): 601-609. Shi Yan, Li Yongqing, Wang Yuequn, Zhuang Jian, Wang Heng, Hu Min, Mo Xiaoyang, Yue Shusheng, Chen Yu, Fan Xiongwei, Chen Jimei, Cai Wanwan, Zhu Xiaolan, Wan Yongqi, Zhong Ying, Ye Xiangli, Li Fang, Zhou Zuoqiong, Dai Guo, Luo Rong, Ocorr Karen, Jiang Zhigang, Li Xiaoping, Zhu Ping, Wu Xiushan, Yuan Wuzh |
Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5. Clinical science (London, England : 1979) 2019 Jun . Gao Xiaobo, Zheng Panpan, Yang Liping, Luo Haiyan, Zhang Chen, Qiu Yongqiang, Huang Guoying, Sheng Wei, Ma Xu, Lu Caili |
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 |
GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot. African health sciences 2019 2 18 (4): 922-930. El Bouchikhi Ihssane, Belhassan Khadija, Moufid Fatima Zohra, Houssaini Mohammed Iraqui, Bouguenouch Laila, Samri Imane, Bouhrim Mohamed, Ouldim Karim, Atmani Sam |
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