Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Disease and TBX6[original query] |
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| The association analysis of TBX6 polymorphism with susceptibility to congenital scoliosis in a Chinese Han population. Spine 2010 Apr 35 (9): 983-8. Fei Qi, Wu Zhihong, Wang Hai, Zhou Xi, Wang Naiguo, Ding Yaozhong, Wang Yipeng, Qiu Guixi |
| Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. Clinical genetics 2015 Nov . Waschk Daniel E J, Tewes Ann-Christin, Römer Thomas, Hucke Jürgen, Kapczuk Karina, Schippert Cordula, Hillemanns Peter, Wieacker Peter, Ledig Susan |
| Response to Lefebvre et al. Clinical genetics 2017 10 92 (5): 563-564. Takeda K, Kou I, Kawakami N, Yasuhiko Y, Ogura Y, Imagawa E, Miyake N, Matsumoto N, Sudo H, Kotani T, , Nakamura M, Matsumoto M, Watanabe K, Ikegawa |
| Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. Human mutation 2017 03 38 (3): 317-323. Takeda Kazuki, Kou Ikuyo, Kawakami Noriaki, Iida Aritoshi, Nakajima Masahiro, Ogura Yoji, Imagawa Eri, Miyake Noriko, Matsumoto Naomichi, Yasuhiko Yukuto, Sudo Hideki, Kotani Toshiaki, , Nakamura Masaya, Matsumoto Morio, Watanabe Kota, Ikegawa Shi |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
Human genetics 2018 Jul 137 (6-7): 553-567. Liu Jiaqi, Zhou Yangzhong, Liu Sen, Song Xiaofei, Yang Xin-Zhuang, Fan Yanhui, Chen Weisheng, Akdemir Zeynep Coban, Yan Zihui, Zuo Yuzhi, Du Renqian, Liu Zhenlei, Yuan Bo, Zhao Sen, Liu Gang, Chen Yixin, Zhao Yanxue, Lin Mao, Zhu Qiankun, Niu Yuchen, Liu Pengfei, Ikegawa Shiro, Song You-Qiang, Posey Jennifer E, Qiu Guixing, , Zhang Feng, Wu Zhihong, Lupski James R, Wu N |
| TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Human molecular genetics 2018 10 28 (4): 539-547. Yang Nan, Wu Nan, Zhang Ling, Zhao Yanxue, Liu Jiaqi, Liang Xiangyu, Ren Xiaojun, Li Weiyu, Chen Weisheng, Dong Shuangshuang, Zhao Sen, Lin Jiachen, Xiang Hang, Xue Huadan, Chen Lu, Sun Hao, Zhang Jianguo, Shi Jiangang, Zhang Shuyang, Lu Daru, Wu Xiaohui, Jin Li, Ding Jiandong, Qiu Guixing, Wu Zhihong, Lupski James R, Zhang Fe |
| TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human mutation 2019 9 41 (1): 182-195. Chen Weisheng, Lin Jiachen, Wang Lianlei, Li Xiaoxin, Zhao Sen, Liu Jiaqi, Akdemir Zeynep C, Zhao Yanxue, Du Renqian, Ye Yongyu, Song Xiaofei, Zhang Yuanqiang, Yan Zihui, Yang Xinzhuang, Lin Mao, Shen Jianxiong, Wang Shengru, Gao Na, Yang Ying, Liu Ying, Li Wenli, Liu Jia, Zhang Na, Yang Xu, Xu Yuan, Zhang Jianguo, Delgado Mauricio R, Posey Jennifer E, Qiu Guixing, Rios Jonathan J, Liu Pengfei, Wise Carol A, Zhang Feng, Wu Zhihong, Lupski James R, Wu N |
| Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. Molecular genetics and genomics : MGG 2019 1 294 (2): 493-500. Dong Shuangshuang, Wang Chunyan, Li Xueping, Shen Qian, Fu Xiaoyi, Wu Mingyan, Song Chengcheng, Yang Nan, Wu Yanhua, Wang Hongyan, Jin Li, Xu Hong, Zhang Fe |
| Mutational burden and potential oligogenic model of TBX6-mediated genes in congenital scoliosis. Molecular genetics & genomic medicine 2020 8 8 (10): e1453. Yang Yang, Zhao Sen, Zhang Yuanqiang, Wang Shengru, Shao Jiashen, Liu Bowen, Li Yaqi, Yan Zihui, Niu Yuchen, Li Xiaoxin, Wang Lianlei, Ye Yongyu, Weng Xisheng, Wu Zhihong, , Zhang Jianguo, Wu N |
| Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney international 2020 May . Yang Nan, Wu Nan, Dong Shuangshuang, Zhang Ling, Zhao Yanxue, Chen Weisheng, Du Renqian, Song Chengcheng, Ren Xiaojun, Liu Jiaqi, Pehlivan Davut, Liu Zhenlei, Rao Jia, Wang Chunyan, Zhao Sen, Breman Amy M, Xue Huadan, Sun Hao, Shen Jianxiong, Zhang Shuyang, Posey Jennifer E, Xu Hong, Jin Li, Zhang Jianguo, Liu Pengfei, Sanna-Cherchi Simone, Qiu Guixing, Wu Zhihong, Lupski James R, Zhang Fe |
| Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis. Journal of pediatric genetics 2022 10 11 (4): 287-291. Murakami Kohei, Kikugawa Shingo, Seki Shoji, Terai Hidetomi, Suzuki Takako, Nakano Masaki, Takahashi Jun, Nakamura Yuk |
| Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population. Molecular genetics & genomic medicine 2023 10 e2280. Kaizhen Su, Han Liu, Xiaoqun Ye, Hangmei Jin, Zhenwei Xie, Chunbo Yang, Daizhan Zhou, Hefeng Huang, Yanting |
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