Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Scoliosis 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 |
Sequencing of the TBX6 Gene in Families with Familial Idiopathic Scoliosis. Spine deformity 2015 Jul 3 (4): 288-296. Baschal Erin E, Swindle Kandice, Justice Cristina M, Baschal Robin M, Perera Anoja, Wethey Cambria I, Poole Alex, Pourquié Olivier, Tassy Olivier, Miller Nancy |
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. The New England journal of medicine 2015 Jan 372 (4): 341-50. Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev Z S, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy K W, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao Hong, An Yu, Zhao Yu, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton V R, Wang H, Ming Y, Kulkarni S, Zhong T P, Giampietro P F, Dunwoodie S L, Cheung S W, Zhang X, Jin L, Lupski J R, Qiu G, Zhang |
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 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 |
Identification of novel FBN1 variations implicated in congenital scoliosis. Journal of human genetics 2019 12 65 (3): 221-230. Lin Mao, Zhao Sen, Liu Gang, Huang Yingzhao, Yu Chenxi, Zhao Yanxue, Wang Lianlei, Zhang Yuanqiang, Yan Zihui, Wang Shengru, Liu Sen, Liu Jiaqi, Ye Yongyu, Chen Yaping, Yang Xu, Tong Bingdu, Wang Zheng, Yang Xinzhuang, Niu Yuchen, Li Xiaoxin, Wang Yipeng, Su Jianzhong, Yuan Jian, Zhao Hengqiang, Zhang Shuyang, Qiu Guixing, , Ikegawa Shiro, Zhang Jianguo, Wu Zhihong, Wu N |
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genetics in medicine : official journal of the American College of Medical Genetics 2019 1 21 (7): 1548-1558. Liu Jiaqi, Wu Nan, , Yang Nan, Takeda Kazuki, Chen Weisheng, Li Weiyu, Du Renqian, Liu Sen, Zhou Yangzhong, Zhang Ling, Liu Zhenlei, Zuo Yuzhi, Zhao Sen, Blank Robert, Pehlivan Davut, Dong Shuangshuang, Zhang Jianguo, Shen Jianxiong, Si Nuo, Wang Yipeng, Liu Gang, Li Shugang, Zhao Yanxue, Zhao Hong, Chen Yixin, Zhao Yu, Song Xiaofei, Hu Jianhua, Lin Mao, Tian Ye, Yuan Bo, Yu Keyi, Niu Yuchen, Yu Bin, Li Xiaoxin, Chen Jia, Yan Zihui, Zhu Qiankun, Meng Xiaolu, Chen Xiaoli, Su Jianzhong, Zhao Xiuli, Wang Xiaoyue, Ming Yue, Li Xiao, Raggio Cathleen L, Zhang Baozhong, Weng Xisheng, Zhang Shuyang, Zhang Xue, Watanabe Kota, Matsumoto Morio, , Jin Li, Shen Yiping, Sobreira Nara L, Posey Jennifer E, Giampietro Philip F, Valle David, , Liu Pengfei, Wu Zhihong, Ikegawa Shiro, Lupski James R, Zhang Feng, Qiu Guixi |
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 |
Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2020 Jul . Feng Xin, Cheung Jason Py, Je Jimmy Sh, Cheung Prudence Wh, Chen Shuxia, Yue Ming, Wang Ni, Choi Vanessa Nt, Yang Xueyan, Song You-Qiang, Luk Keith Dk, Gao |
Molecular identification of T-box transcription factor 6 and prognostic assessment in patients with congenital scoliosis: A single-center study. Frontiers in medicine 2022 8 9 941468. Zhang Wenyan, Yao Ziming, Guo Ruolan, Li Haichong, Zhao Shuang, Li Wei, Zhang Xuejun, Hao Chanju |
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 |
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