Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: TBX6[original query] |
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A missense T (Brachyury) mutation contributes to vertebral malformations. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2008 Oct 23 (10): 1576-83. Ghebranious Nader, Blank Robert D, Raggio Cathleen L, Staubli Justin, McPherson Elizabeth, Ivacic Lynn, Rasmussen Kristen, Jacobsen F Stig, Faciszewski Thomas, Burmester James K, Pauli Richard M, Boachie-Adjei Oheneba, Glurich Ingrid, Giampietro Philip |
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 |
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet journal of rare diseases 2013 8 (1): 125. Sandbacka Maria, Laivuori Hannele, Freitas Érika, Halttunen Mervi, Jokimaa Varpu, Morin-Papunen Laure, Rosenberg Carla, Aittomäki Kristii |
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 |
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 |
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 |
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways. Human genetics 2016 Sep . Hagen Erin M, Sicko Robert J, Kay Denise M, Rigler Shannon L, Dimopoulos Aggeliki, Ahmad Shabbir, Doleman Margaret H, Fan Ruzong, Romitti Paul A, Browne Marilyn L, Caggana Michele, Brody Lawrence C, Shaw Gary M, Jelliffe-Pawlowski Laura L, Mills James |
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 |
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics 2019 01 51 (1): 117-127. Verbitsky Miguel, Westland Rik, Perez Alejandra, Kiryluk Krzysztof, Liu Qingxue, Krithivasan Priya, Mitrotti Adele, Fasel David A, Batourina Ekaterina, Sampson Matthew G, Bodria Monica, Werth Max, Kao Charlly, Martino Jeremiah, Capone Valentina P, Vivante Asaf, Shril Shirlee, Kil Byum Hee, Marasà Maddalena, Zhang Jun Y, Na Young-Ji, Lim Tze Y, Ahram Dina, Weng Patricia L, Heinzen Erin L, Carrea Alba, Piaggio Giorgio, Gesualdo Loreto, Manca Valeria, Masnata Giuseppe, Gigante Maddalena, Cusi Daniele, Izzi Claudia, Scolari Francesco, van Wijk Joanna A E, Saraga Marijan, Santoro Domenico, Conti Giovanni, Zamboli Pasquale, White Hope, Drozdz Dorota, Zachwieja Katarzyna, Miklaszewska Monika, Tkaczyk Marcin, Tomczyk Daria, Krakowska Anna, Sikora Przemyslaw, Jarmoli?ski Tomasz, Borszewska-Kornacka Maria K, Pawluch Robert, Szczepanska Maria, Adamczyk Piotr, Mizerska-Wasiak Malgorzata, Krzemien Grazyna, Szmigielska Agnieszka, Zaniew Marcin, Dobson Mark G, Darlow John M, Puri Prem, Barton David E, Furth Susan L, Warady Bradley A, Gucev Zoran, Lozanovski Vladimir J, Tasic Velibor, Pisani Isabella, Allegri Landino, Rodas Lida M, Campistol Josep M, Jeanpierre Cécile, Alam Shumyle, Casale Pasquale, Wong Craig S, Lin Fangming, Miranda Débora M, Oliveira Eduardo A, Simões-E-Silva Ana Cristina, Barasch Jonathan M, Levy Brynn, Wu Nan, Hildebrandt Friedhelm, Ghiggeri Gian Marco, Latos-Bielenska Anna, Materna-Kiryluk Anna, Zhang Feng, Hakonarson Hakon, Papaioannou Virginia E, Mendelsohn Cathy L, Gharavi Ali G, Sanna-Cherchi Simo |
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 |
Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia. Journal of pediatric and adolescent gynecology 2019 6 32 (5): 550-554. Chu Chunfang, Li Lin, Lu Dan, Duan Ai-Hong, Luo Li-Jing, Li Shenghui, Yin Chengho |
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. Frontiers in genetics 2019 10 15. Xie Huilin, Hong Nanchao, Zhang Erge, Li Fen, Sun Kun, Yu |
Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019 2 13 (1): 35-40. Tewes Ann-Christin, Hucke Jürgen, Römer Thomas, Kapczuk Karina, Schippert Cordula, Hillemanns Peter, Wieacker Peter, Ledig Susan |
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 |
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 |
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 |
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 |
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American journal of human genetics 2021 Jan . Chen Na, Zhao Sen, Jolly Angad, Wang Lianlei, Pan Hongxin, Yuan Jian, Chen Shaoke, Koch André, Ma Congcong, Tian Weijie, Jia Ziqi, Kang Jia, Zhao Lina, Qin Chenglu, Fan Xin, Rall Katharina, Coban-Akdemir Zeynep, Chen Zefu, Jhangiani Shalini, Liang Ze, Niu Yuchen, Li Xiaoxin, Yan Zihui, Wu Yong, Dong Shuangshuang, Song Chengcheng, Qiu Guixing, Zhang Shuyang, Liu Pengfei, Posey Jennifer E, Zhang Feng, Luo Guangnan, Wu Zhihong, , Su Jianzhong, Zhang Jianguo, Chen Eugenia Y, Rouskas Konstantinos, Glentis Stavros, Bacopoulou Flora, Deligeoroglou Efthymios, Chrousos George, Lyonnet Stanislas, Polak Michel, Rosenberg Carla, Dingeldein Irene, Bonilla Ximena, Borel Christelle, Gibbs Richard A, Dietrich Jennifer E, Dimas Antigone S, Antonarakis Stylianos E, Brucker Sara Y, Lupski James R, Wu Nan, Zhu L |
Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2022 9 24 (11): 2262-2273. Ma Congcong, Chen Na, Jolly Angad, Zhao Sen, Coban-Akdemir Zeynep, Tian Weijie, Kang Jia, Ye Yang, Wang Yuan, Koch André, Zhang Yuanqiang, Qin Chenglu, Bonilla Ximena, Borel Christelle, Rall Katharina, Chen Zefu, Jhangiani Shalini, Niu Yuchen, Li Xiaoxin, Qiu Guixing, Zhang Shuyang, Luo Guangnan, Wu Zhihong, Bacopoulou Flora, Deligeoroglou Efthymios, Zhang Terry Jianguo, Rosenberg Carla, Gibbs Richard A, Dietrich Jennifer E, Dimas Antigone S, Liu Pengfei, Antonarakis Stylianos E, Brucker Sara Y, Posey Jennifer E, Lupski James R, Wu Nan, Zhu Lan, |
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 |
Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis. Clinica chimica acta; international journal of clinical chemistry 2023 11 552 117671. Lan Liu, Jiamin Wang, Xijing Liu, Jing Wang, Lin Chen, Hongmei Zhu, Jingqun Mai, Ting Hu, Shanling L |
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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