Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Syndrome and 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 |
| 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 |
| 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 |
| 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 |
| 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, |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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