Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Holt-oram Syndrome[original query] |
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatric research 2005 Nov 58 (5): 981-6. McDermott Deborah A, Bressan Michael C, He Jie, Lee Joseph S, Aftimos Salim, Brueckner Martina, Gilbert Fred, Graham Gail E, Hannibal Mark C, Innis Jeffrey W, Pierpont Mary Ella, Raas-Rothschild Annick, Shanske Alan L, Smith Wendy E, Spencer Robert H, St John-Sutton Martin G, van Maldergem Lionel, Waggoner Darrel J, Weber Matthew, Basson Craig |
Novel TBX5 mutations in patients with Holt-Oram syndrome. Clinical orthopaedics and related research 2007 Sep 462 (): 20-6. Debeer Philippe, Race Valerie, Gewillig Marc, Devriendt Koen, Frijns Jean-Pier |
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 |
TBX5 loss-of-function mutation contributes to atrial fibrillation and atypical Holt-Oram syndrome. Molecular medicine reports 2016 Mar . Guo Dong-Feng, Li Ruo-Gu, Yuan Fang, Shi Hong-Yu, Hou Xu-Min, Qu Xin-Kai, Xu Ying-Jia, Zhang Min, Liu Xu, Jiang Jin-Qi, Yang Yi-Qing, Qiu Xing-Bi |
A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve. Genetics and molecular biology 2020 12 43 (4): e20200142. Jiang Wei-Feng, Xu Ying-Jia, Zhao Cui-Mei, Wang Xin-Hua, Qiu Xing-Biao, Liu Xu, Wu Shao-Hui, Yang Yi-Qi |
A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
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- Page last updated:May 13, 2024
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