Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2024. (Total: 234130Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 9 (of 9 Records)

Query Trace: Syndrome and TBX5[original query]
[Statistical analysis of 47 cases with Holt-Qram syndrome].
Hunan yi ke da xue xue bao = Hunan yike daxue xuebao = Bulletin of Hunan Medical University 2003 1 26 (3): 244-6.
Yang J F, Hu D X, Zhou X
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
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Cardiovascular research 2015 Jun 106 (3): 520-9.
Behr Elijah R, Savio-Galimberti Eleonora, Barc Julien, Holst Anders G, Petropoulou Evmorfia, Prins Bram P, Jabbari Javad, Torchio Margherita, Berthet Myriam, Mizusawa Yuka, Yang Tao, Nannenberg Eline A, Dagradi Federica, Weeke Peter, Bastiaenan Rachel, Ackerman Michael J, Haunso Stig, Leenhardt Antoine, Kääb Stefan, Probst Vincent, Redon Richard, Sharma Sanjay, Wilde Arthur, Tfelt-Hansen Jacob, Schwartz Peter, Roden Dan M, Bezzina Connie R, Olesen Morten, Darbar Dawood, Guicheney Pascale, Crotti Lia, , Jamshidi Yal
Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients.
Genetics and molecular research : GMR 2015 14 (4): 15471-81.
Wei F J, Cai C Y, Yu P, Lv J, Ling C, Shi W T, Jiao H X, Chang B C, Yang F H, Tian Y, Li M S, Wang Y H, Zou L, Shi J M, Chen L M, Li W
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
TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death.
American journal of medical genetics. Part A 2020 12 185 (3): 923-929.
Markunas Alexandra M, Manivannan Perathu K R, Ezekian Jordan E, Agarwal Agnim, Eisner William, Alsina Katherina, Allen Hugh D, Wray Gregory A, Kim Jeffrey J, Wehrens Xander H T, Landstrom Andrew
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
TOP