Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Tetralogy of Fallot and TBX1[original query] |
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| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of medical genetics 2010 May 47 (5): 321-31. Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Ani |
| Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants. Heart (British Cardiac Society) 2010 Oct 96 (20): 1651-5. Griffin Helen R, Töpf Ana, Glen Elise, Zweier Christiane, Stuart A Graham, Parsons Jonathan, Peart Ian, Deanfield John, O'Sullivan John, Rauch Anita, Scambler Peter, Burn John, Cordell Heather J, Keavney Bernard, Goodship Judith |
| Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. BMC medical genetics 2011 Dec 12 (1): 1. Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K |
| Human gene copy number spectra analysis in congenital heart malformations. Physiological genomics 2012 Feb . Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME |
| Identification of Copy Number Variations in Isolated Tetralogy of Fallot. Pediatric cardiology 2015 Jun . Aguayo-Gómez Adolfo, Arteaga-Vázquez Jazmín, Svyryd Yevgeniya, Calderón-Colmenero Juan, Zamora-González Carlos, Vargas-Alarcón Gilberto, Mutchinick Osvaldo |
| Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. Journal of human genetics 2015 Oct . Yoshida Akiko, Morisaki Hiroko, Nakaji Mai, Kitano Masataka, Kim Ki-Sung, Sagawa Koichi, Ishikawa Shiro, Satokata Ichiro, Mitani Yoshihide, Kato Hitoshi, Hamaoka Kenji, Echigo Shigeyuki, Shiraishi Isao, Morisaki Takayu |
| Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot. Circulation research 2019 Feb 124 (4): 553-563. Page Donna J, Miossec Matthieu J, Williams Simon G, Monaghan Richard M, Fotiou Elisavet, Cordell Heather J, Sutcliffe Louise, Topf Ana, Bourgey Mathieu, Bourque Guillaume, Eveleigh Robert, Dunwoodie Sally L, Winlaw David S, Bhattacharya Shoumo, Breckpot Jeroen, Devriendt Koenraad, Gewillig Marc, Brook J David, Setchfield Kerry J, Bu'Lock Frances A, O'Sullivan John, Stuart Graham, Bezzina Connie R, Mulder Barbara J M, Postma Alex V, Bentham James R, Baron Martin, Bhaskar Sanjeev S, Black Graeme C, Newman William G, Hentges Kathryn E, Lathrop G Mark, Santibanez-Koref Mauro, Keavney Bernard |
| Intronic Polymorphisms in Gene of Second Heart Field as Risk Factors for Human Congenital Heart Disease in a Chinese Population. DNA and cell biology 2019 Apr . Wang Enshi, Nie Yu, Fan Xuesong, Zheng Zhe, Hu Shengsh |
| GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot. African health sciences 2019 2 18 (4): 922-930. El Bouchikhi Ihssane, Belhassan Khadija, Moufid Fatima Zohra, Houssaini Mohammed Iraqui, Bouguenouch Laila, Samri Imane, Bouhrim Mohamed, Ouldim Karim, Atmani Sam |
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