Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 127 Records) |
Query Trace: Tetralogy Of Fallot[original query] |
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Novel Point Mutations of CITED2 Gene Are Associated with Non-familial Congenital Heart Disease (CHD) in Sporadic Pediatric Patients. Applied biochemistry and biotechnology 2019 Sep . Dianatpour Sima, Khatami Mehri, Heidari Mohammad Mehdi, Hadadzadeh Meh |
The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population. Genetic testing and molecular biomarkers 2019 8 23 (9): 601-609. Shi Yan, Li Yongqing, Wang Yuequn, Zhuang Jian, Wang Heng, Hu Min, Mo Xiaoyang, Yue Shusheng, Chen Yu, Fan Xiongwei, Chen Jimei, Cai Wanwan, Zhu Xiaolan, Wan Yongqi, Zhong Ying, Ye Xiangli, Li Fang, Zhou Zuoqiong, Dai Guo, Luo Rong, Ocorr Karen, Jiang Zhigang, Li Xiaoping, Zhu Ping, Wu Xiushan, Yuan Wuzh |
Genetic variants of HIF1? are associated with right ventricular fibrotic load in repaired tetralogy of Fallot patients: a cardiovascular magnetic resonance study. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2019 8 21 (1): 51. Hoang Thanh T, Manso Paulo Henrique, Edman Sharon, Mercer-Rosa Laura, Mitchell Laura E, Sewda Anshuman, Swartz Michael D, Fogel Mark A, Agopian A J, Goldmuntz Elizabe |
The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients. Revista da Associacao Medica Brasileira (1992) 2019 Jul 65 (6): 786-790. Dong Han-Quan, Du Yue-X |
Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5. Clinical science (London, England : 1979) 2019 Jun . Gao Xiaobo, Zheng Panpan, Yang Liping, Luo Haiyan, Zhang Chen, Qiu Yongqiang, Huang Guoying, Sheng Wei, Ma Xu, Lu Caili |
Correlation between pri-miR-124 (rs531564) polymorphism and congenital heart disease susceptibility in Chinese population at two different altitudes: a case-control and in silico study. Environmental science and pollution research international 2019 May . Yang Wenke, Yi Kang, Yu Hongmiao, Ding Yunhan, Li Dehong, Wei Yuping, You Tao, Xie Xiaodo |
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 |
A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF). FEBS open bio 2020 11 11 (2): 375-385. Peng Jiayu, Wang Qingjie, Meng Zhuo, Wang Jian, Zhou Yue, Zhou Shuang, Song Wenting, Chen Sun, Chen Alex F, Sun K |
Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects. The Eurasian journal of medicine 2020 Oct 52 (3): 283-287. El Bouchikhi Ihssane, Bouguenouch Laila, Moufid Fatima Zohra, Belhassan Khadija, Samri Imane, Chaouti Amal, Houssaïni Mohammed Iraqui, Atmani Samir, Ouldim Kar |
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot. Genetics in medicine : official journal of the American College of Medical Genetics 2021 6 23 (10): 1952-1960. Škori?-Milosavljevi? Doris, Lahrouchi Najim, Bosada Fernanda M, Dombrowsky Gregor, Williams Simon G, Lesurf Robert, Tjong Fleur V Y, Walsh Roddy, El Bouchikhi Ihssane, Breckpot Jeroen, Audain Enrique, Ilgun Aho, Beekman Leander, Ratbi Ilham, Strong Alanna, Muenke Maximilian, Heide Solveig, Muir Alison M, Hababa Mariam, Cross Laura, Zhou Dihong, Pastinen Tomi, , Zackai Elaine, Atmani Samir, Ouldim Karim, Adadi Najlae, Steindl Katharina, Rauch Anita, Brook David, Wilsdon Anna, Kuipers Irene, Blom Nico A, Mulder Barbara J, Mefford Heather C, Keren Boris, Joset Pascal, Kruszka Paul, Thiffault Isabelle, Sheppard Sarah E, Roberts Amy, Lodder Elisabeth M, Keavney Bernard D, Clur Sally-Ann B, Mital Seema, Hitz Marc-Philip, Christoffels Vincent M, Postma Alex V, Bezzina Connie |
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature. American journal of medical genetics. Part A 2021 4 185 (7): 2003-2011. Onesimo Roberta, Versacci Paolo, Delogu Angelica Bibiana, De Rosa Gabriella, Pugnaloni Flaminia, Blandino Rita, Leoni Chiara, Calcagni Giulio, Digilio Maria C, Zollino Marcella, Marino Bruno, Zampino Giusep |
Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. Birth defects research 2021 Feb . Padula Amy M, Yang Wei, Schultz Kathleen, Lee Cecilia, Lurmann Fred, Hammond S Katharine, Shaw Gary |
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors. JCI insight 2021 12 7 (2): . Tang Clara Sze Man, Mononen Mimmi, Lam Wai-Yee, Jin Sheng Chih, Zhuang Xuehan, Garcia-Barcelo Maria-Mercè, Lin Qiongfen, Yang Yujia, Sahara Makoto, Eroglu Elif, Chien Kenneth R, Hong Haifa, Tam Paul Kwong Hang, Gruber Peter |
Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot. Journal of thoracic disease 2022 Aug 14 (8): 3008-3015. Pan Yu, Liu Manli, Zhang Songsong, Mei Huaxian, Wu Ji |
WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation. Clinical and translational medicine 2022 Jul 12 (7): e941. Hao Lili, Ma Jing, Wu Feizhen, Ma Xiaojing, Qian Maoxiang, Sheng Wei, Yan Tizhen, Tang Ning, Jiang Xin, Zhang Bowen, Xiao Deyong, Qian Yanyan, Zhang Jin, Jiang Nan, Zhou Wenhao, Chen Weicheng, Ma Duan, Huang Guoyi |
Identification of novel rare copy number variants associated with sporadic tetralogy of Fallot and clinical implications. Clinical genetics 2022 7 102 (5): 391-403. He Guo-Wei, Maslen Cheryl L, Chen Huan-Xin, Hou Hai-Tao, Bai Xiao-Yan, Wang Xiu-Li, Liu Xiao-Cheng, Lu Wan-Li, Chen Xin-Xin, Chen Wei-Dan, Xing Quan-Sheng, Wu Qin, Wang Jun, Yang Q |
Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2. Frontiers in cardiovascular medicine 2022 7 9 863650. Wang Jing, Wang Chunyan, Xie Haiyang, Feng Xiaoyuan, Wei Lei, Wang Binbin, Li Tengyan, Pi Mingan, Gong |
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot. Journal of human genetics 2022 6 67 (10): 613-615. Chelu Alexandru, Williams Simon G, Keavney Bernard D, Talavera Dav |
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions. Heart (British Cardiac Society) 2022 3 108 (14): 1114-1120. Debiec Radoslaw Marek, Hamby Stephen E, Jones Peter D, Safwan Kassem, Sosin Michael, Hetherington Simon Lee, Sprigings David, Sharman David, Lee Kelvin, Salahshouri Pegah, Wheeldon Nigel, Chukwuemeka Andrew, Boutziouka Vasiliki, Elamin Mohamed, Coolman Sue, Asiani Manish, Kharodia Shireen, Skinner Gregory J, Samani Nilesh J, Webb Tom R, Bolger Aidan |
Identification of Rare Variants in Right Ventricular Outflow Tract Obstruction Congenital Heart Disease by Whole-Exome Sequencing. Frontiers in cardiovascular medicine 2022 2 8 811156. Zhou Yue, Bai Kai, Wang Yu, Meng Zhuo, Zhou Shuang, Jiang Shiwei, Wang Hualin, Wang Jian, Yang Mei, Wang Qingjie, Sun Kun, Chen S |
Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies. Balkan journal of medical genetics : BJMG 2021 Nov 24 (2): 39-47. Wang E, Fan X, Nie Y, Zheng Z, Hu |
Patients with repaired tetralogy of Fallot and the HIF1A1744C/T variant have increased imaging markers of diffuse myocardial fibrosis. International journal of cardiology 2022 1 350 33-35. Vaikom House Aswathy K, Chetan Devin, Mital Seema, Grosse-Wortmann La |
Genetic Risk Score Constructed from Polymorphisms in the VEGFA, TBX5, and SMAD7 Genes Provides Novel Insights into the Molecular Mechanisms of the Tetralogy of Fallot and Ventricular Septal Defect (Case-Control Study from the Pakistani Population). The American journal of cardiology 2023 7 203 368-375. Sana Ashiq, Muhammad Farooq Sabar, Syed Najam Hyd |
Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population. Molecular biology reports 2023 4 . Sana Ashiq, Muhammad Farooq Sab |
Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD. Journal of translational medicine 2023 3 21 (1): 160. Jaouadi Hager, Jopling Chris, Bajolle Fanny, Théron Alexis, Faucherre Adèle, Gerard Hilla, Al Dybiat Sarab, Ovaert Caroline, Bonnet Damien, Avierinos Jean-François, Zaffran Stépha |
Association of genetic and sulcal traits with executive function in congenital heart disease. Annals of clinical and translational neurology 2023 11 . Lara Maleyeff, Jane W Newburger, David Wypij, Nina H Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K Chung, John Cleveland, Sean Cunningham, Bruce D Gelb, Elizabeth Goldmuntz, Donald J Hagler, Hao Huang, Eileen King, Patrick McQuillen, Thomas A Miller, Ami Norris-Brilliant, George A Porter, Amy E Roberts, P Ellen Grant, Kiho Im, Sarah U Mort |
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
Single-Cell Reconstruction and Mutation Enrichment Analysis Identifies Dysregulated Cardiomyocyte and Endothelial Cells in Congenital Heart Disease. Physiological genomics 2023 10 . Richa Tambi, Binte Ashraf, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Samah Alasrawi, Martina Brueckner, Wolfgang M Kuebler, Wendy Chung, Alawi Alsheikh-Ali, Roberto M Di Donato, Mohammed Uddin, Bakhrom K Berdi |
Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot. Frontiers in cardiovascular medicine 2023 10 10 1249605. Drayton C Harvey, Riya Verma, Brandon Sedaghat, Brooke E Hjelm, Sarah U Morton, Jon G Seidman, S Ram Kum |
Somatic GATA4 mutation contributes to tetralogy of Fallot. Experimental and therapeutic medicine 2024 1 27 (2): 91. Pradhan Abhinav, Yan-Jie Li, Ri-Tai Huang, Xing-Yuan Liu, Jia-Ning Gu, Chen-Xi Yang, Ying-Jia Xu, Juan Wang, Yi-Qing Ya |
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- Page last updated:Apr 22, 2024
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