Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 54 Records) |
| Query Trace: Ventricular Septal Defects[original query] |
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| Novel and functional DNA sequence variants within the GATA6 gene promoter in ventricular septal defects. International journal of molecular sciences 2014 15 (7): 12677-87. Li Chunyu, Li Xianke, Pang Shuchao, Chen Wei, Qin Xianyun, Huang Wenhui, Zeng Changqing, Yan |
| Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease. Genetics and molecular research : GMR 2014 13 (2): 3805-11. Zhou K, Wang Y, Peng W, Sun J, Qing Y M, Mo X |
| Maternal medication use, fetal 3435 C>T polymorphism of the ABCB1 gene, and risk of isolated septal defects in a Han Chinese population. Pediatric cardiology 2014 Oct 35 (7): 1132-41. Wang Chuan, Zhou Kaiyu, Xie Liang, Li Yifei, Zhan Yalan, Qiao Lina, Qin Chaoyi, Liu Ruiqi, Hua Yim |
| MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep . Christensen Karen E, Deng Liyuan, Bahous Renata H, Jerome-Majewska Loydie A, Rozen Ri |
| Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population. Italian journal of pediatrics 2016 Nov 42 (1): 102. Feng Yu, Chen Runsen, Mo Xumi |
| Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis. Medicine 2017 May 96 (18): e6857. Zhang Yanwei, Ai Feng, Zheng Jiayong, Peng Bangti |
| Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series. Journal of clinical and diagnostic research : JCDR 2017 Mar 11 (3): GR01-GR04. Borkar Yashvanthi, Nayak Krishnananda, Shetty Ranjan K, Bhat Gopalakrishna, Moka Rajasekh |
| TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population. Genetic testing and molecular biomarkers 2017 Mar . Yang Liping, Gao Xiaobo, Luo Haiyan, Huang Qiuyu, Su Dongmei, Tan Xinyu, Lu Caili |
| Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot. Cellular and molecular biology (Noisy-le-Grand, France) 2018 Mar 64 (4): 103-107. Safari-Arababadi Amin, Behjati-Ardakani Mostafa, Kalantar Seyed Mehdi, Jaafarinia Mojta |
| Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease. Medicina (Kaunas, Lithuania) 2018 10 54 (3): . Khatami Mehri, Mazidi Mansoureh, Taher Shabnam, Heidari Mohammad Mehdi, Hadadzadeh Meh |
| Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects. Congenital heart disease 2018 1 13 (2): 295-304. Soheili Fariborz, Jalili Zahra, Rahbar Mahtab, Khatooni Zahed, Mashayekhi Amir, Jafari Hosse |
| Analysis of MTR and MTRR Gene Polymorphisms in Chinese Patients With Ventricular Septal Defect. Applied immunohistochemistry & molecular morphology : AIMM 2017 Dec . Su Jiang, Li Zhongz |
| 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 |
| 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 |
| 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 |
| First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD). Italian journal of pediatrics 2021 3 47 (1): 70. Sarwar Sumbal, Ehsan Farah, Shabana , Tahir Amna, Jamil Mahrukh, Shahid Saleem Ullah, Khan Asim, Hasnain Shahi |
| Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population. Frontiers in cardiovascular medicine 2021 2 7 617561. Sun Hairui, Hao Xiaoyan, Wang Xin, Zhou Xiaoxue, Zhang Ye, Liu Xiaowei, Han Jiancheng, Gu Xiaoyan, Sun Lin, Zhao Ying, Yi Tong, Zhang Hongjia, He Yih |
| Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects. Current medical science 2021 Oct . Khatami Mehri, Ghorbani Sajedeh, Adriani Mojgan Rezaii, Bahaloo Sahar, Naeini Mehri Azami, Heidari Mohammad Mehdi, Hadadzadeh Meh |
| Association and Interaction Effect of BHMT Gene Polymorphisms and Maternal Dietary Habits with Ventricular Septal Defect in Offspring. Nutrients 2022 8 14 (15): . Luo Manjun, Wang Tingting, Huang Peng, Zhang Senmao, Song Xinli, Sun Mengting, Liu Yiping, Wei Jianhui, Shu Jing, Zhong Taowei, Chen Qian, Zhu Ping, Qin Jia |
| Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population. Italian journal of pediatrics 2022 7 48 (1): 124. Sarwar Sumbal, Shabana , Tahir Amna, Liaqat Zainab, Naseer Saher, Seme Rani Summeya, Mehmood Sabahat, Shahid Saleem Ullah, Hasnain Shahi |
| Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation. Birth defects research 2022 4 114 (10): 478-486. Thiem Corina E, Stegmann Jil D, Hilger Alina C, Waffenschmidt Lea, Bendixen Charlotte, Köllges Ricarda, Schmiedeke Eberhard, Schäfer Frank-Mattias, Lacher Martin, Kosch Ferdinand, Grasshoff-Derr Sabine, Kabs Carmen, Neser Jörg, Jenetzky Ekkehart, Fazaal Julia, Schumacher Johannes, Hoefele Julia, Ludwig Kerstin U, Reutter Hei |
| Association of Maternal Dietary Habits and MTHFD1 Gene Polymorphisms With Ventricular Septal Defects in Offspring: A Case-Control Study. Frontiers in pediatrics 2021 9 785440. Song Xinli, Liu Yiping, Wang Tingting, Zhang Senmao, Sun Mengting, Shu Jing, Wei Jianhui, Diao Jingyi, Li Jinqi, Li Yihuan, Chen Letao, Zhu Ping, Qin Jia |
| Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs). BMC pediatrics 2023 2 23 (1): 67. Sarwar Sumbal, Shabana , Sajjad Khadija, Hasnain Shahi |
| Molecular Genetic Study on HAND2 Gene Promoter in Ventricular Septal Defect. International heart journal 2023 11 64 (6): 1140-1147. Meikun Li, Yahui Cai, Shuchao Pang, Bo Y |
| 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 |
| [Maternal MTR gene polymorphisms and their interactions with periconceptional folic acid supplementation in relation to offspring ventricular septal defects]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2024 9 26 (9): 899-906. Xiao-Rui Ruan, Meng-Ting Sun, Jian-Hui Wei, Man-Jun Luo, Han-Jun Liu, Jia-Peng Tang, Liu-Xuan Li, Jia-Bi Q |
| FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population. BMC medical genomics 2024 8 17 (1): 197. Yunhan Zhang, Xiaoli Dong, Jun Zhang, Miao Zhao, Jiang Wang, Jiayou Chu, Zhaoqing Yang, Shaohui Ma, Keqin Lin, Hao Sun, Zhiling L |
| ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease. Genome medicine 2024 8 16 (1): 97. Xiaoxi Luo, Lifeng Liu, Haowei Rong, Xiangyang Liu, Ling Yang, Nan Li, Hongjun S |
| Association of Maternal Dietary Habits and Infant MTHFR Gene Polymorphisms with Ventricular Septal Defect in Offspring: A Case-Control Study. Nutrients 2024 7 16 (13): . Xiaorui Ruan, Ziye Li, Taowei Zhong, Ridan Lei, Manjun Luo, Mengting Sun, Jiabi Q |
| Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel, Switzerland) 2024 4 14 (8): . Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei L |
- Page last reviewed:Feb 1, 2024
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