Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 765 Records) |
| Query Trace: Congenital heart[original query] |
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| A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect. Prenatal diagnosis 2022 12 43 (3): 275-279. Wang Yu, Dai Xiaohui, Liu Hanmin, Peng Jin, Chen Ji |
| Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder. American journal of medical genetics. Part A 2022 12 191 (3): 882-892. Takagi Minako, Ono Shin, Kumaki Tatsuro, Nishimura Naoto, Murakami Hiroaki, Enomoto Yumi, Naruto Takuya, Ueda Hideaki, Kurosawa Ken |
| Associations between NKX2-5 gene polymorphisms and congenital heart disease in the Chinese Tibetan population. American journal of translational research 2022 12 14 (11): 8407-8415. Ma Qiang, Yang Yingzhong, Liu Yongni |
| A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects. European journal of medical research 2022 12 27 (1): 286. Tabib Avisa, Talebi Taravat, Ghasemi Serwa, Pourirahim Maryam, Naderi Niloofar, Maleki Majid, Kalayinia Sami |
| Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome. HGG advances 2023 9 4 (4): 100232. Elizabeth E Blue, Janson J White, Michael K Dush, William W Gordon, Brent H Wyatt, Peter White, Colby T Marvin, Emmi Helle, Tiina Ojala, James R Priest, Mary M Jenkins, Lynn M Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C Brody, Kim L McBride, Vidu Garg, Gary M Shaw, Paul A Romitti, Wendy N Nembhard, Marilyn L Browne, Martha M Werler, Denise M Kay, , , Seema Mital, Jessica X Chong, Nanette M Nascone-Yoder, Michael J Bamsh |
| Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet journal of rare diseases 2023 9 18 (1): 284. Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-En Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wa |
| Association of Maternal Folate Intake and Offspring MTHFD1 and MTHFD2 Genes with Congenital Heart Disease. Nutrients 2023 8 15 (16): . Hanjun Liu, Jun Ou, Yige Chen, Qian Chen, Manjun Luo, Tingting Wang, Jiabi Q |
| Investigation of the Role of BMP2 and -4 in ASD, VSD and Complex Congenital Heart Disease. Diagnostics (Basel, Switzerland) 2023 8 13 (16): . Dimitrios Bobos, Giannoula Soufla, Dimitrios C Angouras, Ioannis Lekakis, Sotirios Georgopoulos, Euthemia Melissa |
| Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve. JAMA cardiology 2023 7 . Idit Tessler, Juliette Albuisson, Rebeca Piñeiro-Sabarís, Aline Verstraeten, Hatem Elif Kamber Kaya, Marcos Siguero-Álvarez, Guillaume Goudot, Donal MacGrogan, Ilse Luyckx, Shoshana Shpitzen, Galina Levin, Guy Kelman, Noga Reshef, Hugo Mananet, Jake Holdcraft, Jochen D Muehlschlegel, Gina M Peloso, Olya Oppenheim, Charles Cheng, Jean-Michael Mazzella, Gregor Andelfinger, Seema Mital, Per Eriksson, Clarisse Billon, Mahyar Heydarpour, Harry C Dietz, Xavier Jeunemaitre, Eran Leitersdorf, David Sprinzak, Stephen C Blacklow, Simon C Body, Shai Carmi, Bart Loeys, José Luis de la Pompa, Dan Gilon, Emmanuel Messas, Ronen Dur |
| 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 |
| Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3. Gene 2023 7 882 147660. Mohamed Taha, Nourhan Awny, Somaia Ismail, Engy A Ashaat, Mahmoud A Senou |
| ACE2 gene polymorphisms are associated with elevated pulmonary artery pressure in congenital heart diseases. Gene 2023 7 882 147642. Yang Zi-Yang, Xie Nanshan, Luo Dongling, Huang Tao, Huang Yigao, Yu Danqing, Zhang Caoj |
| Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study. Scientific reports 2023 6 13 (1): 9424. Yiping Liu, Taowei Zhong, Xinli Song, Senmao Zhang, Mengting Sun, Jianhui Wei, Jing Shu, Tubao Yang, Tingting Wang, Jiabi Q |
| A gene-based association test of interactions for maternal-fetal genotypes identifies genes associated with nonsyndromic congenital heart defects. Genetic epidemiology 2023 6 . Manyan Huang, Chen Lyu, Nianjun Liu, Wendy N Nembhard, John S Witte, Charlotte A Hobbs, Ming Li, |
| Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India. BMC pediatrics 2023 6 23 (1): 290. Prachi Kukshal, Radha O Joshi, Ajay Kumar, Shadab Ahamad, Prabhatha Rashmi Murthy, Yogesh Sathe, Krishna Manohar, Soma Guhathakurta, Subramanian Chellapp |
| Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing. Open life sciences 2023 5 18 (1): 20220593. Junyue Xing, Hongdan Wang, Yuanyuan Xie, Taibing Fan, Cunying Cui, Yanan Li, Shuai Wang, Weiyue Gu, Chengzeng Wang, Hao Tang, Lin L |
| Association of maternal methionine synthase reductase gene polymorphisms with the risk of congenital heart disease in offspring: a hospital-based case-control study. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2023 5 36 (1): 2211201. Jianhui Wei, Tingting Wang, Xinli Song, Yiping Liu, Jing Shu, Mengting Sun, Jingyi Diao, Jingqi Li, Yihuan Li, Letao Chen, Senmao Zhang, Peng Huang, Jiabi Q |
| Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development. Genes 2023 4 14 (4): . Angelo B Arrigo, Wenjuan Zhu, Kylia A Williams, Carla Guzman-Moreno, Cecilia Lo, Jiuann-Huey I L |
| Genetic Screening of Targeted Region on the Chromosome 22q11.2 in Patients with Microtia and Congenital Heart Defect. Genes 2023 4 14 (4): . Caiyun Zhu, Yang Yang, Bo Pan, Hui Wei, Jiahang Ju, Nuo Si, Qi |
| [Analysis of MYRF gene variant in a fetus with Cardiac-urogenital syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 4 40 (5): 563-567. Hairui Sun, Hongjia Zhang, Yihua |
| 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 |
| The TGF? system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations. Clinical endocrinology 2023 3 . Ridder Lukas Ochsner, Stochholm Kirstine, Mortensen Kristian Havmand, Andersen Niels Holmark, Gravholt Claus Højbje |
| Polymorphisms in gene UGT1A1 modify the association of prenatal exposure to polycyclic aromatic hydrocarbons with congenital heart diseases risk. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2023 3 36 (1): 2183743. Tao Jing, Li Nana, Liu Zhen, Deng Ying, Li Xiaohong, Luo Fangfang, Li Xiaoyan, Yu Ping, Zhu J |
| EGFR and MMP-9 are associated with neointimal hyperplasia in systemic-to-pulmonary shunts in children with complex cyanotic heart disease. Mammalian genome : official journal of the International Mammalian Genome Society 2023 3 . Kottmann Philip, Eildermann Katja, Murthi Sarala Raj, Cleuziou Julie, Lemmer Julia, Vitanova Keti, von Stumm Maria, Lehmann Luisa, Hörer Jürgen, Ewert Peter, Sigler Matthias, Lange Rüdiger, Lahm Harald, Dreßen Martina, Lichtner Peter, Wolf Cordula |
| Detection of Novel Pathogenic Variants in Two Families with Recurrent Fetal Congenital Heart Defects. Pharmacogenomics and personalized medicine 2023 3 16 173-181. Cai Rongqin, Tan Ya, Wang Mingming, Yu Huijun, Wang Jing, Ren Zhuo, Dong Zhe, He Yiwen, Li Zhi, Lin Li, Gu Yi |
| A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. Frontiers in endocrinology 2023 3 14 1113234. Liu ShuPing, Zeng Ting, Luo Cheng, Peng DanXia, Xu Xuan, Liu Qin, Wu Qiong, Lu Qin, Huang FuRo |
| 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 |
| Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients. Frontiers in genetics 2023 2 14 1075349. Hu Huan, Geng Zilong, Zhang Shasha, Xu Yuejuan, Wang Qingjie, Chen Sun, Zhang Bing, Sun Kun, Lu Yan |
| Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses. Journal of the American Heart Association 2023 2 12 (4): e028226. Chui Martin M C, Mak Christopher C Y, Yu Mullin H C, Wong Sandra Y Y, Lun Kin-Shing, Yung Tak-Cheung, Kwong Anna K Y, Chow Pak-Cheong, Chung Brian H |
| The effect of maternal BMI, smoking and alcohol on congenital heart diseases: a Mendelian randomisation study. BMC medicine 2023 2 21 (1): 35. Taylor Kurt, Wootton Robyn E, Yang Qian, Oddie Sam, Wright John, Yang Tiffany C, Magnus Maria, Andreassen Ole A, Borges Maria Carolina, Caputo Massimo, Lawlor Deborah |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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