Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 753 Records) |
| Query Trace: Congenital heart[original query] |
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| Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects. The journal of gene medicine 2022 9 24 (12): e3450. Yin Xiu-Yun, Chen Huan-Xin, Chen Zhuo, Yang Qin, Han Jun, He Guo-W |
| Association of methylenetetrahydrofolate reductase gene polymorphisms and maternal folic acid use with the risk of congenital heart disease. Frontiers in pediatrics 2022 9 10 939119. Zhong Taowei, Song Xinli, Liu Yiping, Sun Mengting, Zhang Senmao, Chen Letao, Diao Jingyi, Li Jinqi, Li Yihuan, Shu Jing, Wei Jianhui, Zhu Ping, Wang Tingting, Qin Jia |
| Genetic abnormalities in fetal congenital heart disease with aberrant right subclavian artery. Scientific reports 2022 Sep 12 (1): 15899. Sun Hairui, Han Lu, Hao Xiaoyan, Chen Zhaoyi, Wang Jingyi, Yi Tong, Zhou Xiaoxue, Gu Xiaoyan, Han Jiancheng, Zhang Ye, Sun Lin, Liu Xiaowei, Zhang Siyao, Guo Yong, Zhang Hongjia, He Yih |
| Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry. International journal of molecular sciences 2022 Sep 23 (18): . Cruz-Utrilla Alejandro, Gallego-Zazo Natalia, Tenorio-Castaño Jair Antonio, Guillén Inmaculada, Torrent-Vernetta Alba, Moya-Bonora Amparo, Labrandero Carlos, Rodríguez-Monte María Elvira Garrido-Lestache, Rodríguez-Ogando Alejandro, Rey María Del Mar Rodríguez Vázquez Del, Espín Juana, Plata-Izquierdo Beatriz, Álvarez-Fuente María, Moreno-Galdó Antonio, Escribano-Subias Pilar, Marín María Jesús Del Cer |
| 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 |
| Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study. Medicine 2022 12 101 (47): e31689. Cai Meiying, Guo Nan, Lin Na, Huang Hailong, Xu Liang |
| Is perinatal asphyxia associated with an increase in serum bilirubin in neonates? A case-control study. Journal of family medicine and primary care 2022 11 11 (7): 3840-3843. Rai Seema, Sood Mangla, Kaur Amarpre |
| Copy number variant analysis for syndromic congenital heart disease in the Chinese population. Human genomics 2022 11 16 (1): 51. Li Ping, Chen Weicheng, Li Mengru, Zhao Zhengshan, Feng Zhiyu, Gao Han, Suo Meijiao, Xu Ziqing, Tian Guixiang, Wu Feizhen, Wei Sheng, Huang Guoyi |
| Investigation of Copy Number Variation in South African Patients With Congenital Heart Defects. Circulation. Genomic and precision medicine 2022 Oct 101161CIRCGEN121003510. Saacks Nicole A, Eales James, Spracklen Timothy F, Aldersley Thomas, Human Paul, Verryn Mark, Lawrenson John, Cupido Blanche, Comitis George, De Decker Rik, Fourie Barend, Swanson Lenise, Joachim Alexia, Brooks Andre, Ramesar Raj, Shaboodien Gasnat, Keavney Bernard D, Zühlke Liesl |
| Copy-number variation in congenital heart disease. Current opinion in genetics & development 2022 Oct 77 101986. Ehrlich Laurent, Prakash Siddharth |
| X-linked BCOR variants identified in Chinese Han patients with congenital heart disease. The journal of gene medicine 2022 10 25 (1): e3461. Suo Mei-Jiao, Chen Wei-Cheng, Xu Zi-Qing, Tian Gui-Xiang, Li Ting, Li Ping, Sheng Wei, Huang Guo-Ying, Ma Xiao-Ji |
| 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 |
| 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:May 22, 2023
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