Human Genome Epidemiology Literature Finder
Heart, Lung, Blood and Sleep Disorders
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Records 1 - 30 (of 204 Records) |
| Query Trace: Congenital Heart Defects[original query] |
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| Secundum Type Atrial Septal Defect in Patients with Trisomy 21-Therapeutic Strategies, Outcome, and Survival: A Nationwide Study of the German National Registry for Congenital Heart Defects. Journal of clinical medicine 2021 9 10 (17): . Lammers Astrid E, Stegger Julia, Koerten Marc-André, Helm Paul C, Bauer Ulrike M, Baumgartner Helmut, Uebing Anselm |
| The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis. The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology 2021 Aug 73 (1): 72. Ashiq Sana, Ashiq Kanwal, Sabar Muhammad Faro |
| Association of maternal dietary habits and ADIPOQ gene polymorphisms with the risk of congenital heart defects in offspring: a hospital-based case-control study. European journal of clinical nutrition 2021 Jul . Zhang Senmao, Liu Xiaoying, Yang Tubao, Wang Tingting, Chen Lizhang, Qin Jia |
| A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1. Frontiers in cell and developmental biology 2021 7 9 668474. Yang Wenke, Li Yi, Bai Jun, You Tao, Yi Kang, Xie Dingxiong, Zhang Xiaowei, Xie Xiaodo |
| Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology. PloS one 2021 5 16 (5): e0251160. Imany-Shakibai Helia, Yin Ophelia, Russell Matthew R, Sklansky Mark, Satou Gary, Afshar Yal |
| Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. Clinical genetics 2021 May . Guida Valentina, Sparascio Francesca Piceci, Bernardini Laura, Pancheri Francesco, Melis Daniela, Cocciadiferro Dario, Pagnoni Mario, Puzzo Marianna, Goldoni Marina, Barone Chiara, Hozhabri Hossein, Putotto Carolina, Giuffrida Maria Grazia, Briuglia Silvana, Palumbo Orazio, Bianca Sebastiano, Stanzial Franco, Benedicenti Francesco, Kariminejad Ariana, Forzano Francesca, Baghernajad Salehi Leila, Mattina Teresa, Brancati Francesco, Castori Marco, Carella Massimo, Fadda Maria Teresa, Iannetti Giorgio, Dallapiccola Bruno, Digilio Maria Cristina, Marino Bruno, Tartaglia Marco, De Luca Alessand |
| MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2021 Mar . Stefekova Andrea, Capkova Pavlina, Capkova Zuzana, Curtisova Vaclava, Srovnal Josef, Mracka Enkhjargalan, Klaskova Eva, Prochazka Mart |
| Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects. Genes 2021 4 12 (5): . Musfee Fadi I, Agopian A J, Goldmuntz Elizabeth, Hakonarson Hakon, Morrow Bernice E, Taylor Deanne M, Tristani-Firouzi Martin, Watkins W Scott, Yandell Mark, Mitchell Laura |
| Prenatal Genetic Diagnosis in Three Fetuses With Left Heart Hypoplasia (LHH) From Three Unrelated Families. Frontiers in cardiovascular medicine 2021 4 8 631374. Luo Sukun, Chen Luyi, Wei Weizhong, Tan Li, Zhang Meng, Duan Zhengrong, Cao Jiangxia, Zhou Yan, Zhou Aifen, He Xueli |
| 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 |
| Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Human genetics 2021 2 140 (11): 1535-1545. Niskanen Julia E, Reunanen Vilma, Salonen Milla, Bannasch Danika, Lappalainen Anu K, Lohi Hannes, Hytönen Marjo |
| Concomitant genetic defects potentiate the adverse impact of prenatal alcohol exposure on cardiac outflow tract maturation. Birth defects research 2021 12 114 (3-4): 105-115. Harvey Drayton C, De Zoysa Prashan, Toubat Omar, Choi Jongkyu, Kishore Jahnavi, Tsukamoto Hidekazu, Kumar S R |
| De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children. Human genomics 2022 9 16 (1): 41. Qin Xi-Ji, Xu Meng-Meng, Ye Jia-Jun, Niu Yi-Wei, Wu Yu-Rong, Xu Rang, Li Fen, Fu Qi-Hua, Chen Sun, Sun Kun, Xu Yue-Ju |
| A Common Polymorphism in the MTHFD1 Gene Is a Modulator of Risk of Congenital Heart Disease. Journal of cardiovascular development and disease 2022 May 9 (6): . Karas Kuželi?ki Nataša, Šmid Alenka, Vidmar Golja Maša, Kek Tina, Geršak Borut, Mazi? Uroš, Mlinari?-Raš?an Irena, Geršak Kseni |
| "Association of MTHFR and MS/MTR gene polymorphisms with congenital heart defects in North Indian population (Jammu and Kashmir): a case-control study encompassing meta-analysis and trial sequential analysis". BMC pediatrics 2022 4 22 (1): 223. Raina Jyotdeep Kour, Panjaliya Rakesh Kumar, Dogra Vikas, Sharma Sushil, Anupriya , Kumar Parvind |
| Rare and Common Variants Uncover the Role of the Atria in Coarctation of the Aorta. Genes 2022 4 13 (4): . Zhu Wenjuan, Williams Kylia, Young Cullen, Lin Jiaunn-Huey, Teekakirikul Polakit, Lo Cecilia |
A genome-wide association study of obstructive heart defects among participants in the National Birth Defects Prevention Study.
American journal of medical genetics. Part A 2022 4 188 (8): 2303-2314. Rashkin Sara R, Cleves Mario, Shaw Gary M, Nembhard Wendy N, Nestoridi Eirini, Jenkins Mary M, Romitti Paul A, Lou Xiang-Yang, Browne Marilyn L, Mitchell Laura E, Olshan Andrew F, Lomangino Kevin, Bhattacharyya Sudeepa, Witte John S, Hobbs Charlotte A, |
| The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort. BMC medicine 2022 4 20 (1): 123. Robinson Jessica, Uzun Orhan, Loh Ne Ron, Harris Isabelle Rose, Woolley Thomas E, Harwood Adrian J, Gardner Jennifer Frances, Syed Yasir Ahm |
| Maternal Risk Factors Triggering Congenital Heart Defects in Down Syndrome: A Case-Control Study. Pediatric reports 2022 3 14 (1): 99-105. Asim Ambreen, Agarwal Sarita, Dean Deepika Del |
| Diastolic Blood Pressure Alleles Improve Congenital Heart Defect Repair Outcomes. Circulation research 2022 2 130 (7): 1030-1037. Breeyear Joseph H, Keaton Jacob M, Torstenson Eric S, Smith Andrew H, Klarin Derek, Damrauer Scott M, Natarajan Pradeep, Van Driest Sara L, Weiner Jeffrey G, Kannankeril Prince J, Edwards Todd |
| 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 |
| 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 |
| 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 |
| Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study. Orphanet journal of rare diseases 2022 1 17 (1): 2. Lu Fengying, Xue Peng, Zhang Bin, Wang Jing, Yu Bin, Liu Jianb |
| Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring. Biomedical and environmental sciences : BES 2022 Jan 35 (1): 45-57. Qin Jia Bi, Luo Liu, Sun Meng Ting, Huang Peng, Wang Ting Ting, Zhang Sen Mao, Li Jin Qi, Li Yi Huan, Chen Le Tao, Diao Jing Yi, Zhu Pi |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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