Human Genome Epidemiology Literature Finder
Heart, Lung, Blood and Sleep Disorders
Records 1 - 30 (of 214 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 |
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 |
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA. Genes 2022 Jul 13 (7): . Meerschaut Ilse, Steyaert Wouter, Bové Thierry, François Katrien, Martens Thomas, De Groote Katya, De Wilde Hans, Muiño Mosquera Laura, Panzer Joseph, Vandekerckhove Kristof, Moons Lara, Vermassen Petra, Symoens Sofie, Coucke Paul J, De Wolf Daniël, Callewaert Be |
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 |
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, |
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 |
Investigation of the genetic and clinical features of laterality disorders in prenatal diagnosis: discovery of a novel compound heterozygous mutation in the DNAH11 gene. Archives of gynecology and obstetrics 2024 6 . Simin Zhang, Jingjing Wang, Lijuan Sun, Jijing Han, Xiaowei Xiong, Dan Xiao, Qingqing |
SIGIRR gene variants in term newborns with congenital heart defects and necrotizing enterocolitis. Annals of pediatric cardiology 2024 5 16 (5): 337-344. Ekaterina Konstantinovna Zaikova, Aleksandra Vladimirovna Kaplina, Natalia Aleksandrovna Petrova, Tatiana Mikhailovna Pervunina, Anna Aleksandrovna Kostareva, Olga Viktorovna Kalini |
Genome Sequencing is Critical for Forecasting Outcomes following Congenital Cardiac Surgery. medRxiv : the preprint server for health sciences 2024 5 . W Scott Watkins, E Javier Hernandez, Thomas A Miller, Nathan R Blue, Raquel Zimmerman, Eric R Griffiths, Erwin Frise, Daniel Bernstein, Marko T Boskovski, Martina Brueckner, Wendy K Chung, J William Gaynor, Bruce D Gelb, Elizabeth Goldmuntz, Peter J Gruber, Jane W Newburger, Amy E Roberts, Sarah U Morton, John E Mayer, Christine E Seidman, Jonathan G Seidman, Yufeng Shen, Michael Wagner, H Joseph Yost, Mark Yandell, Martin Tristani-Firou |
Role of Vascular Endothelial Growth Factor as a Potential Biomarker in Congenital Heart Defects: A Systematic Review. The journal of Tehran Heart Center 2024 4 18 (4): 237-243. Sana Ashiq, Syed Najam Hyder, Kanwal Ashiq, Muhammad Farooq Sab |
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 |
Congenital septal defects in Karachi, Pakistan: an update of mutational screening by high-resolution melting (HRM) analysis of MTHFR C677T. Human genomics 2024 1 18 (1): 6. Syed Irtiza Ali, Obaid Yusuf Khan, Nadir Naveed, Hussain Ahmad, Najma Patel, Afsheen Ar |
Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population. Frontiers in genetics 2024 1 14 1267368. Zilong Geng, Wenjuan Li, Ping Yang, Shasha Zhang, Shuo Wu, Junhao Xiong, Kun Sun, Dan Zhu, Sun Chen, Bing Zha |
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 17, 2024
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