Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 785 Records) |
Query Trace: Congenital heart[original query] |
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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 |
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 |
Evaluation of maternal-fetal outcomes in pregnancy complicated with severe pulmonary hypertension and its influencing factors: a single-center retrospective study in China. 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 12 36 (2): 2290923. Qiulan Dai, Manman Shang, Yu Zhou, Qin W |
The risk of pediatric cardiovascular diseases in offspring born to mothers with systemic lupus erythematosus: a nationwide study. Frontiers in pediatrics 2023 12 11 1294823. Jong Ho Cha, Jae Kyoon Hwang, Young-Jin Choi, Jae Yoon |
Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a cohort of Turner Syndrome patients with 45,X blood karyotype. Cytogenetic and genome research 2023 12 . Emediong Q Udo, Tate Truly, Andrew Peters, Siddharth K Prakash, Michelle Rivera, David Felipe Rodriguez-Buriti |
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 |
Association of genetic and sulcal traits with executive function in congenital heart disease. Annals of clinical and translational neurology 2023 11 . Lara Maleyeff, Jane W Newburger, David Wypij, Nina H Thomas, Evdokia Anagnoustou, Martina Brueckner, Wendy K Chung, John Cleveland, Sean Cunningham, Bruce D Gelb, Elizabeth Goldmuntz, Donald J Hagler, Hao Huang, Eileen King, Patrick McQuillen, Thomas A Miller, Ami Norris-Brilliant, George A Porter, Amy E Roberts, P Ellen Grant, Kiho Im, Sarah U Mort |
Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly. HGG advances 2023 11 100258. Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S Johar, Iftikhar J Kullo, Keyue Di |
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot. Translational pediatrics 2023 11 12 (10): 1835-1841. Yu Pan, Manli Liu, Songsong Zhang, Huaxian Mei, Jing |
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve. medRxiv : the preprint server for health sciences 2023 11 . Steven G Carlisle, Hasan Albasha, Hector Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer, Laura Muiño Mosquera, Anji T Yetman, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Dong-Chuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, , , Dianna M Milewicz, Simon C Body, Siddharth K Praka |
Association between NOS3 gene polymorphisms and genetic susceptibility to congenital heart Disease: A systematic review and meta-analysis. Cytokine 2023 11 173 156415. Kang Yi, Wei Wang, Xin Zhang, Xin Dong, Zhengye Fan, Yuhu Ma, Jie Gao, Xinyao Li, Tao Y |
Single-Cell Reconstruction and Mutation Enrichment Analysis Identifies Dysregulated Cardiomyocyte and Endothelial Cells in Congenital Heart Disease. Physiological genomics 2023 10 . Richa Tambi, Binte Ashraf, Sharon Nandkishore, Shermin Sharafat, Faiza Kader, Nasna Nassir, Nesrin Mohamed, Awab Ahmed, Reem Abdel Hameid, Samah Alasrawi, Martina Brueckner, Wolfgang M Kuebler, Wendy Chung, Alawi Alsheikh-Ali, Roberto M Di Donato, Mohammed Uddin, Bakhrom K Berdi |
Relationships between Maternal Folic Acid Supplementation and GATA4 Gene Polymorphisms in Patients with Non-Chromosomal Congenital Heart Disease: A Hospital-Based Case-Control Study in China. Nutrients 2023 10 15 (20): . Letao Chen, Tubao Yang, Tingting Wang, Mengting Sun, Jiabi Q |
Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease. Biology 2023 10 12 (10): . Nephi A Walton, Hoang H Nguyen, Sara S Procknow, Darren Johnson, Alexander Anzelmi, Patrick Y J |
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 |
Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China. Italian journal of pediatrics 2024 4 50 (1): 62. Ye Jin, Miao Zhao, Qiuzhe Guo, Wanyu Zhao, Min Lei, Yifei Zhang, Yunhan Zhang, Yan Shen, Keqin Lin, Zhaoqing Yang, Jiayou Chu, Hao Sun, Zhiling L |
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024 4 33 (2): 50-58. Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kaw |
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome medicine 2024 4 16 (1): 53. Zain Dardas, Jawid M Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M Grochowski, Edward G Jones, Shalini N Jhangiani, Xander H T Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E Posey, Donna M Muzny, Richard A Gibbs, James R Lupski, Zeynep Coban-Akdemir, Shaine A Morr |
Atrial Fibrillation and Clonal Hematopoiesis in TET2 and ASXL1. JAMA cardiology 2024 4 . Seyedmohammad Saadatagah, Mohammadreza Naderian, Mesbah Uddin, Ozan Dikilitas, Abhishek Niroula, Art Schuermans, Elizabeth Selvin, Ron C Hoogeveen, Kunihiro Matsushita, Vijay Nambi, Bing Yu, Lin Yee Chen, Alexander G Bick, Benjamin L Ebert, Michael C Honigberg, Na Li, Amil Shah, Pradeep Natarajan, Iftikhar J Kullo, Christie M Ballanty |
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 |
Somatic GATA4 mutation contributes to tetralogy of Fallot. Experimental and therapeutic medicine 2024 1 27 (2): 91. Pradhan Abhinav, Yan-Jie Li, Ri-Tai Huang, Xing-Yuan Liu, Jia-Ning Gu, Chen-Xi Yang, Ying-Jia Xu, Juan Wang, Yi-Qing Ya |
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:Apr 29, 2024
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