Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 812 Records) |
| Query Trace: Congenital heart[original query] |
|---|
| Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve. PloS one 2024 9 19 (9): e0304514. Steven G Carlisle, Hasan Albasha, Hector I 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, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Dianna M Milewicz, Simon C Body, Siddharth K Prakash, , |
| Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients. Human genetics 2024 9 . Daniel A Baird, Hira Mubeen, Canan Doganli, Jasmijn B Miltenburg, Oskar Kaaber Thomsen, Zafar Ali, Tahir Naveed, Asif Ur Rehman, Shahid Mahmood Baig, Søren Tvorup Christensen, Muhammad Farooq, Lars Allan Lars |
| Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications. American journal of human genetics 2024 9 . Sara Mansoorshahi, Anji T Yetman, Malenka M Bissell, Yuli Y Kim, Hector I Michelena, Julie De Backer, Laura Muiño Mosquera, Dawn S Hui, Anthony Caffarelli, Maria G Andreassi, Ilenia Foffa, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Shaine A Morris, Simon C Body, Jessica X Chong, Michael J Bamshad, , , , Dianna M Milewicz, Siddharth K Praka |
| Missense mutations in the CITED2 gene may contribute to congenital heart disease. BMC cardiovascular disorders 2024 9 24 (1): 516. Hira Yaqoob, Hussain Ahmad, Syed Irtiza Ali, Najma Patel, Afsheen Ar |
| Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms and five related serum molecular levels in 2587 patients: Associated differentially with adverse pregnancy. Molecular biology reports 2024 9 51 (1): 1014. Zhanqi Feng, Yue Gao, Mengting Zhang, Yaoping Wang, Xiuming Liu, Bo Zhang, Junxiang Su, Hongdan Wa |
| FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population. BMC medical genomics 2024 8 17 (1): 197. Yunhan Zhang, Xiaoli Dong, Jun Zhang, Miao Zhao, Jiang Wang, Jiayou Chu, Zhaoqing Yang, Shaohui Ma, Keqin Lin, Hao Sun, Zhiling L |
| [Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 8 41 (8): 903-908. Xiayuan Xu, Fenglei Ye, Jun Zhang, Keqin Jin, Qian Shen, Shuangshuang Shen, Fan J |
| Predictive Modeling of Endocardial Fibroelastosis Recurrence in Patients with Congenital Heart Disease. The Journal of thoracic and cardiovascular surgery 2024 8 . Daniel Diaz-Gil, Natalia Silva-Gomez, Sarah U Morton, Jonathan G Seidman, Christine E Seidman, David Zurakowski, Steven J Staffa, Gerald R Marx, Sitaram M Emani, Pedro J Del Nido, Ingeborg Frie |
| Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up. Translational pediatrics 2024 8 13 (7): 1161-1168. Ziqin Liu, Jianming Lai, Fuying So |
| ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease. Genome medicine 2024 8 16 (1): 97. Xiaoxi Luo, Lifeng Liu, Haowei Rong, Xiangyang Liu, Ling Yang, Nan Li, Hongjun S |
| Exploring Genetic Diversity of SOD2 and POU5F1 for Congenital Heart Disease in the Southwest Chinese Population. International heart journal 2024 7 65 (4): 723-729. Ye Jin, Jun Zhang, Qiuzhe Guo, Xiaoli Dong, Jian Li, Jiang Wang, Shuang Li, Yan Shen, Keqin Lin, Zhaoqing Yang, Jiayou Chu, Hao Sun, Zhiling L |
| Congenital Heart Disease and Genetic Changes in Folate/Methionine Cycles. Genes 2024 7 15 (7): . Nataša Karas Kuželi?ki, Bojan Dolj |
| 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 |
| Coronary arteriopathy in a patient with Noonan phenotype: Case report. Annals of pediatric cardiology 2024 6 17 (1): 70-73. Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurk |
| Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly. Frontiers in medicine 2024 5 11 1349171. Fagui Yue, Xiao Yang, Ning Liu, Ruizhi Liu, Hongguo Zha |
| Impact of Genotype-Phenotype Interactions on Cardiovascular Function in Paediatric Loeys-Dietz Syndrome. CJC pediatric and congenital heart disease 2024 5 3 (2): 47-54. Nairy Khodabakhshian, Alison J Howell, Pablo Perez Lopez, Wei Hui, Luc L Mertens, Vitor C Guer |
| 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 |
| 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 |
| 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 |
| 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity. Genes 2024 4 15 (4): . Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Viei |
| 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 |
| 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 |
| SMAD5 as a novel gene for familial pulmonary arterial hypertension. Clinical science (London, England : 1979) 2024 12 . Ding Cao, Ekkehard Grünig, Yuriy Sirenko, Ganna Radchenko, Henning Gall, Ayat Ahmed, Susanne Theiß, Mareike Lankeit, Benjamin Meder, Magdalena Laugsch, Christina A Eichstae |
| Association of maternal folic acid supplementation and offspring MTRR gene polymorphism with congenital heart disease: a hospital-based case-control study in Han population. Journal of health, population, and nutrition 2024 12 43 (1): 220. Liuxuan Li, Jun Ou, Yige Chen, Qian Chen, Manjun Luo, Tingting Wang, Yingfan Zhang, Jiabi Q |
| Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. Heart (British Cardiac Society) 2024 12 . Helene DiGregorio, Sara Mansoorshahi, Steven G Carlisle, Catherina Tovar Pensa, Abi Watts, Courtney McNeely, Anna Sabate-Rotes, Anji Yetman, Hector I Michelena, Julie F A De Backer, Laura Muiño Mosquera, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Simon C Body, Dianna M Milewicz, Siddharth K Prakash, |
| Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction. Journal of the American Heart Association 2024 11 13 (21): e035614. Keiichi Hirono, Yukiko Hata, Teruhiko Imamura, Kaori Tsuboi, Shinya Takarada, Mako Okabe, Hideyuki Nakaoka, Keijiro Ibuki, Sayaka Ozawa, Shojiro Ichimata, Naoki Nishida, Hidenori Iwasaki, Susumu Urata, Seigo Okada, Tomoya Hiratsuji, Heima Sakaguchi, Kiyohiro Takigiku, Makoto Nakazawa, Eiki Nishihara, Masako Harada, Osamu Matsuo, Kenji Yasuda, Yoko Yoshida, Hidemasa Namiki, Kazushi Yasuda, Toshinobu Ifuku, Kotaro Urayama, Hideharu Oka, Kayo Ogino, Akio Kato, Nobuhiko Kan, Shunji Seki, Mitsuru Seki, Yutaka Odanaka, Satoru Iwashima, Shuichiro Yoshida, Toyohisa Miyata, Tomoyuki Miyamoto, Ken Watanabe, Naoki Kuwabara, Ryo Inuzuka, Yoshihiro Takahashi, Hisanori Sakazaki, Jun Muneuchi, Shigetoyo Kogaki, Fujito Numano, Sachiko Kido, Masaki Nii, Shinsuke Hoshino, Hidekazu Ishida, Jun Maeda, Yasunobu Hayabuchi, Yoshikazu Otsubo, Kazuyuki Ikeda, Shinya Tsukano, Makoto Watanabe, Nobuo Momoi, Takanari Fujii, Tao Fujioka, Mitsuhiro Fujino, Hiroki Uchiyama, Shigehito Baba, Hitoshi Horigome, Takashi Honda, Kazutaka Suzuki, Fukiko Ichi |
| Detection of a heterozygous de novo pathogenic variant in the PTPN11 gene (c.1505 C > T, p.S502L) in a fetus associated with cystic hygroma and congenital heart defects. Taiwanese journal of obstetrics & gynecology 2024 10 63 (6): 955-957. Chih-Ping Ch |
| A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus. American journal of medical genetics. Part A 2024 10 e63906. Naoya Saijo, Hisao Yaoita, Jun Takayama, Chiharu Ota, Eiichiro Kawai, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuc |
- Page last reviewed:Feb 1, 2024
- Content source: