Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 51 Records) |
Query Trace: Patent Ductus Arteriosus[original query] |
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Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes. BioMed research international 2015 2015 127807. Khodyuchenko Tatiana, Zlotina Anna, Pervunina Tatiana, Zverev Dmitry, Malashicheva Anna, Kostareva An |
Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants. Pediatrics international : official journal of the Japan Pediatric Society 2015 Nov . Kawase Koya, Sugiura Tokio, Nagaya Yoshiaki, Yamada Takaharu, Sugimoto Mari, Ito Koichi, Togawa Takao, Nagasaki Rika, Kato Takenori, Kouwaki Masanori, Koyama Norihisa, Saitoh Shin |
Genetic Modifiers of Patent Ductus Arteriosus in Term Infants. The Journal of pediatrics 2016 Jun . Patel Priti M, Momany Allison M, Schaa Kendra L, Romitti Paul A, Druschel Charlotte, Cooper Margaret E, Marazita Mary L, Murray Jeffrey C, Dagle John |
Association of miR-196a2, miR-27a, and miR-499 polymorphisms with isolated congenital heart disease in a Chinese population. Genetics and molecular research : GMR 2016 Oct 15 (4): . Yu K, Ji Y, Wang H, Xuan Q K, Li B B, Xiao J J, Sun W, Kong X |
Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus. Pediatric research 2017 Jun . Smith Caitlin J, Ryckman Kelli K, Bahr Timothy M, Dagle John |
Is the C242T Polymorphism of the CYBA Gene Linked with Oxidative Stress-Associated Complications of Prematurity? Antioxidants & redox signaling 2017 Apr . Huizing Maurice J, Cavallaro Giacomo, Moonen Rob M, Gonzalez-Luis Gema E, Mosca Fabio, Vento Maximo, Villamor Eduar |
Genetic variants associated with patent ductus arteriosus in extremely preterm infants. Journal of perinatology : official journal of the California Perinatal Association 2019 Mar 39 (3): 401-408. Dagle John M, Ryckman Kelli K, Spracklen Cassandra N, Momany Allison M, Cotten C Michael, Levy Joshua, Page Grier P, Bell Edward F, Carlo Waldemar A, Shankaran Seetha, Goldberg Ronald N, Ehrenkranz Richard A, Tyson Jon E, Stoll Barbara J, Murray Jeffrey C, |
Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns? Developmental neuroscience 2018 40 (4): 337-343. Prasun Pankaj, Madan Raghav, Puthuraya Subhash, Subramanian Divya, Datta Ishita, Kalra Vaneet, Thomas Ronald, Stockton David W, Sundaram Senthil, Callaghan Joseph, Callaghan Michael, Chouthai Nit |
Association between 5,10-methylenetetrahydrofolate, gene polymorphism and congenital heart disease. Journal of biological regulators and homeostatic agents 0 32 (5): 1255-1260. Wang H L, Sun L, Zhou S, Wang |
Vascular endothelial growth factor polymorphism rs2010963 status does not affect patent ductus arteriosus incidence or cyclooxygenase inhibitor treatment success in preterm infants. Cardiology in the young 2019 Jun 1-5. Sallmon Hannes, Aydin Tünay, Hort Stefanie, Kubinski Anja, Bode Christina, Klippstein Tamara, Endesfelder Stefanie, Bührer Christoph, Koehne Pet |
[Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 5 36 (6): 620-623. Shen Nan, Gou Rui, Yu Han, Gao Xin, Pang Huanping, Liu Yi, Gai Zhongt |
Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children. Molecular genetics & genomic medicine 2019 Mar e612. Behiry Eman G, Al-Azzouny Mahmoud A, Sabry Dina, Behairy Ola G, Salem Nessrine |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American journal of medical genetics. Part A 2019 12 182 (2): 357-364. Lee Chung-Lin, Tan Louis Tan Hock-Cheong, Lin Hsiang-Yu, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu, Chuang Chih-Kuang, Wu Mei-Hwan, Wang Jou-Kou, Chu Shao-Yin, Lin Ju-Li, Lo Fu-Sung, Su Pen-Hua, Hsu Chia-Chi, Ko Yu-Yuan, Chen Ming-Ren, Chiu Hui-Ching, Lin Shuan-P |
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. American journal of medical genetics. Part C, Seminars in medical genetics 2019 12 181 (4): 658-681. Grange Dorothy K, Roessler Helen I, McClenaghan Conor, Duran Karen, Shields Kathleen, Remedi Maria S, Knoers Nine V A M, Lee Jin-Moo, Kirk Edwin P, Scurr Ingrid, Smithson Sarah F, Singh Gautam K, van Haelst Mieke M, Nichols Colin G, van Haaften Gi |
Therapy for Apnoea of Prematurity: A Retrospective Study on Effects of Standard Dose and Genetic Variability on Clinical Response to Caffeine Citrate in Chinese Preterm Infants. Advances in therapy 2020 Nov . He Xin, Qiu Jin-Chun, Lu Ke-Yu, Guo Hong-Li, Li Ling, Jia Wei-Wei, Ni Ming-Ming, Liu Yun, Xu Jing, Chen Feng, Cheng R |
Evaluation of urinary acetaminophen metabolites and its association with the genetic polymorphisms of the metabolising enzymes, and serum acetaminophen concentrations in preterm neonates with patent ductus arteriosus. Xenobiotica; the fate of foreign compounds in biological systems 2021 Sep 1-32. Sridharan Kannan, Al Jufairi Muna, Al Ansari Eman, Jasim Anfal, Eltayeb Diab Diab, Al Marzooq Reem, Al Madhoob Abdulrao |
Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring. BMC cardiovascular disorders 2021 Jun 21 (1): 298. Sun Mengting, Wang Tingting, Huang Peng, Diao Jingyi, Zhang Senmao, Li Jinqi, Luo Liu, Li Yihuan, Chen Letao, Liu Yiping, Wei Jianhui, Song Xinli, Sheng Xiaoqi, Qin Jia |
Interactions between PDA-associated polymorphisms and genetic ancestry alter ductus arteriosus gene expression. Pediatric research 2021 4 91 (4): 903-911. Clyman Ronald I, Hills Nancy K, Dagle John M, Murray Jeffrey C, Kelsey Keeg |
The effects of ductal size on the severity of pulmonary hypertension in children with patent ductus arteriosus (PDA): a multi-center study. BMC pulmonary medicine 2021 3 21 (1): 79. Chinawa Josephat M, Chukwu Bartholomew F, Chinawa Awoere T, Duru Chika |
Association of Maternal Betaine-Homocysteine Methyltransferase (BHMT) and BHMT2 Genes Polymorphisms with Congenital Heart Disease in Offspring. Reproductive sciences (Thousand Oaks, Calif.) 2022 Jul . Luo Manjun, Wang Tingting, Huang Peng, Zhang Senmao, Song Xinli, Sun Mengting, Liu Yiping, Wei Jianhui, Shu Jing, Zhong Taowei, Chen Qian, Zhu Ping, Qin Jia |
A novel KLF13 mutation underlying congenital patent ductus arteriosus and ventricular septal defect, as well as bicuspid aortic valve. Experimental and therapeutic medicine 2022 4 23 (4): 311. Abhinav Pradhan, Zhang Gao-Feng, Zhao Cui-Mei, Xu Ying-Jia, Wang Juan, Yang Yi-Qi |
Randomized Trial on Echocardiography-Guided Ductus Arteriosus Treatment to Reduce Necrotizing Enterocolitis. Frontiers in pediatrics 2022 2 9 807712. Bravo María Carmen, Sánchez-Salmador Rebeca, Moral-Pumarega María Teresa, López-Azorín Manuela, Mosqueda-Peña Rocío, Dorronsoro Izaskun, Cabañas Fernando, Pellicer Adeli |
Two genetic variants in NEXN and ABCC6 genes found in a patient with right coronary artery to right ventricle fistula combined with giant coronary aneurysm and patent ductus arteriosus. Frontiers in cardiovascular medicine 2022 12 9 1048795. Peng Yongxuan, Ye Jiajun, Xu Yuejuan, Huang Jihong, Wu Yurong, Liu Wei, Bai Kai, Chen Sun, Lu Yan |
Etiology and prognosis of nephrocalcinosis according to gestational age in Korean children. BMC pediatrics 2023 9 23 (1): 451. Jinwoon Joung, Heeyeon C |
Association of the EPAS1 rs7557402 Polymorphism with Hemodynamically Significant Patent Ductus Arteriosus Closure Failure in Premature Newborns under Pharmacological Treatment with Ibuprofen. Diagnostics (Basel, Switzerland) 2023 8 13 (15): . Diana G Rogel-Ayala, José Esteban Muñoz-Medina, Valeria Dejanira Vicente-Juárez, Patricia Grether-González, Deneb Algedi Morales-Barquet, Alfonso de Jesús Martínez-García, María Olga Leticia Echaniz-Aviles, Rosalba Sevilla-Montoya, Alejandro Martínez-Juárez, Jazmin Artega-Vázquez, Javier Angeles-Martínez, Gilberto Vargas-Alarcón, Alberto Hidalgo-Bravo, Irma Eloisa Monroy-Muñ |
Early neurodevelopmental outcomes of extreme preterm infants exposed to paracetamol: a retrospective cohort study. Pediatric research 2023 5 1-6. Bella Zhong, Kenneth Tan, Abdul Razak, Vathana Sackett, Catherine Machipisa, Lindsay Zhou, Samira Samiee-Zafarghandy, Arvind Sehgal, Rod W Hunt, Pramod Pharande, Atul Malhot |
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Frontiers in genetics 2023 4 14 1085210. Lin Yunting, Chen Xiaohong, Xie Bobo, Guan Zhihong, Chen Xiaodan, Li Xiuzhen, Yi Peng, Du Rong, Mei Huifen, Liu Li, Zhang Wen, Zeng Chunh |
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 |
Whole-exome sequencing analysis of patent ductus arteriosus in a Japanese macaque (Macaca fuscata). Journal of medical primatology 2023 11 . Young-Jin Jang, Byung-Yong Park, Hyun-Jin Tae, Jeoungha Sim, Dongchoon A |
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 |
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