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Last Posted: Nov 05, 2024

• The association of gene polymorphisms of adenosine and dopamine receptors with the response to caffeine citrate treatment in infants with apnea of prematurity: a prospective nested case-control study.
  Jiangbiao Xie, et al. Italian journal of pediatrics 2024 0 (1) 225
• Missense mutations in the CITED2 gene may contribute to congenital heart disease.
  Hira Yaqoob, et al. BMC cardiovascular disorders 2024 0 (1) 516
• High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
  Gloria K E Zodanu et al. Int J Mol Sci 2024 25(10)
• Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
  Chung-Lin Lee, et al. Diagnostics (Basel, Switzerland) 2024 0 (8)
• The risk of pediatric cardiovascular diseases in offspring born to mothers with systemic lupus erythematosus: a nationwide study.
  Jong Ho Cha, et al. Frontiers in pediatrics 2023 0 1294823
• Whole-exome sequencing analysis of patent ductus arteriosus in a Japanese macaque (Macaca fuscata).
  Young-Jin Jang, et al. Journal of medical primatology 2023 0
• Etiology and prognosis of nephrocalcinosis according to gestational age in Korean children.
  Jinwoon Joung, et al. BMC pediatrics 2023 0 (1) 451
• Association of the EPAS1 rs7557402 Polymorphism with Hemodynamically Significant Patent Ductus Arteriosus Closure Failure in Premature Newborns under Pharmacological Treatment with Ibuprofen.
  Diana G Rogel-Ayala, et al. Diagnostics (Basel, Switzerland) 2023 0 (15)
• Early neurodevelopmental outcomes of extreme preterm infants exposed to paracetamol: a retrospective cohort study.
  Bella Zhong, et al. Pediatric research 2023 0 1-6
• Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
  Lin Yunting, et al. Frontiers in genetics 2023 0 1085210
• Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
  Grange Dorothy K, et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 0 (4) 658-681
• Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
  Lee Chung-Lin, et al. American journal of medical genetics. Part A 2019 0 (2) 357-364
• [Genetic analysis of a child with 13q deletion syndrome featuring congenital heart disease].
  Shen Nan, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 0 (6) 620-623
• Interactions between PDA-associated polymorphisms and genetic ancestry alter ductus arteriosus gene expression.
  Clyman Ronald I, et al. Pediatric research 2021 0 (4) 903-911
• The effects of ductal size on the severity of pulmonary hypertension in children with patent ductus arteriosus (PDA): a multi-center study.
  Chinawa Josephat M, et al. BMC pulmonary medicine 2021 0 (1) 79
• 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.
  Peng Yongxuan, et al. Frontiers in cardiovascular medicine 2022 0 1048795
• A novel KLF13 mutation underlying congenital patent ductus arteriosus and ventricular septal defect, as well as bicuspid aortic valve.
  Abhinav Pradhan, et al. Experimental and therapeutic medicine 2022 0 (4) 311
• Genetic polymorphisms and risk for acute renal failure in preterm neonates.
  Vásárhelyi Barna, et al. Pediatric nephrology (Berlin, Germany) 2005 0 (2) 132-5
• Randomized Trial on Echocardiography-Guided Ductus Arteriosus Treatment to Reduce Necrotizing Enterocolitis.
  Bravo María Carmen, et al. Frontiers in pediatrics 2022 0 807712
• Bedside tracking of functional autonomic age in preterm infants.
  Iyer Kartik K et al. Pediatric research 2022
• Association of Maternal Betaine-Homocysteine Methyltransferase (BHMT) and BHMT2 Genes Polymorphisms with Congenital Heart Disease in Offspring.
  Luo Manjun, et al. Reproductive sciences (Thousand Oaks, Calif.) 2022 7
• 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.
  Sridharan Kannan, et al. Xenobiotica; the fate of foreign compounds in biological systems 2021 9 1-32
• Association analysis of maternal MTHFR gene polymorphisms and the occurrence of congenital heart disease in offspring.
  Sun Mengting, et al. BMC cardiovascular disorders 2021 6 (1) 298
• 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.
  He Xin, et al. Advances in therapy 2020 11
• Association between 5,10-methylenetetrahydrofolate, gene polymorphism and congenital heart disease.
  Wang H L, et al. Journal of biological regulators and homeostatic agents 0 0 (5) 1255-1260
• Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?
  Prasun Pankaj, et al. Developmental neuroscience 2018 0 (4) 337-343
• Genetic variants associated with patent ductus arteriosus in extremely preterm infants.
  Dagle John M, et al. Journal of perinatology : official journal of the California Perinatal Association 2019 3 (3) 401-408
• Vascular endothelial growth factor polymorphism rs2010963 status does not affect patent ductus arteriosus incidence or cyclooxygenase inhibitor treatment success in preterm infants.
  Sallmon Hannes, et al. Cardiology in the young 2019 6 1-5
• Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children.
  Behiry Eman G, et al. Molecular genetics & genomic medicine 2019 3 e612
• Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
  Regalado Ellen S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(10) 1206-1215
• Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.
  Thomford Nicholas Ekow et al. Omics : a journal of integrative biology 2018 May 22(5) 301-321
• Genetics of the patent ductus arteriosus (PDA) and pharmacogenetics of PDA treatment.
  Lewis Tamorah R et al. Seminars in fetal & neonatal medicine 2018 Feb
• Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
  LaHaye Stephanie et al. Circulation. Cardiovascular genetics 2016 Aug 9(4) 320-9
• Polymorphisms in CYP2C9 are associated with response to indomethacin among neonates with patent ductus arteriosus.
  Smith Caitlin J, et al. Pediatric research 2017 6
• Is the C242T Polymorphism of the CYBA Gene Linked with Oxidative Stress-Associated Complications of Prematurity?
  Huizing Maurice J, et al. Antioxidants & redox signaling 2017 4
• Association of miR-196a2, miR-27a, and miR-499 polymorphisms with isolated congenital heart disease in a Chinese population.
  Yu K, et al. Genetics and molecular research : GMR 2016 10 (4)
• Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.
  Patel Priti M, et al. The Journal of pediatrics 2016 6
• Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants.
  Kawase Koya, et al. Pediatrics international : official journal of the Japan Pediatric Society 2015 11
• 47 patients with FLNA associated periventricular nodular heterotopia.
  Lange Max, et al. Orphanet journal of rare diseases 2015 0 134
• Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.
  Khodyuchenko Tatiana, et al. BioMed research international 2015 0 127807
• Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia.
  Koroglu Ozge Altun, et al. Pediatric research 2014 8 (2) 171-6
• Correlation between methyltetrahydrofolate reductase (MTHFR) polymorphisms and isolated patent ductus arteriosus in Taiwan.
  Chao Chia-Sheng, et al. Heart, lung & circulation 2014 7 (7) 655-60
• Patent Ductus Arteriosus
  From NHLBI health topic site
• Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.
  Xiong Fu, et al. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 0 0 (2) 141-5
• R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.
  Beffagna Giorgia, et al. Journal of cardiovascular medicine (Hagerstown, Md.) 2013 8 (8) 582-6
• [Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases].
  Li Jian, et al. Zhonghua xin xue guan bing za zhi 2012 5 (5) 402-5
• [Association between rs6658835 polymorphism of transforming growth factor beta 2 gene and congenital heart diseases in Chinese Han population].
  Xie Jun, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2012 4 (2) 210-3
• Mutations of TFAP2B in congenital heart disease patients in Mysore, South India.
  Lingaiah K, et al. The Indian journal of medical research 2011 11 (5) 5
• Absence of association between length variation of an intronic region in the NFATC1 gene and congenital heart defects in a Han Chinese population.
  Liu Hanmin, et al. DNA and cell biology 2012 1 (1) 88-91
• [Mutation of TFAP-2B gene in patients with patent ductus arteriosus].
  Chen Yi-wei, et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2010 12 (12) 900-4
• Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
  Peng Ting, et al. Genetica 2010 12 (11-12) 1231-40
• Are cytochrome P450 CYP2C8 and CYP2C9 polymorphisms associated with ibuprofen response in very preterm infants?
  Durrmeyer Xavier, et al. PloS one 2010 0 (8) e12329
• Mannose-binding lectin gene polymorphism and early neonatal outcome in preterm infants.
  Koroglu Ozge Altun, et al. Neonatology 2010 0 (4) 305-12
• Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
  Dagle John M, et al. Pediatrics 2009 4 (4) 1116-23
• NKX2.5 mutations in patients with non-syndromic congenital heart disease.
  Gioli-Pereira Luciana, et al. International journal of cardiology 2010 2 (3) 261-5
• PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
  Ko Jung Min, et al. Journal of human genetics 2008 0 (11-12) 999-1006
• Association of interferon gamma T+874A and interleukin 12 p40 promoter CTCTAA/GC polymorphism with the need for respiratory support and perinatal complications in low birthweight neonates.
  Bokodi G, et al. Archives of disease in childhood. Fetal and neonatal edition 2007 1 (1) F25-9
• BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.
  Roberts K E, et al. The European respiratory journal 2004 9 (3) 371-4
• Gender dependent association between perinatal morbidity and estrogen receptor-alpha Pvull polymorphism.
  Derzbach László, et al. Journal of perinatal medicine 2005 0 (5) 461-2
• Maternal and offspring MTHFR gene C677T polymorphism as predictors of congenital atrial septal defect and patent ductus arteriosus.
  Zhu Wenli L, et al. Molecular human reproduction 2006 1 (1) 51-4