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Last Posted: Sep 22, 2024

• [Maternal MTR gene polymorphisms and their interactions with periconceptional folic acid supplementation in relation to offspring ventricular septal defects].
  Xiao-Rui Ruan, et al. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2024 0 (9) 899-906
• ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.
  Xiaoxi Luo, et al. Genome medicine 2024 0 (1) 97
• FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population.
  Yunhan Zhang, et al. BMC medical genomics 2024 0 (1) 197
• Association of Maternal Dietary Habits and Infant MTHFR Gene Polymorphisms with Ventricular Septal Defect in Offspring: A Case-Control Study.
  Xiaorui Ruan, et al. Nutrients 2024 0 (13)
• Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
  Chung-Lin Lee, et al. Diagnostics (Basel, Switzerland) 2024 0 (8)
• Molecular Genetic Study on HAND2 Gene Promoter in Ventricular Septal Defect.
  Meikun Li, et al. International heart journal 2023 0 (6) 1140-1147
• Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot.
  Drayton C Harvey, et al. Frontiers in cardiovascular medicine 2023 0 1249605
• Classification of normal and abnormal fetal heart ultrasound images and identification of ventricular septal defects based on deep learning.
  Yiru Yang et al. J Perinat Med 2023
• Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs).
  Sarwar Sumbal, et al. BMC pediatrics 2023 0 (1) 67
• Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.
  Khatami Mehri, et al. Medicina (Kaunas, Lithuania) 2018 0 (3)
• Novel mutation of GATA4 gene in Kurdish population of Iran with nonsyndromic congenital heart septals defects.
  Soheili Fariborz, et al. Congenital heart disease 2018 0 (2) 295-304
• First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD).
  Sarwar Sumbal, et al. Italian journal of pediatrics 2021 0 (1) 70
• Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
  Onesimo Roberta, et al. American journal of medical genetics. Part A 2021 0 (7) 2003-2011
• Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.
  Sun Hairui, et al. Frontiers in cardiovascular medicine 2021 0 617561
• Association and Interaction Effect of BHMT Gene Polymorphisms and Maternal Dietary Habits with Ventricular Septal Defect in Offspring.
  Luo Manjun, et al. Nutrients 2022 0 (15)
• Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population.
  Sarwar Sumbal, et al. Italian journal of pediatrics 2022 0 (1) 124
• Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
  Thiem Corina E, et al. Birth defects research 2022 0 (10) 478-486
• Association of Maternal Dietary Habits and MTHFD1 Gene Polymorphisms With Ventricular Septal Defects in Offspring: A Case-Control Study.
  Song Xinli, et al. Frontiers in pediatrics 2021 0 785440
• Clinical aspects of 22q11.2 microdeletion syndrome
  Szumutku Fanni et al. Orvosi hetilap 2022 163(1) 21-30
• Novel Point Mutations in 3'-Untranslated Region of GATA4 Gene Are Associated with Sporadic Non-syndromic Atrial and Ventricular Septal Defects.
  Khatami Mehri, et al. Current medical science 2021 10
• The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal NIPS.
  Sagi-Dain Lena et al. American journal of obstetrics and gynecology 2021
• Novel Point Mutations of CITED2 Gene Are Associated with Non-familial Congenital Heart Disease (CHD) in Sporadic Pediatric Patients.
  Dianatpour Sima, et al. Applied biochemistry and biotechnology 2019 9
• Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.
  Zhang Yanwei, et al. Medicine 2017 5 (18) e6857
• Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5.
  Gao Xiaobo, et al. Clinical science (London, England : 1979) 2019 6
• Silencing mutations in JAG1 gene may play crucial roles in the pathogenesis of Tetralogy of Fallot.
  Safari-Arababadi Amin, et al. Cellular and molecular biology (Noisy-le-Grand, France) 2018 3 (4) 103-107
• Analysis of MTR and MTRR Gene Polymorphisms in Chinese Patients With Ventricular Septal Defect.
  Su Jiang, et al. Applied immunohistochemistry & molecular morphology : AIMM 2017 12
• Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series.
  Borkar Yashvanthi, et al. Journal of clinical and diagnostic research : JCDR 2017 3 (3) GR01-GR04
• TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population.
  Yang Liping, et al. Genetic testing and molecular biomarkers 2017 3
• Association of DARS gene polymorphisms with the risk of isolated ventricular septal defects in the Chinese Han population.
  Feng Yu, et al. Italian journal of pediatrics 2016 11 (1) 102
• MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
  Christensen Karen E, et al. Birth defects research. Part A, Clinical and molecular teratology 2015 9
• Genetic variants of the endothelial NO synthase gene (eNOS) may confer increased risk of sporadic congenital heart disease.
  Zhou K, et al. Genetics and molecular research : GMR 2014 0 (2) 3805-11
• Novel and functional DNA sequence variants within the GATA6 gene promoter in ventricular septal defects.
  Li Chunyu, et al. International journal of molecular sciences 2014 0 (7) 12677-87
• Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.
  Alcántara-Ortigoza Miguel A, et al. Pediatric cardiology 2015 4 (4) 802-8
• Maternal medication use, fetal 3435 C>T polymorphism of the ABCB1 gene, and risk of isolated septal defects in a Han Chinese population.
  Wang Chuan, et al. Pediatric cardiology 2014 10 (7) 1132-41
• Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?
  Aksoy M, et al. Genetics and molecular research : GMR 2014 0 (1) 1949-54
• Novel and functional variants within the TBX18 gene promoter in ventricular septal defects.
  Ma Liming, et al. Molecular and cellular biochemistry 2013 10 (1-2) 121-6
• Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.
  Pang Shuchao, et al. Biochimie 2013 9 (9) 1807-9
• Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects.
  Huang Wenhui, et al. Gene 2013 7 (2) 152-5
• Genetic analysis of the TBX3 gene promoter in ventricular septal defects.
  Chen Dongfeng, et al. Gene 2013 1 (2) 185-8
• Genetic analysis of the SIRT1 gene promoter in ventricular septal defects.
  Shan Jiping, et al. Biochemical and biophysical research communications 2012 9 (4) 741-5

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