Associated Papers
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.
Cervantes-Salazar JL et al.
Biology, 2024
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.
Spielmann N et al.
Nature Cardiovascular Research, 2022
Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.
Dixit R et al.
American Journal of Medical Genetics. Part A, 2021
An update on genetic variants of the NKX2-5.
Kolomenski JE et al.
Human Mutation, 2020
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.
Kalayinia S et al.
Journal of Cardiovascular and Thoracic Research, 2019
Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease.
Khatami M et al.
Medicina (kaunas, Lithuania), 2018
A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.
Abdul Samad F et al.
Plos One, 2016
NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity.
Abou Hassan OK et al.
Scientific Reports, 2015
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
Prendiville T et al.
Cold Spring Harbor Perspectives in Medicine, 2014
A novel NKX2-5 mutation in familial ventricular septal defect.
Wang J et al.
International Journal of Molecular Medicine, 2011
Novel NKX2-5 mutations in patients with familial atrial septal defects.
Liu XY et al.
Pediatric Cardiology, 2011
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2010
[Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects].
Liu XY et al.
Zhonghua Yi Xue Za Zhi, 2009
[Familial ventricular septal defect].
Rachocka J et al.
Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1988