Associated Papers
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.
Yuan M et al.
Translational Pediatrics, 2023
36798937 (PubMed )
Supplement: tp-12-01-86-supplementary.pdf
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
"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
Uysal F et al.
Bmc Medical Genetics, 2017
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
The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.
van Engelen K et al.
Plos One, 2012
Expression of sumoylation deficient Nkx2.5 mutant in Nkx2.5 haploinsufficient mice leads to congenital heart defects.
Kim EY et al.
Plos One, 2011
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Rauch R et al.
Journal of Medical Genetics, 2010
Double de novo mutations in dilated cardiomyopathy with cardiac arrest.
Monaco I et al.
Journal of Electrocardiology, 0
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