Associated Papers
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
High-risk genes involved in common septal defects of congenital heart disease.
Chaithra S et al.
Gene, 2022
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
Yagasaki H et al.
American Journal of Medical Genetics. Part A, 2022
Genetic insights into non-syndromic Tetralogy of Fallot.
Althali NJ et al.
Frontiers in Physiology, 2022
In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi S et al.
Journal of Cardiovascular and Thoracic Research, 2021
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA et al.
Molecular Genetics & Genomic Medicine, 2020
Genomic Analysis of Korean Patient With Microcephaly.
Lee J et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.
Kalayinia S et al.
Journal of Clinical Laboratory Analysis, 2019
Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.
Choi JH et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Functionally significant, novel GATA4 variants are frequently associated with Tetralogy of Fallot.
Dixit R et al.
Human Mutation, 2018
[Association of single nucleotide polymorphisms of transcription factors with congenital heart diseases in the Chinese population: a Meta analysis].
Chen LT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation.
Qian Y et al.
Journal of Translational Medicine, 2017
Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population.
Liu Y et al.
Pediatric Cardiology, 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.
Zhang X et al.
Plos One, 2016
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R et al.
European Journal of Medical Genetics, 2014
GATA4 specific nonsynonymous single-nucleotide polymorphisms in congenital heart disease patients of Mysore, India.
Dinesh SM et al.
Genetic Testing and Molecular Biomarkers, 2011
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.
Peng T et al.
Genetica, 2010
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.
Guida V et al.
Disease Markers, 2010
GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease.
Zhang WM et al.
Chinese Medical Journal, 2009
Effect of Structural Changes in Proteins Derived from GATA4 Nonsynonymous Single Nucleotide Polymorphisms in Congenital Heart Disease.
Manjegowda DS et al.
Indian Journal of Pharmaceutical Sciences, 0