Associated Papers
Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.
Xing G et al.
Journal of Cardiovascular Development and Disease, 2025
Genetic burden in neonatal and pediatric-onset pulmonary hypertension: A single-center retrospective study using exome sequencing in a Chinese population.
Chen C et al.
Pediatrics and Neonatology, 2025
Clinical characteristics and mortality risk factors in pediatric hypertrophic, restrictive, and rapidly progressive hypertrophic cardiomyopathy: a retrospective cohort study with follow-up.
Nawaz A et al.
Frontiers in Cardiovascular Medicine, 2025
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Focus on cardiac troponin complex: From gene expression to cardiomyopathy.
Ragusa R et al.
Genes & Diseases, 2024
The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study.
Yuan W et al.
European Journal of Pediatrics, 2024
Challenging of ECMO application in pediatric restrictive cardiomyopathy: case report of a novel TNNI3 variant.
Jin Y et al.
Frontiers in Cardiovascular Medicine, 2024
Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient.
Deng L et al.
Frontiers in Cardiovascular Medicine, 2024
Pediatric restrictive cardiomyopathy: a case report.
Dai HL et al.
The Journal of International Medical Research, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Chintanaphol M et al.
Reviews in Cardiovascular Medicine, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Halvorsen M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy.
Takeda A et al.
Journal of Clinical Pathology, 2020
Neuropathologic Changes in Sudden Unexplained Death in Childhood.
McGuone D et al.
Journal of Neuropathology and Experimental Neurology, 2020
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch J et al.
Clinical Genetics, 2019
Green tea extract catechin improves cardiac function in pediatric cardiomyopathy patients with diastolic dysfunction.
Quan J et al.
Journal of Biomedical Science, 2019
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).
Pantou MP et al.
Bmc Medical Genetics, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.
van den Wijngaard A et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010