Andersen-tawil syndrome - Open Access .click

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Transcriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7

Journal of Translational Medicine
Objective Long QT syndrome type 7 (Andersen–Tawil syndrome, ATS), which is caused by KCNJ2 gene mutation, often leads to ventricular arrhythmia, periodic paralysis and skeletal malformations.
Peipei Chen +8 more
doaj +1 more source

Testes Genéticos em Cardiologia: guia de recomendações [PDF]

, 2015
O Grupo de Estudo de Biologia Celular e Genética Cardiovascular da Sociedade Portuguesa de Cardiologia decidiu reunir na atual publicação algumas das principais indicações para estudos genéticos em cardiologia.
António, Natália +3 more
core

Doctor of Philosophy [PDF]

, 2010
dissertationAndersen-Tawil syndrome Type 1 (ATS1) is a disorder linked to a loss of function of the inward rectifier current IK1. Such a reduction in repolarization reserve has an established link with heterogeneous action potential duration (APD ...
Radwański, Przemysław
core

Andersen-Tawil syndrome – a case report [PDF]

Child Neurology, 2018
Katarzyna Wójcik-Borowska +4 more
openaire +3 more sources

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies

The Application of Clinical Genetics, 2013
Pi-Yin Hsiao,1 Hui-Chun Tien,2 Chu-Pin Lo,2 Jyh-Ming Jimmy Juang,3 Yi-Hsin Wang,2 Ruey J Sung41Institute of Life Sciences, National Central University, Taoyuan, Taiwan; 2Department of Financial and Computational Mathematics, Providence University ...
Hsiao PY +5 more
doaj

Andersen-Tawil syndrome with sex-specific phenotype: usefulness of the long exercise test