Results 81 to 90 of about 860 (142)

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, Junyu Long, Tianrui Hua, Zhifa Zheng, Ying Xiao, Lianfeng Chen, Kang Yu, Wei Wu, Shuyang Zhang   +8 more
doaj   +1 more source

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, Tien HC, Lo CP, Juang JM, Wang YH, Sung RJ   +5 more
doaj  

Mitochondrial DNA polymorphisms in Andersen–Tawil syndrome

Kardiologia Polska, 2020
Armando, Totomoch-Serra, Cesar A, Brito-Carreón, Maria, de L Muñoz, David, Cervantes-Barragan, Manlio F, Márquez   +4 more
openaire   +3 more sources

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

Neurología (English Edition), 2020
S. Parra, D. Leal, R. Vilar, M. Mateo, J. Melero   +4 more
doaj   +1 more source

Andersen-Tawil syndrome - a case report [PDF]

Neurologia Dziecięca, 2018
Katarzyna Wójcik-Borowska, Magdalena Chrościńska-Krawczyk, Ewa Zienkiewicz, Magdalena Małka, Maria Klatka   +4 more
openaire   +3 more sources

Compound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome. [PDF]

BMJ Case Rep, 2020
Polyak ME, Shestak A, Podolyak D, Zaklyazminskaya E.   +3 more
europepmc   +1 more source

024 Andersen-Tawil syndrome: multi-system deep phenotyping of a large UK cohort

BMJ Neurology Open, 2021
Michael G Hanna, Vinojini Vivekanandam, Emma Matthews   +2 more
doaj   +1 more source

The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report. [PDF]

Eur Heart J Case Rep
Stavnem D, Bhardwaj P, Tfelt-Hansen J, Hansen CJ, Winkel BG.   +4 more
europepmc   +1 more source

Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations. [PDF]

Ann Noninvasive Electrocardiol, 2020
Horigome H, Ishikawa Y, Kokubun N, Yoshinaga M, Sumitomo N, Lin L, Kato Y, Tanabe-Kameda Y, Ohno S, Nagashima M, Horie M.   +10 more
europepmc   +1 more source

Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report. [PDF]

Eur J Anaesthesiol
Biernacka EK, Stec SM, Krych M, Ogorzelec N, Kowalewski M, Suwalski P.   +5 more
europepmc   +1 more source