Results 111 to 120 of about 2,073 (179)

Genotype-Phenotype Relationships in Long QT Syndrome : Role of Mental Stress, Adrenergic Activity and a Common KCNH2 Polymorphism [PDF]

, 2006
Long QT syndrome is a congenital or acquired arrhythmic disorder which manifests as a prolonged QT-interval on the electrocardiogram and as a tendency to develop ventricular arrhythmias which can lead to sudden death.
Paavonen, Kristian
core  

Conformational changes at cytoplasmic intersubunit interactions control Kir channel gating [PDF]

, 2017
Borschel, William F, Heyman, Sarah, Hsu, Phillip, Nichols, Colin G, Wang, Shizhen   +4 more
core   +2 more sources

Andersen-Tawil syndrome – a case report [PDF]

Child Neurology, 2018
Katarzyna Wójcik-Borowska, Magdalena Chrościńska-Krawczyk, Ewa Zienkiewicz, Magdalena Małka, Maria Klatka   +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, Tien HC, Lo CP, Juang JM, Wang YH, Sung RJ   +5 more
doaj  

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

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

Experimental Mapping of the Canine KCNJ2 and KCNJ12 Gene Structures and Functional Analysis of the Canine KIR2.2 ion Channel [PDF]

, 2012
Marien J. C. Houtman, Hiroki Takanari, Bart G. J. M. Kok, Margot van Eck, Denise R. Montagne, Marc A. Vos, Teun P. de Boer, Marcel A. G. van der Heyden   +7 more
core   +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

Thyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review. [PDF]

Cureus, 2020
Iskander B, Malik BH, Cancarevic I.
europepmc   +1 more source