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A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylationHuman Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease ModelingLong-QT syndrome: from genetics to managementHuman iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correctionMolecular pathogenesis of long QT syndrome type 2Drug- and non-drug-associated QT interval prolongation.Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.Inherited long QT syndrome: clinical manifestation, genetic diagnostics, and therapy.Left thoracoscopic sympathectomy used as primary therapy for a young child with intractable long QT syndrome.Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.Long QT syndrome in South Africa: the results of comprehensive genetic screening.Surgical cardiac denervation therapy for treatment of congenital ion channelopathies in pediatric patients: a contemporary, single institutional experience.Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family.Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.Drug-induced QT interval shortening: potential harbinger of proarrhythmia and regulatory perspectives.The role of the epinephrine test in the diagnosis and management of children suspected of having congenital long QT syndromeCardiac Ion Channel Regulation in Obesity and the Metabolic Syndrome: Relevance to Long QT Syndrome and Atrial FibrillationIsogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.MicroRNAs in cardiac arrhythmia: DNA sequence variation of MiR-1 and MiR-133A in long QT syndromeMendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of StellenboschIsoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome.Nicorandil normalizes prolonged repolarisation in the first transgenic rabbit model with Long-QT syndrome 1 both in vitro and in vivo.Genetic analysis, in silico prediction, and family segregation in long QT syndrome.A pilot study of QT interval analysis in overweight and obese youthNonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.Microarray analysis reveals higher gestational folic Acid alters expression of genes in the cerebellum of mice offspring-a pilot study.General anxiety, depression, and physical health in relation to symptoms of heart-focused anxiety- a cross sectional study among patients living with the risk of serious arrhythmias and sudden cardiac deathAge-and sex-dependent mRNA expression of KCNQ1 and HERG in patients with long QT syndrome type 1 and 2.Anesthesia for videoscopic left cardiac sympathetic denervation in children with congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia--a case series.Impact of Mendelian inheritance in cardiovascular disease.Prevalence and Risk Factors of Drug-Associated Corrected QT Prolongation in Elderly Hospitalized Patients: Results of a Retrospective Analysis of Data Obtained Over 6 Months.Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome.Characterization of the platelet transcriptome by RNA sequencing in patients with acute myocardial infarction.Life Threatening Severe QTc Prolongation in Patient with Systemic Lupus Erythematosus due to Hydroxychloroquine.Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.Empirical correlation of triggered activity and spatial and temporal re-entrant substrates with arrhythmogenicity in a murine model for Jervell and Lange-Nielsen syndrome.Genetic basis of malignant channelopathies and ventricular fibrillation in the structurally normal heart.A hot topic: temperature sensitive sodium channelopathies.
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P2860
description
wetenschappelijk artikel
@nl
наукова стаття, опублікована в липні 2008
@uk
name
Congenital long QT syndrome
@en
Congenital long QT syndrome
@nl
type
label
Congenital long QT syndrome
@en
Congenital long QT syndrome
@nl
prefLabel
Congenital long QT syndrome
@en
Congenital long QT syndrome
@nl
P2860
P50
P356
P1476
Congenital long QT syndrome
@en
P2093
Giuseppe Celano
P2860
P2888
P356
10.1186/1750-1172-3-18
P407
P5008
P577
2008-07-07T00:00:00Z
P6179
1007814766