Detalhe da pesquisa
1.
Molecular and cellular neurocardiology in heart disease.
J Physiol
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778747
2.
Effects of cohort, genotype, variant, and maternal ß-blocker treatment on foetal heart rate predictors of inherited long QT syndrome.
Europace
; 25(11)2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37975542
3.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
; 142(4): 324-338, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429735
4.
Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons.
Am J Physiol Heart Circ Physiol
; 321(1): H217-H227, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34142889
5.
Functional coculture of sympathetic neurons and cardiomyocytes derived from human-induced pluripotent stem cells.
Am J Physiol Heart Circ Physiol
; 319(5): H927-H937, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822546
6.
Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.
Am J Obstet Gynecol
; 222(3): 263.e1-263.e11, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520628
7.
The Brain-Heart Connection in Sympathetically Triggered Inherited Arrhythmia Syndromes.
Heart Lung Circ
; 29(4): 529-537, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31959550
8.
SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.
Eur Heart J
; 39(31): 2879-2887, 2018 08 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30059973
9.
Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects.
Heart Lung Circ
; 28(1): 22-30, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389366
10.
Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.
BMC Med Genet
; 18(1): 74, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28720088
11.
Convergence of models of human ventricular myocyte electrophysiology after global optimization to recapitulate clinical long QT phenotypes.
J Mol Cell Cardiol
; 100: 25-34, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27663173
12.
Vestibular dysfunction is a clinical feature of the Jervell and Lange-Nielsen Syndrome.
Scand Cardiovasc J
; 49(1): 7-13, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25471708
13.
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
BMC Cardiovasc Disord
; 14: 22, 2014 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552659
14.
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.
Circ Heart Fail
; 17(3): e010970, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456273
15.
Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification.
medRxiv
; 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38370760
16.
Vectorcardiographic recordings of the Q-T interval in a pediatric long Q-T syndrome population.
Pediatr Cardiol
; 34(2): 245-9, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22806714
17.
Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome.
Cardiol Young
; 23(3): 325-34, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22805636
18.
Cardiac response to water activities in children with Long QT syndrome type 1.
PLoS One
; 18(12): e0295431, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38060596
19.
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
Europace
; 14(12): 1799-806, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22539601
20.
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
BMC Cardiovasc Disord
; 12: 95, 2012 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23098067