Detalhe da pesquisa
1.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
Eur Heart J
; 44(35): 3357-3370, 2023 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528649
2.
A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia.
Am J Med Genet A
; 191(12): 2837-2842, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37554039
3.
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Eur Heart J
; 42(29): 2854-2863, 2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34219138
4.
Identification of transmembrane protein 168 mutation in familial Brugada syndrome.
FASEB J
; 34(5): 6399-6417, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32175648
5.
Novel electrocardiographic criteria for short QT syndrome in children and adolescents.
Europace
; 23(12): 2029-2038, 2021 12 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34179980
6.
Electrocardiographic Diagnosis of Hypertrophic Cardiomyopathy in the Pre- and Post-Diagnostic Phases in Children and Adolescents.
Circ J
; 86(1): 118-127, 2021 12 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34615813
7.
Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation.
Med Mol Morphol
; 54(3): 259-264, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33651170
8.
Dynamic QT response to cold-water face immersion in long-QT syndrome type 3.
Pediatr Int
; 62(8): 899-906, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32449227
9.
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
Eur Heart J
; 40(35): 2964-2975, 2019 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31170290
10.
Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.
Hum Mol Genet
; 26(9): 1670-1677, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335032
11.
HCN4 pacemaker channels attenuate the parasympathetic response and stabilize the spontaneous firing of the sinoatrial node.
J Physiol
; 596(5): 809-825, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315578
12.
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Circulation
; 135(23): 2255-2270, 2017 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341781
13.
Clinical Manifestations and Long-Term Mortality in Lamin A/C Mutation Carriers From a Japanese Multicenter Registry.
Circ J
; 82(11): 2707-2714, 2018 10 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30078822
14.
Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.
J Hum Genet
; 62(11): 989-995, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28747690
15.
European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.
Europace
; 24(8): 1307-1367, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373836
16.
A nonsynonymous polymorphism in semaphorin 3A as a risk factor for human unexplained cardiac arrest with documented ventricular fibrillation.
PLoS Genet
; 9(4): e1003364, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23593010
17.
Pathological Features of Lamin Cardiomyopathy.
Circ J
; 84(7): 1193, 2020 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32336741
18.
Molecular Mechanisms Underlying Urate-Induced Enhancement of Kv1.5 Channel Expression in HL-1 Atrial Myocytes.
Circ J
; 79(12): 2659-68, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26477273
19.
Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.
Europace
; 16(11): 1646-54, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24394973
20.
Successful control of life-threatening polymorphic ventricular tachycardia by radiofrequency catheter ablation in an infant.
Heart Vessels
; 29(3): 422-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23836069