Detalhe da pesquisa
1.
The Selectivity for Tumor Cells of Nuclear-Directed Cytotoxic RNases Is Mediated by the Nuclear/Cytoplasmic Distribution of p27KIP1.
Molecules
; 26(5)2021 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33801209
2.
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Hum Mutat
; 40(6): 749-764, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30821013
3.
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
Int J Legal Med
; 130(2): 331-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26423924
4.
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
Int J Mol Sci
; 16(10): 25773-87, 2015 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26516846
5.
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.
Cell Rep Med
; 2(4): 100250, 2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33948580
6.
Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
Forensic Sci Int Genet
; 47: 102281, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248082
7.
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
J Clin Med
; 8(7)2019 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31315195
8.
Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.
Front Genet
; 10: 450, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31156706
9.
Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients.
PLoS One
; 13(7): e0200756, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30020974
10.
Molecular autopsy in a cohort of infants died suddenly at rest.
Forensic Sci Int Genet
; 37: 54-63, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086531
11.
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.
Eur J Hum Genet
; 26(7): 1014-1025, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511324
12.
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
PLoS One
; 12(12): e0189618, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261713
13.
Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.
Biology (Basel)
; 7(1)2017 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29278359
14.
A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia.
Forensic Sci Int
; 270: 173-177, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27988446
15.
Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.
Sports Med
; 47(10): 2101-2115, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255936
16.
Genetic analysis in post-mortem samples with micro-ischemic alterations.
Forensic Sci Int
; 271: 120-125, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28086167
17.
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PLoS One
; 12(8): e0181465, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771489
18.
Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
PLoS One
; 12(2): e0171893, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28166282
19.
Large Genomic Imbalances in Brugada Syndrome.
PLoS One
; 11(9): e0163514, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27684715
20.
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
PLoS One
; 11(12): e0167358, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27930701