Detalhe da pesquisa
1.
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Int J Legal Med
; 137(2): 345-351, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36693943
2.
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Hum Genet
; 141(10): 1579-1589, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34546463
3.
Blood Biomarkers for the Early Diagnosis of Stroke: The Stroke-Chip Study.
Stroke
; 48(9): 2419-2425, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28716979
4.
The catalytic site structural gate of adenosine deaminase allosterically modulates ligand binding to adenosine receptors.
FASEB J
; 27(3): 1048-61, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23193172
5.
Exploring early stages of the chemical unfolding of proteins at the proteome scale.
PLoS Comput Biol
; 9(12): e1003393, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24348236
6.
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Front Genet
; 14: 1135438, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37035729
7.
Allosteric regulation of PKCθ: understanding multistep phosphorylation and priming by ligands in AGC kinases.
Proteins
; 80(1): 269-80, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072623
8.
High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP.
Exp Biol Med (Maywood)
; 247(3): 276-281, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34903068
9.
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
J Pers Med
; 12(2)2022 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35207729
10.
Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.
Front Pediatr
; 9: 704580, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34395343
11.
Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.
J Pers Med
; 11(3)2021 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33652588
12.
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
EBioMedicine
; 54: 102732, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32268277
13.
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
14.
Adefovir for chronic hepatitis B treatment: identification of virological markers linked to therapy response.
Antivir Ther
; 13(8): 991-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19195324
15.
Characterization of compensated mutations in terms of structural and physico-chemical properties.
J Mol Biol
; 365(1): 249-56, 2007 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-17059831
16.
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
17.
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
18.
PupasView: a visual tool for selecting suitable SNPs, with putative pathological effect in genes, for genotyping purposes.
Nucleic Acids Res
; 33(Web Server issue): W501-5, 2005 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15980522
19.
A clinical-genetic approach to assessing cardiovascular risk in patients with CKD.
Clin Kidney J
; 10(5): 672-678, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28979779
20.
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