Detalhe da pesquisa
1.
Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.
Europace
; 25(11)2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37897496
2.
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Eur Heart J
; 43(15): 1500-1510, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34557911
3.
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Circulation
; 141(6): 418-428, 2020 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31983240
4.
Diagnostic Workflow in Competitive Athletes with Ventricular Arrhythmias and Suspected Concealed Cardiomyopathies.
Medicina (Kaunas)
; 57(2)2021 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672601
5.
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
BMC Cardiovasc Disord
; 20(1): 156, 2020 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32248794
6.
Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Circulation
; 138(12): 1195-1205, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959160
7.
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.
Circulation
; 129(10): 1092-103, 2014 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352520
8.
Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes.
JAMA
; 310(8): 821-8, 2013 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23982368
9.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066275
10.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872640
11.
Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing.
Heart Rhythm
; 19(5): 798-806, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999275
12.
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Biomolecules
; 12(8)2022 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008935
13.
Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology.
Int J Cardiol
; 364: 169-177, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662561
14.
Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias.
Heart Rhythm
; 17(2): 230-237, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31470130
15.
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.
Hum Mutat
; 29(10): 1237-46, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18546297
16.
Fatty acid profile of erythrocyte membranes as possible biomarker of longevity.
Rejuvenation Res
; 11(1): 63-72, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18160025
17.
Pleiotropic Phenotypes Associated With PKP2 Variants.
Front Cardiovasc Med
; 5: 184, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30619891
18.
Corrigendum to "Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology" [International Journal of Cardiology Volume 364, 1 October 2022, Pages 169-177].
Int J Cardiol
; 370: 476, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344375
19.
Editorial: The role of genetics and non-coding RNAs in atrial fibrillation.
Front Cardiovasc Med
; 9: 997700, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35990985
20.
A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia.
PLoS One
; 12(10): e0185797, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29020091