Detalhe da pesquisa
1.
iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.
Circ Res
; 133(2): 108-119, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317833
2.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Eur Heart J
; 42(32): 3063-3073, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263907
3.
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
4.
Atlas of the clinical genetics of human dilated cardiomyopathy.
Eur Heart J
; 36(18): 1123-35a, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25163546
5.
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With ß-Blockers.
JAMA Cardiol
; 7(5): 504-512, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353122
6.
Clinical utility of genetic testing in patients with dilated cardiomyopathy. / Utilidad clínica del estudio genético en pacientes con miocardiopatía dilatada.
Med Clin (Barc)
; 156(10): 485-495, 2021 05 21.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-32826072
7.
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
JAMA Cardiol
; 6(8): 891-901, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33978673
8.
Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.
Rev Esp Cardiol (Engl Ed)
; 74(3): 216-224, 2021 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-32616434
9.
Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews.
Int J Cardiol
; 317: 133-138, 2020 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32532510
10.
Prognostic implications of pathogenic truncating variants in the TTN gene.
Int J Cardiol
; 316: 180-183, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371228
11.
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
Eur J Med Genet
; 63(12): 104079, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33035702
12.
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Heart
; 106(17): 1342-1348, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451364
13.
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
J Am Coll Cardiol
; 72(20): 2457-2467, 2018 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442288
14.
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.
J Arrhythm
; 38(4): 491-553, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35936045
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.
Heart Rhythm
; 19(7): e1-e60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390533
16.
Preventing Sudden Death in Arrhythmogenic Cardiomyopathy: Careful Family and Genetic Evaluation Key to Appropriate Diagnosis and Management.
Can J Cardiol
; 37(6): 819-821, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33359000
17.
Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.
PLoS One
; 11(4): e0153851, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27100291
18.
Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.
Circ Arrhythm Electrophysiol
; 9(6)2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27217341
19.
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
J Am Coll Cardiol
; 68(22): 2440-2451, 2016 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27908349
20.
Genetics of cardiomyopathies: novel perspectives with next generation sequencing.
Curr Pharm Des
; 21(4): 418-30, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25483943