Detalhe da pesquisa
1.
Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers.
J Med Genet
; 61(5): 423-427, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160043
2.
Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.
Curr Cardiol Rep
; 24(11): 1537-1546, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35994197
3.
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
4.
Emerging Themes in Genetics of Hypertrophic Cardiomyopathy: Current Status and Clinical Application.
Can J Cardiol
; 40(5): 742-753, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244984
5.
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
JACC Clin Electrophysiol
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38727660
6.
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.
Circ Genom Precis Med
; 17(2): e004404, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353104
7.
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.
Rev Esp Cardiol (Engl Ed)
; 76(5): 301-311, 2023 May.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-35952944
8.
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Rev Esp Cardiol (Engl Ed)
; 75(3): 242-250, 2022 Mar.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-33642254
9.
Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.
J Am Coll Cardiol
; 78(17): 1682-1699, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34674813
10.
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