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.
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
3.
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
J Med Genet
; 59(8): 768-775, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400558
4.
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
5.
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Circulation
; 140(3): 184-192, 2019 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006259
6.
Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy.
Circulation
; 147(22): 1711-1713, 2023 05 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37253077
7.
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
8.
Lamin cardiomyopathies risk stratification.
Europace
; 23(3): 487, 2021 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33347538
9.
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
10.
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
11.
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives.
J Am Coll Cardiol
; 83(17): 1640-1651, 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38658103
12.
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy.
Genes (Basel)
; 14(3)2023 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980931
13.
Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.
Cell Rep
; 42(12): 113490, 2023 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38052212
14.
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
Amyloid
; 30(2): 199-207, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36343383
15.
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation.
Eur Heart J Cardiovasc Imaging
; 25(1): 75-85, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562008
16.
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Sci Rep
; 12(1): 7284, 2022 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35508642
17.
Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy.
Eur J Heart Fail
; 24(7): 1183-1196, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35485241
18.
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
19.
Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy.
J Am Coll Cardiol
; 80(12): 1115-1126, 2022 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36109106
20.
Natural History of MYH7-Related Dilated Cardiomyopathy.
J Am Coll Cardiol
; 80(15): 1447-1461, 2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36007715