Detalhe da pesquisa
1.
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Circulation
; 148(10): 808-818, 2023 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37463608
2.
Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.
J Struct Biol
; 215(3): 108009, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37549721
3.
Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.
Circulation
; 146(2): 110-124, 2022 07 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35708014
4.
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
Inglês
| MEDLINE | ID: mdl-34400558
5.
Precision measurement of cardiac structure and function in cardiovascular magnetic resonance using machine learning.
J Cardiovasc Magn Reson
; 24(1): 16, 2022 03 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35272664
6.
Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy Using Quantitative Proteomics and Machine Learning.
Mol Cell Proteomics
; 19(1): 114-127, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31243064
7.
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
Inglês
| MEDLINE | ID: mdl-34263907
8.
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Clin Genet
; 98(1): 86-90, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32335906
9.
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
Int J Mol Sci
; 21(18)2020 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32927679
10.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Europace
; 18(6): 888-96, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-26498160
11.
Cardiovascular magnetic resonance imaging volume criteria for arrhythmogenic right ventricular cardiomyopathy: need for update?
Eur Heart J
; 41(14): 1451, 2020 04 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32031606
12.
Genetics of heart failure.
Biochim Biophys Acta
; 1832(12): 2451-61, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23298545
13.
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
J Med Genet
; 50(4): 228-39, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23396983
14.
Pregnancy in women with dilated cardiomyopathy genetic variants.
Rev Esp Cardiol (Engl Ed)
; 2024 Apr 18.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-38641168
15.
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
JACC Clin Electrophysiol
; 2024 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38727660
16.
Electrophysiological Characterization of Subclinical and Overt Hypertrophic Cardiomyopathy by Magnetic Resonance Imaging-Guided Electrocardiography.
J Am Coll Cardiol
; 83(11): 1042-1055, 2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38385929
17.
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
; 16(1): e003716, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36598836
18.
Three-dimensional echocardiography for the evaluation of hypertrophic cardiomyopathy patients: relation to symptoms and exercise capacity.
Int J Cardiovasc Imaging
; 39(12): 2475-2481, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37821713
19.
Apical Ischemia Is a Universal Feature of Apical Hypertrophic Cardiomyopathy.
Circ Cardiovasc Imaging
; 16(3): e014907, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36943913
20.
Improved Diagnostic Criteria for Apical Hypertrophic Cardiomyopathy.
JACC Cardiovasc Imaging
; 2023 Sep 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37831014