Detalhe da pesquisa
1.
VariantDetective: an accurate all-in-one pipeline for detecting consensus bacterial SNPs and SVs.
Bioinformatics
; 40(2)2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366603
2.
Endomyocardial biopsy: safety and prognostic utility in paediatric and adult myocarditis in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Long-Term Registry.
Eur Heart J
; 2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38594778
3.
Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Eur Heart J
; 45(16): 1443-1454, 2024 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427064
4.
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Clin Genet
; 105(2): 185-189, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904629
5.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clin Genet
; 105(6): 676-682, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356193
6.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
7.
Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.
J Card Fail
; 27(6): 677-681, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34088380
8.
Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods.
Health Qual Life Outcomes
; 19(1): 187, 2021 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321045
9.
Assessment of atrial function by myocardial deformation techniques in hypertrophic cardiomyopathy.
Echocardiography
; 38(2): 230-237, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33382507
10.
Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies.
Hum Mol Genet
; 27(18): 3206-3217, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29901742
11.
Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.
Europace
; 22(2): 320-329, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845994
12.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Am J Hum Genet
; 99(3): 666-673, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523598
13.
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.
Clin Genet
; 95(3): 356-367, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471092
14.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Clin Genet
; 96(4): 317-329, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245841
15.
The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.
Eur Heart J
; 39(20): 1784-1793, 2018 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29378019
16.
Hypertrophic obstructive cardiomyopathy.
Lancet
; 389(10075): 1253-1267, 2017 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912983
17.
High intraspecific genome diversity in the model arbuscular mycorrhizal symbiont Rhizophagus irregularis.
New Phytol
; 220(4): 1161-1171, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29355972
18.
European Reference Network for rare, low prevalence, or complex diseases of the heart (ERN GUARD-Heart): 5 year anniversary.
Eur Heart J
; 43(23): 2173-2176, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257167
19.
2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death.
Eur Heart J
; 43(40): 3997-4126, 2022 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36017572
20.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Europace
; 19(4): 651-659, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431061