Detalhe da pesquisa
1.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Am J Hum Genet
; 2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38815585
2.
Left Atrial Function in Patients with Titin Cardiomyopathy.
J Card Fail
; 30(1): 51-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37230314
3.
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Am J Med Genet A
; 191(2): 479-489, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380655
4.
The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
Europace
; 25(11)2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37967257
5.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 24(10): 2112-2122, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053285
6.
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences.
Eur Heart J
; 42(2): 162-174, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33156912
7.
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Genet Med
; 23(11): 2186-2193, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194005
8.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genet Med
; 23(1): 47-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32893267
9.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
10.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat
; 41(6): 1091-1111, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112656
11.
Metabolic Profiling Associates with Disease Severity in Nonischemic Dilated Cardiomyopathy.
J Card Fail
; 26(3): 212-222, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31541741
12.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 26(2): 101024, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38085215
13.
Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias.
Eur Heart J
; 39(10): 864-873, 2018 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29377983
14.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Am J Hum Genet
; 94(5): 734-44, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726473
15.
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
Eur Heart J
; 37(23): 1815-22, 2016 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26497160
16.
Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients.
Circulation
; 142(12): 1230-1232, 2020 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32955937
17.
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Circulation
; 142(10): 1021-1024, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897753
18.
Clustering of Cardiac Transcriptome Profiles Reveals Unique: Subgroups of Dilated Cardiomyopathy Patients.
JACC Basic Transl Sci
; 8(4): 406-418, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37138803
19.
Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy.
Eur J Hum Genet
; 31(7): 776-783, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198425
20.
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Circ Genom Precis Med
; 16(2): e003788, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36971006