Detalhe da pesquisa
1.
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
Hum Mol Genet
; 33(12): 1090-1104, 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538566
2.
Sudden cardiac arrest in infants and children: proposal for a diagnostic workup to identify the etiology. An 18-year multicenter evaluation in the Netherlands.
Eur J Pediatr
; 183(1): 335-344, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37889292
3.
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
4.
Prognostic significance of left atrial strain in sarcomere gene variant carriers without hypertrophic cardiomyopathy.
Echocardiography
; 39(9): 1209-1218, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35978457
5.
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
J Med Genet
; 57(1): 23-30, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494578
6.
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Int J Mol Sci
; 23(1)2021 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008861
7.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480058
8.
Outcome of Insertable Cardiac Monitors in Symptomatic Patients with Brugada Syndrome at Low Risk of Sudden Cardiac Death.
Cardiology
; 145(7): 413-420, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32320984
9.
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
10.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Hum Mutat
; 39(9): 1173-1192, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907982
11.
Prenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository.
J Pediatr
; 190: 275-279, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28867065
12.
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.
Genet Med
; 18(9): 914-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26820064
13.
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
Am J Hum Genet
; 88(5): 657-63, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549339
14.
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.
Brain
; 136(Pt 4): 1146-54, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23449775
15.
Mitochondrial Cardiomyopathy: Distinctive Cardiac Phenotype Detected with Cardiovascular MRI.
Radiol Cardiothorac Imaging
; 5(2): e230014, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37124643
16.
Phenotypic variability of filamin C-related cardiomyopathy: Insights from a novel Dutch founder variant.
Heart Rhythm
; 20(11): 1512-1521, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562486
17.
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4.
Am J Med Genet A
; 158A(11): 2931-4, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987308
18.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Am J Med Genet A
; 158A(10): 2412-20, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22893440
19.
Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance.
Eur Heart J Cardiovasc Imaging
; 23(9): 1144-1154, 2022 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670722
20.
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
Circ Genom Precis Med
; 15(5): e002981, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178741