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
; 2024 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38538566
2.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36669495
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
Inglês
| MEDLINE | ID: mdl-36380655
4.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34321323
5.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31353023
6.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 24(10): 2112-2122, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36053285
7.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33944996
8.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33249554
9.
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
Inglês
| MEDLINE | ID: mdl-35008861
10.
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
Inglês
| MEDLINE | ID: mdl-32480058
11.
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Clin Genet
; 98(1): 56-63, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32323311
12.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 26(2): 101024, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38085215
13.
Psychological well-being in patients with aneurysms-osteoarthritis syndrome.
Am J Med Genet A
; 179(8): 1491-1497, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31132219
14.
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 63(4): 539, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29576627
15.
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
Inglês
| MEDLINE | ID: mdl-26820064
16.
Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
J Hum Genet
; 61(3): 229-33, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26607181
17.
NPHP4 variants are associated with pleiotropic heart malformations.
Circ Res
; 110(12): 1564-74, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22550138
18.
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Circ Genom Precis Med
; : e003978, 2024 Apr 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38623759
19.
Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms.
J Vasc Surg
; 57(1): 96-102, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22975338
20.
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
J Med Genet
; 49(1): 47-57, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22167769