Detalhe da pesquisa
1.
Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.
Am J Med Genet A
; : e63605, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752492
2.
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
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.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Clin Genet
; 97(5): 723-730, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898322
5.
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
6.
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
7.
A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy.
Am J Hum Genet
; 88(4): 488-93, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21457908
8.
A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects.
Am J Med Genet A
; 164A(11): 2732-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099673
9.
Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study.
Fetal Diagn Ther
; 36(1): 59-68, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24903004
10.
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
em Inglês
| MEDLINE | ID: mdl-38623759
11.
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Am J Med Genet C Semin Med Genet
; 163C(3): 178-84, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794396
12.
The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective.
Am J Med Genet A
; 161A(7): 1628-37, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696448
13.
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Eur J Med Genet
; 66(1): 104673, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460281
14.
A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial.
Eur J Hum Genet
; 30(2): 203-210, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815540
15.
No prominent role for complement C1-esterase inhibitor in Marfan syndrome mice.
Vasc Biol
; 4(1): 40-49, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279189
16.
Adults with congenital heart disease: patients' knowledge and concerns about inheritance.
Am J Med Genet A
; 155A(7): 1661-7, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21671389
17.
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Hum Mutat
; 31(12): E1915-27, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886638
18.
Spontaneous intracranial hypotension as first symptom of aneurysms-osteoarthritis syndrome: a case report.
Headache
; 55(5): 711-2, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25877775
19.
Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature.
Eur J Pediatr
; 168(9): 1081-90, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19089449
20.
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
BMC Med Genet
; 9: 10, 2008 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18302728