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
em Inglês
| MEDLINE | ID: mdl-38538566
2.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743782
3.
Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.
Lab Invest
; 103(11): 100233, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567389
4.
Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.
Clin Endocrinol (Oxf)
; 99(1): 58-63, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905105
5.
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Prenat Diagn
; 43(2): 162-182, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808910
6.
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
7.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
8.
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies.
Clin Genet
; 100(6): 647-658, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155632
9.
Clinical aspects of a large group of adults with Angelman syndrome.
Am J Med Genet A
; 185(1): 168-181, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108066
10.
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
em Inglês
| MEDLINE | ID: mdl-33249554
11.
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
J Med Genet
; 57(9): 581-589, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303604
12.
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
13.
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
14.
Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.
Clin Endocrinol (Oxf)
; 100(5): 466-467, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469934
15.
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.
Am J Med Genet A
; 173(9): 2451-2455, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28631899
16.
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Clin Endocrinol (Oxf)
; 85(2): 247-57, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26935236
17.
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
Hum Genet
; 134(8): 881-93, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26017485
18.
The proprotein convertase FURIN is a novel aneurysm predisposition gene impairing TGF-ß signaling.
Cardiovasc Res
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636100
19.
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
20.
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Hum Mutat
; 34(10): 1313-21, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23776008