Detalhe da pesquisa
1.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659929
2.
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Prenat Diagn
; 44(4): 401-408, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141050
3.
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
4.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Am J Hum Genet
; 105(6): 1091-1101, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708118
5.
Factors associated with poor outcome in fetuses prenatally diagnosed with sacrococcygeal teratoma.
Prenat Diagn
; 41(11): 1430-1438, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327722
6.
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
7.
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
8.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803237
9.
Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
Acta Obstet Gynecol Scand
; 99(6): 765-774, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32306377
10.
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Prenat Diagn
; 38(12): 911-919, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187503
11.
Ethnicity and Language Proficiency Differences in the Provision of and Intention to Use Prenatal Screening for Down's Syndrome and Congenital Anomalies. A Prospective, Non-selected, Register-Based Study in the Netherlands.
Matern Child Health J
; 22(3): 343-354, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28884405
12.
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Hum Mutat
; 38(7): 880-888, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28409863
13.
Inequalities in uptake of prenatal screening according to ethnicity and socio-economic status in the four largest cities of the Netherlands (2011-2013).
Prenat Diagn
; 37(10): 959-967, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28621806
14.
An Audit of Second-Trimester Fetal Anomaly Scans Based on a Novel Image-Scoring Method in the Southwest Region of the Netherlands.
J Ultrasound Med
; 36(6): 1171-1179, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28299806
15.
The effectiveness of multifetal pregnancy reduction in trichorionic triplet gestation.
Am J Obstet Gynecol
; 211(5): 536.e1-6, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24769009
16.
Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007-2009).
Prenat Diagn
; 34(3): 259-64, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375422
17.
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
Am J Med Genet A
; 161A(6): 1376-80, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613326
18.
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Am J Med Genet A
; 161A(6): 1394-400, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23633388
19.
Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring.
Birth Defects Res A Clin Mol Teratol
; 97(1): 60-6, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23283831
20.
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
Mol Cytogenet
; 16(1): 26, 2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37775759