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.
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Prenat Diagn
; 44(3): 289-296, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342960
3.
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
4.
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
5.
An 8q24 Gain in Pancreatic Juice Is a Candidate Biomarker for the Detection of Pancreatic Cancer.
Int J Mol Sci
; 24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982172
6.
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
7.
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
8.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Acta Obstet Gynecol Scand
; 100(11): 2036-2043, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472080
9.
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
10.
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
11.
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
12.
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Prenat Diagn
; 39(11): 1016-1025, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321790
13.
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
14.
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
15.
The first de novo non-mosaic 14q11.2q13.1 tetrasomy of paternal origin.
Am J Med Genet A
; 170A(5): 1283-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789739
16.
Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.
Hum Mutat
; 36(3): 319-26, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504762
17.
Prenatal counseling of an isolated fetal small head circumference during the second trimester expert ultrasound examination.
Eur J Obstet Gynecol Reprod Biol
; 294: 58-64, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38218159
18.
0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice.
Hum Mutat
; 34(9): 1298-303, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23674485
19.
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism.
Am J Med Genet A
; 161A(9): 2347-51, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918240
20.
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing.
Appl Clin Genet
; 16: 89-97, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216148