Detalhe da pesquisa
1.
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
2.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
3.
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
4.
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
5.
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
6.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
7.
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
8.
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
9.
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
J Clin Oncol
; 40(22): 2426-2435, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394817
10.
Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?
Genet Med
; 18(4): 307-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26158230
11.
Social and medical need for whole genome high resolution NIPT.
Mol Genet Genomic Med
; 8(1): e1062, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31790156
12.
[Incidental detection of maternal malignancy in non-invasive prenatal test]. / Maligniteit als nevenbevinding bij de niet-invasieve prenatale test.
Ned Tijdschr Geneeskd
; 1632019 01 24.
Artigo
em Holandês
| MEDLINE | ID: mdl-30698367
13.
Phenotypic consequences of a novel SCO2 gene mutation.
Am J Med Genet A
; 146A(21): 2822-7, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18924171
14.
Another rare prenatal case of post-zygotic mosaic trisomy 17.
Am J Med Genet A
; 161A(5): 1196-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23512336
15.
False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.
PLoS One
; 11(1): e0146794, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771677
16.
Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
Mol Cytogenet
; 9(1): 69, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27610202
17.
The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.
J Clin Med
; 3(3): 713-23, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26237473
18.
Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
Eur J Hum Genet
; 22(7): 856-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24193341
19.
Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype.
J Clin Endocrinol Metab
; 94(12): 4717-27, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19864454