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Malgorzata I Srebniak Selected Research

dichlorobis(azomycin)platinum II

1/2022Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
1/2022Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
1/2020Nuchal translucency of 3.0-3.4 mm an indication for NIPT or microarray? Cohort analysis and literature review.
1/2020Social and medical need for whole genome high resolution NIPT.
12/2019TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
10/2019Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
11/2018Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
1/2017The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
1/2016Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration.
1/2016Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.
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Malgorzata I Srebniak Research Topics

Disease

10Chromosome Aberrations (Chromosome Abnormalities)
01/2022 - 01/2016
5Aneuploidy (Aneuploid)
01/2022 - 01/2016
3Trisomy (Trisomies)
01/2022 - 11/2018
2Neoplasms (Cancer)
01/2022 - 04/2017
1Lymphoma (Lymphomas)
01/2022
1B-Cell Lymphoma (Lymphoma, B Cell)
01/2022
1Down Syndrome (Down's Syndrome)
01/2020
1Uniparental Disomy
10/2019
1Tetrasomy
05/2016
1Trisomy 18 Syndrome
01/2016
1Sialic Acid Storage Disease (Salla Disease)
10/2011

Drug/Important Bio-Agent (IBA)

11dichlorobis(azomycin)platinum IIIBA
01/2022 - 01/2016
3Cell-Free Nucleic AcidsIBA
01/2022 - 04/2017
1N-(4-isothiocyanatophenethyl)spiperoneIBA
11/2021
1DNA (Deoxyribonucleic Acid)IBA
04/2017
1Genetic Markers (Genetic Marker)IBA
05/2016
1Proteins (Proteins, Gene)FDA Link
10/2011
1Lysosomal Membrane ProteinsIBA
10/2011