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Page 1
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD. Huijsdens-van Amsterdam K, et al. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899373 Free PMC article.
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.
Oepkes D, Page-Christiaens GC, Bax CJ, Bekker MN, Bilardo CM, Boon EM, Schuring-Blom GH, Coumans AB, Faas BH, Galjaard RH, Go AT, Henneman L, Macville MV, Pajkrt E, Suijkerbuijk RF, Huijsdens-van Amsterdam K, Van Opstal D, Verweij EJ, Weiss MM, Sistermans EA; and for the Dutch NIPT Consortium. Oepkes D, et al. Among authors: huijsdens van amsterdam k. Prenat Diagn. 2016 Dec;36(12):1083-1090. doi: 10.1002/pd.4945. Epub 2016 Nov 15. Prenat Diagn. 2016. PMID: 27750376 Free PMC article.
Response to letter to the editor PD-17-0390, a comment on "Comparing methods for fetal fraction determination and quality control of NIPT samples".
van Beek DM, Straver R, Weiss MM, Boon EMJ, Huijsdens-van Amsterdam K, Oudejans CBM, Reinders MJT, Sistermans EA. van Beek DM, et al. Among authors: huijsdens van amsterdam k. Prenat Diagn. 2017 Dec;37(12):1266-1267. doi: 10.1002/pd.5170. Prenat Diagn. 2017. PMID: 29271028 Free PMC article. No abstract available.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Van Opstal D, van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, Hoffer MJV, Huijsdens-van Amsterdam K, Macville MV, Kooper AJA, Faas BHW, Govaerts L, Tan-Sindhunata GM, den Hollander N, Feenstra I, Galjaard RH, Oepkes D, Ghesquiere S, Brouwer RWW, Beulen L, Bollen S, Elferink MG, Straver R, Henneman L, Page-Christiaens GC, Sistermans EA. Van Opstal D, et al. Among authors: huijsdens van amsterdam k. Genet Med. 2018 Apr;20(5):480-485. doi: 10.1038/gim.2017.132. Epub 2017 Sep 28. Genet Med. 2018. PMID: 29121006 Free PMC article.
Trisomy 4 mosaicism: Delineation of the phenotype.
Bouman A, van der Kevie-Kersemaekers AM, Huijsdens-van Amsterdam K, Dahhan N, Knegt L, Vansenne F, Cobben JM. Bouman A, et al. Among authors: huijsdens van amsterdam k. Am J Med Genet A. 2016 Apr;170A(4):1040-5. doi: 10.1002/ajmg.a.37522. Epub 2016 Jan 20. Am J Med Genet A. 2016. PMID: 26789019
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
de Groot-van der Mooren M, de Graaf G, Weijerman ME, Hoffer MJV, Knijnenburg J, van der Kevie-Kersemaekers AMF, Kooper AJA, Voorhoeve E, Sikkema-Raddatz B, van Zutven LJCM, Srebniak MI, Huijsdens-van Amsterdam K, Engelen JJM, Smeets D, van Kaam AH, Cornel MC. de Groot-van der Mooren M, et al. Among authors: huijsdens van amsterdam k. Prenat Diagn. 2021 Sep;41(10):1351-1359. doi: 10.1002/pd.6003. Epub 2021 Jul 1. Prenat Diagn. 2021. PMID: 34176145 Free PMC article.
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
Huijsdens-van Amsterdam K, Barge-Schaapveld DQ, Mathijssen IB, Alders M, Pajkrt E, Knegt AC. Huijsdens-van Amsterdam K, et al. Mol Cytogenet. 2012 Jan 27;5(1):8. doi: 10.1186/1755-8166-5-8. Mol Cytogenet. 2012. PMID: 22284936 Free PMC article.
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA, Westermann JM, de Vries TI, Ecury-Goossen GM, Lo-A-Njoe SM, Manshande ME, Faries S, Veenhuis HD, Philippi P, Falix FA, Rosina-Angelista I, Ponson-Wever M, Rafael-Croes L, Thorsen P, Arends E, de Vroomen M, Nagelkerke SQ, Tilanus M, van der Veken LT, Huijsdens-van Amsterdam K, van der Kevie-Kersemaekers AM, Alders M, Mannens MMAM, van Haelst MM. Verberne EA, et al. Among authors: huijsdens van amsterdam k. Am J Med Genet A. 2022 Jun;188(6):1777-1791. doi: 10.1002/ajmg.a.62708. Epub 2022 Mar 7. Am J Med Genet A. 2022. PMID: 35253369 Free PMC article.