Srebniak MI - Search Results

1

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.

Heesterbeek CJ, Aukema SM, Galjaard RH, Boon EMJ, Srebniak MI, Bouman K, Faas BHW, Govaerts LCP, Hoffer MJV, den Hollander NS, Lichtenbelt KD, van Maarle MC, van Prooyen Schuurman L, van Rij MC, Schuring-Blom GH, Stevens SJC, Tan-Sindhunata G, Zamani Esteki M, de Die-Smulders CEM, Tjan-Heijnen VCG, Henneman L, Sistermans EA, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Among authors: srebniak mi. J Clin Oncol. 2022 Aug 1;40(22):2426-2435. doi: 10.1200/JCO.21.02260. Epub 2022 Apr 8. J Clin Oncol. 2022. PMID: 35394817

2

An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)--difficulties in interpretation.

Srebniak M, Noomen P, dos Santos P, Halley D, van de Graaf R, Govaerts L, Wouters C, Galjaard RJ, Van Opstal D. Srebniak M, et al. Prenat Diagn. 2008 Oct;28(10):967-70. doi: 10.1002/pd.2077. Prenat Diagn. 2008. PMID: 18821719 No abstract available.

3

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ. Srebniak M, et al. Eur J Hum Genet. 2011 Dec;19(12):1230-7. doi: 10.1038/ejhg.2011.119. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694736 Free PMC article.

4

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Srebniak MI, Boter M, Oudesluijs GO, Cohen-Overbeek T, Govaerts LC, Diderich KE, Oegema R, Knapen MF, van de Laar IM, Joosten M, Van Opstal D, Galjaard RJ. Srebniak MI, et al. Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14. Mol Cytogenet. 2012. PMID: 22413963 Free PMC article.

5

Another rare prenatal case of post-zygotic mosaic trisomy 17.

de Vries FA, Govaerts LC, Knijnenburg J, Knapen MF, Oudesluijs GG, Lont D, Noomen P, de Graaff K, Srebniak MI, Van Opstal D. de Vries FA, et al. Among authors: srebniak mi. Am J Med Genet A. 2013 May;161A(5):1196-9. doi: 10.1002/ajmg.a.35867. Epub 2013 Mar 20. Am J Med Genet A. 2013. PMID: 23512336 No abstract available.

6

0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice.

Srebniak MI, Mout L, Van Opstal D, Galjaard RJ. Srebniak MI, et al. Hum Mutat. 2013 Sep;34(9):1298-303. doi: 10.1002/humu.22355. Epub 2013 Jun 6. Hum Mutat. 2013. PMID: 23674485

7

Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature.

de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. de Wit MC, et al. Among authors: srebniak mi. Ultrasound Obstet Gynecol. 2014 Feb;43(2):139-46. doi: 10.1002/uog.12575. Ultrasound Obstet Gynecol. 2014. PMID: 23897843 Free article. Review.

8

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.

Srebniak MI, Diderich KE, Govaerts LC, Joosten M, Riedijk S, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Eur J Hum Genet. 2014 Jul;22(7):856-8. doi: 10.1038/ejhg.2013.254. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193341 Free PMC article. Review. No abstract available.

9

Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype.

Srebniak MI, Diderich KE, Noomen P, Dijkman A, de Vries FA, van Opstal D. Srebniak MI, et al. Ultrasound Obstet Gynecol. 2014 Jul;44(1):109-11. doi: 10.1002/uog.13334. Epub 2014 Jun 1. Ultrasound Obstet Gynecol. 2014. PMID: 24585494 Free article.

10

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.

van der Steen SL, Diderich KE, Riedijk SR, Verhagen-Visser J, Govaerts LC, Joosten M, Knapen MF, Van Opstal D, Srebniak MI, Tibben A, Galjaard RJ. van der Steen SL, et al. Among authors: srebniak mi. Clin Genet. 2015 Jul;88(1):25-31. doi: 10.1111/cge.12479. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25134982

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