Diderich KEM - Search Results

1

Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?

Van Opstal D, Diderich KEM, Joosten M, Govaerts LCP, Polak J, Boter M, Saris JJ, Cheung WY, van Veen S, van de Helm R, Go ATJI, Knapen MFCM, Papatsonis DNM, Dijkman A, de Vries F, Galjaard RH, Hoefsloot LH, Srebniak MI. Van Opstal D, et al. Among authors: diderich kem. Prenat Diagn. 2018 Nov;38(12):911-919. doi: 10.1002/pd.5354. Epub 2018 Sep 27. Prenat Diagn. 2018. PMID: 30187503 Free PMC article.

2

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.

3

Phenotypic variability of atypical 22q11.2 deletions not including TBX1.

Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW. Verhagen JM, et al. Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14. Am J Med Genet A. 2012. PMID: 22893440

4

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.

5

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.

6

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. Clin Genet. 2015 Jul;88(1):25-31. doi: 10.1111/cge.12479. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25134982

7

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis.

Srebniak MI, Van Opstal D, Joosten M, Diderich KE, de Vries FA, Riedijk S, Knapen MF, Go AT, Govaerts LC, Galjaard RJ. Srebniak MI, et al. Ultrasound Obstet Gynecol. 2015 Apr;45(4):363-72. doi: 10.1002/uog.14745. Ultrasound Obstet Gynecol. 2015. PMID: 25488734 Free article. No abstract available.

8

Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.

Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S, Joosten M, Diderich K, Galjaard RJ, Srebniak MI. Van Opstal D, et al. Hum Mutat. 2015 Mar;36(3):319-26. doi: 10.1002/humu.22742. Hum Mutat. 2015. PMID: 25504762

9

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

Srebniak MI, Govaerts LC, Diderich KE, Joosten M, de Vries FA, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Genet Med. 2016 Apr;18(4):307-8. doi: 10.1038/gim.2015.95. Epub 2015 Jul 9. Genet Med. 2016. PMID: 26158230 Free article. No abstract available.

10

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

Riedijk S, Diderich KE, van der Steen SL, Govaerts LC, Joosten M, Knapen MF, de Vries FA, van Opstal D, Tibben A, Galjaard RJ. Riedijk S, et al. J Clin Med. 2014 Jul 3;3(3):713-23. doi: 10.3390/jcm3030713. J Clin Med. 2014. PMID: 26237473 Free PMC article. Review.

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