Galjaard RJ - Search Results

1

Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPT.

Srebniak MI, de Wit MC, Diderich KE, Govaerts LC, Joosten M, Knapen MF, Bos MJ, Looye-Bruinsma GA, Koningen M, Go AT, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Among authors: galjaard rj. Mol Cytogenet. 2016 Sep 7;9(1):69. doi: 10.1186/s13039-016-0279-z. eCollection 2016. Mol Cytogenet. 2016. PMID: 27610202 Free PMC article.

2

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect.

Srebniak MI, Boter M, Verboven-Peerden CM, Looye-Bruinsma GA, Oudesluijs G, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Among authors: galjaard rj. Mol Cytogenet. 2011 Dec 2;4(1):27. doi: 10.1186/1755-8166-4-27. Mol Cytogenet. 2011. PMID: 22136596 Free PMC article.

3

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. Among authors: galjaard rj. Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14. Mol Cytogenet. 2012. PMID: 22413963 Free PMC article.

4

Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis.

Van Opstal D, Boter M, Noomen P, Srebniak M, Hamers G, Galjaard RJ. Van Opstal D, et al. Among authors: galjaard rj. Mol Cytogenet. 2011 Jan 14;4:2. doi: 10.1186/1755-8166-4-2. Mol Cytogenet. 2011. PMID: 21235775 Free PMC article.

5

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. Among authors: galjaard rj. 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.

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. Among authors: galjaard rj. Hum Mutat. 2013 Sep;34(9):1298-303. doi: 10.1002/humu.22355. Epub 2013 Jun 6. Hum Mutat. 2013. PMID: 23674485

7

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. Among authors: galjaard rj. 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.

8

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. Among authors: galjaard rj. J Clin Med. 2014 Jul 3;3(3):713-23. doi: 10.3390/jcm3030713. J Clin Med. 2014. PMID: 26237473 Free PMC article. Review.

9

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

Srebniak MI, Diderich KE, Joosten M, Govaerts LC, Knijnenburg J, de Vries FA, Boter M, Lont D, Knapen MF, de Wit MC, Go AT, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Among authors: galjaard rj. Eur J Hum Genet. 2016 May;24(5):645-51. doi: 10.1038/ejhg.2015.193. Epub 2015 Sep 2. Eur J Hum Genet. 2016. PMID: 26328504 Free PMC article.

10

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.

Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ. Van Opstal D, et al. Among authors: galjaard rj. PLoS One. 2016 Jan 15;11(1):e0146794. doi: 10.1371/journal.pone.0146794. eCollection 2016. PLoS One. 2016. PMID: 26771677 Free PMC article. Review.

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