Galjaard RJ - Search Results

1

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.

2

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks.

Los FJ, van den Berg C, Van Opstal D, Noomen P, Braat AP, Galjaard RJ, Pijpers L, Cohen-Overbeek TE, Wildschut HI, Brandenburg H. Los FJ, et al. Among authors: galjaard rj. Prenat Diagn. 1998 Oct;18(10):1023-40. doi: 10.1002/(sici)1097-0223(1998100)18:10<1023::aid-pd402>3.0.co;2-1. Prenat Diagn. 1998. PMID: 9826894

3

Follow-up investigations in uncultured amniotic fluid cells after uncertain cytogenetic results.

Van Opstal D, van den Berg C, Galjaard RJ, Los FJ. Van Opstal D, et al. Among authors: galjaard rj. Prenat Diagn. 2001 Feb;21(2):75-80. doi: 10.1002/1097-0223(200102)21:2<75::aid-pd990>3.3.co;2-2. Prenat Diagn. 2001. PMID: 11241529

4

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples.

Van Opstal D, Boter M, de Jong D, van den Berg C, Brüggenwirth HT, Wildschut HI, de Klein A, Galjaard RJ. Van Opstal D, et al. Among authors: galjaard rj. Eur J Hum Genet. 2009 Jan;17(1):112-21. doi: 10.1038/ejhg.2008.161. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781187 Free PMC article.

5

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.

6

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.

7

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.

8

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.

9

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

10

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. Among authors: galjaard rj. 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.

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