Van Opstal D - Search Results

1

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: van opstal d. Hum Mutat. 2013 Sep;34(9):1298-303. doi: 10.1002/humu.22355. Epub 2013 Jun 6. Hum Mutat. 2013. PMID: 23674485

2

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: van den berg c. 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.

3

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. Among authors: van de graaf r, van opstal d. Prenat Diagn. 2008 Oct;28(10):967-70. doi: 10.1002/pd.2077. Prenat Diagn. 2008. PMID: 18821719 No abstract available.

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. 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: van opstal d. 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

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: van opstal d. Mol Cytogenet. 2011 Dec 2;4(1):27. doi: 10.1186/1755-8166-4-27. Mol Cytogenet. 2011. PMID: 22136596 Free PMC article.

7

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: van opstal d, van de laar im. Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14. Mol Cytogenet. 2012. PMID: 22413963 Free PMC article.

8

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. Among authors: van zutven lj, van opstal d. 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

9

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: van opstal d. 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.

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: van opstal d. 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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