Van Opstal D - Search Results

1

Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.

Brosens E, Marsch F, de Jong EM, Zaveri HP, Hilger AC, Choinitzki VG, Hölscher A, Hoffmann P, Herms S, Boemers TM, Ure BM, Lacher M, Ludwig M, Eussen BH, van der Helm RM, Douben H, Van Opstal D, Wijnen RM, Beverloo HB, van Bever Y, Brooks AS, IJsselstijn H, Scott DA, Schumacher J, Tibboel D, Reutter H, de Klein A. Brosens E, et al. Among authors: van der helm rm, van bever y, van opstal d. Eur J Hum Genet. 2016 Dec;24(12):1715-1723. doi: 10.1038/ejhg.2016.86. Epub 2016 Jul 20. Eur J Hum Genet. 2016. PMID: 27436264 Free PMC article.

2

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

Eussen BH, van de Laar I, Douben H, van Kempen L, Hochstenbach R, De Man SA, Van Opstal D, de Klein A, Poddighe PJ. Eussen BH, et al. Among authors: van de laar i, van kempen l, van opstal d. Eur J Med Genet. 2007 Mar-Apr;50(2):112-9. doi: 10.1016/j.ejmg.2006.10.006. Epub 2006 Nov 3. Eur J Med Genet. 2007. PMID: 17161033

3

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.

4

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review.

Van Zutven LJ, van Bever Y, Van Nieuwland CC, Huijbregts GC, Van Opstal D, von Bergh AR, Corel LJ, Tibboel D, Wouters CH, Poddighe PJ. Van Zutven LJ, et al. Among authors: van nieuwland cc, van bever y, van opstal d. Am J Med Genet A. 2009 Jul;149A(7):1468-75. doi: 10.1002/ajmg.a.32714. Am J Med Genet A. 2009. PMID: 19449434 Review.

5

The use of comparative genomic hybridization and fluorescent in situ hybridization in postmortem pathology investigation of congenital malformations.

Goemaere N, Douben H, Van Opstal D, Wouters C, Tibboel D, de Krijger R, de Klein A. Goemaere N, et al. Among authors: van opstal d. Pediatr Dev Pathol. 2010 Mar-Apr;13(2):85-94. doi: 10.2350/09-02-0612-OA.1. Pediatr Dev Pathol. 2010. PMID: 19594201

6

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.

7

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: van opstal d. 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.

8

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.

Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI. Diderich KEM, et al. Among authors: van slegtenhorst ma, van de laar imbh, van bever y, van opstal d. Acta Obstet Gynecol Scand. 2021 Jun;100(6):1106-1115. doi: 10.1111/aogs.14053. Epub 2020 Dec 28. Acta Obstet Gynecol Scand. 2021. PMID: 33249554 Free PMC article.

9

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.

10

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

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