Sikkema-Raddatz B - Search Results

1

Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.

Alimohamed MZ, Johansson LF, Posafalvi A, Boven LG, van Dijk KK, Walters L, Vos YJ, Westers H, Hoedemaekers YM, Sinke RJ, Sijmons RH, Sikkema-Raddatz B, Jongbloed JDH, van der Zwaag PA. Alimohamed MZ, et al. Int J Cardiol. 2021 Jun 1;332:99-104. doi: 10.1016/j.ijcard.2021.02.069. Epub 2021 Mar 1. Int J Cardiol. 2021. PMID: 33662488 Free article.

2

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case.

Sikkema-Raddatz B, Sijmons RH, Tan-Sindhunata MB, van der Veen AY, Brunsting R, de Vries B, Beekhuis JR, Bekedam DJ, van Aken B, de Jong B. Sikkema-Raddatz B, et al. Prenat Diagn. 1995 May;15(5):467-73. doi: 10.1002/pd.1970150510. Prenat Diagn. 1995. PMID: 7644437

3

46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue.

Sijmons RH, Sikkema-Raddatz B, Kloosterman MD, Briet JW, De Jong B, Leschot NJ. Sijmons RH, et al. Prenat Diagn. 1995 Mar;15(3):285-90. doi: 10.1002/pd.1970150314. Prenat Diagn. 1995. PMID: 7784389

4

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM. Rump P, et al. Clin Genet. 2008 Nov;74(5):455-62. doi: 10.1111/j.1399-0004.2008.01064.x. Epub 2008 Jul 21. Clin Genet. 2008. PMID: 18651844

5

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Rump P, Jongbloed JD, Sikkema-Raddatz B, Mundlos S, Klopocki E, van der Luijt RB. Rump P, et al. Am J Med Genet A. 2011 Oct;155A(10):2566-70. doi: 10.1002/ajmg.a.34218. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910239

6

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.

7

The use of arrays to detect copy-number variations in clinical practice.

Sikkema-Raddatz B, Sijmons RH. Sikkema-Raddatz B, et al. Hum Mutat. 2012 Jun;33(6):905. doi: 10.1002/humu.22084. Hum Mutat. 2012. PMID: 22570302 Free article. No abstract available.

8

Successful noninvasive trisomy 18 detection using single molecule sequencing.

van den Oever JM, Balkassmi S, Johansson LF, Adama van Scheltema PN, Suijkerbuijk RF, Hoffer MJ, Sinke RJ, Bakker E, Sikkema-Raddatz B, Boon EM. van den Oever JM, et al. Clin Chem. 2013 Apr;59(4):705-9. doi: 10.1373/clinchem.2012.196212. Epub 2013 Jan 11. Clin Chem. 2013. PMID: 23315481 Free article.

9

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ. Sikkema-Raddatz B, et al. Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23568810

10

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

de Koning TJ, Jongbloed JD, Sikkema-Raddatz B, Sinke RJ. de Koning TJ, et al. Expert Rev Mol Diagn. 2015 Jan;15(1):61-70. doi: 10.1586/14737159.2015.976555. Epub 2014 Nov 4. Expert Rev Mol Diagn. 2015. PMID: 25367078

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