Knijnenburg J - Search Results

1

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.

Knijnenburg J, van Bever Y, Hulsman LO, van Kempen CA, Bolman GM, van Loon RL, Beverloo HB, van Zutven LJ. Knijnenburg J, et al. Eur J Hum Genet. 2012 Sep;20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7. Eur J Hum Genet. 2012. PMID: 22395867 Free PMC article.

2

Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.

Knijnenburg J, Uytdewilligen MEW, van Hassel DACM, Oostenbrink R, Eussen BHJ, de Klein A, Brooks AS, van Zutven LJCM. Knijnenburg J, et al. Eur J Med Genet. 2017 Sep;60(9):445-450. doi: 10.1016/j.ejmg.2017.06.003. Epub 2017 Jun 8. Eur J Med Genet. 2017. PMID: 28602932

3

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Kriek M, Szuhai K, Kant SG, White SJ, Dauwerse H, Fiegler H, Carter NP, Knijnenburg J, den Dunnen JT, Tanke HJ, Breuning MH, Rosenberg C. Kriek M, et al. Among authors: knijnenburg j. Hum Genet. 2006 Aug;120(1):77-84. doi: 10.1007/s00439-006-0185-2. Epub 2006 May 18. Hum Genet. 2006. PMID: 16708226

4

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

Kriek M, White SJ, Szuhai K, Knijnenburg J, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: knijnenburg j. Eur J Hum Genet. 2006 Feb;14(2):180-9. doi: 10.1038/sj.ejhg.5201540. Eur J Hum Genet. 2006. PMID: 16391556

5

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: knijnenburg j. 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.

6

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K. Knijnenburg J, et al. Eur J Hum Genet. 2007 May;15(5):548-55. doi: 10.1038/sj.ejhg.5201807. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342151

7

Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.

de Groot-van der Mooren M, de Graaf G, Weijerman ME, Hoffer MJV, Knijnenburg J, van der Kevie-Kersemaekers AMF, Kooper AJA, Voorhoeve E, Sikkema-Raddatz B, van Zutven LJCM, Srebniak MI, Huijsdens-van Amsterdam K, Engelen JJM, Smeets D, van Kaam AH, Cornel MC. de Groot-van der Mooren M, et al. Among authors: knijnenburg j. Prenat Diagn. 2021 Sep;41(10):1351-1359. doi: 10.1002/pd.6003. Epub 2021 Jul 1. Prenat Diagn. 2021. PMID: 34176145 Free PMC article.

8

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C. Hoffer MJ, et al. Among authors: knijnenburg j. Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. doi: 10.1016/j.ejmg.2006.11.004. Epub 2006 Dec 8. Eur J Med Genet. 2007. PMID: 17223398

9

The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.

Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, Boter M, Kromosoeto JNR, van Hassel DACM, Huijbregts G, van IJcken WFJ, Heydanus R, Dijkman A, Toolenaar T, de Vries FAT, Knijnenburg J, Go ATJI, Galjaard RH, Van Opstal D. Srebniak MI, et al. Among authors: knijnenburg j. Hum Mutat. 2017 Jul;38(7):880-888. doi: 10.1002/humu.23232. Epub 2017 May 30. Hum Mutat. 2017. PMID: 28409863

10

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

Rosenberg C, Knijnenburg J, Chauffaille Mde L, Brunoni D, Catelani AL, Sloos W, Szuhai K, Tanke HJ. Rosenberg C, et al. Among authors: knijnenburg j. Hum Genet. 2005 Apr;116(5):390-4. doi: 10.1007/s00439-004-1248-x. Epub 2005 Feb 22. Hum Genet. 2005. PMID: 15726417

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