van Zutven LJCM - Search Results

1

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. Among authors: van zutven ljcm. 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

2

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. 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.

3

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.

4

Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.

Oegema R, van Zutven LJ, van Hassel DA, Huijbregts GC, Hoogeboom AJ. Oegema R, et al. Eur J Med Genet. 2012 Apr;55(4):265-8. doi: 10.1016/j.ejmg.2012.01.015. Epub 2012 Feb 21. Eur J Med Genet. 2012. PMID: 22406089

5

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. 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

6

Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion.

Verhoeven WM, Egger JI, Goffin L, van Zutven LJ, Mancini GM. Verhoeven WM, et al. Eur J Med Genet. 2013 Jun;56(6):331-5. doi: 10.1016/j.ejmg.2013.03.012. Epub 2013 Mar 29. Eur J Med Genet. 2013. PMID: 23542664

7

Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability.

van Zutven LJCM, Mancini GMS, Bindels-de Heus KGCB, van den Akker ELT, Hulsman LOM, Smit M, Berna Beverloo H. van Zutven LJCM, et al. Am J Med Genet A. 2018 Feb;176(2):492-495. doi: 10.1002/ajmg.a.38553. Epub 2017 Dec 11. Am J Med Genet A. 2018. PMID: 29226581 No abstract available.

8

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: van zutven ljcm. 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.

9

Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene.

van Zutven LJ, Onen E, Velthuizen SC, van Drunen E, von Bergh AR, van den Heuvel-Eibrink MM, Veronese A, Mecucci C, Negrini M, de Greef GE, Beverloo HB. van Zutven LJ, et al. Genes Chromosomes Cancer. 2006 May;45(5):437-46. doi: 10.1002/gcc.20308. Genes Chromosomes Cancer. 2006. PMID: 16419055

10

High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9.

von Bergh AR, van Drunen E, van Wering ER, van Zutven LJ, Hainmann I, Lönnerholm G, Meijerink JP, Pieters R, Beverloo HB. von Bergh AR, et al. Genes Chromosomes Cancer. 2006 Aug;45(8):731-9. doi: 10.1002/gcc.20335. Genes Chromosomes Cancer. 2006. PMID: 16646086

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