de Klein A - Search Results

1

Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer.

Teles Alves I, Hartjes T, McClellan E, Hiltemann S, Böttcher R, Dits N, Temanni MR, Janssen B, van Workum W, van der Spek P, Stubbs A, de Klein A, Eussen B, Trapman J, Jenster G. Teles Alves I, et al. Among authors: de klein a. Oncogene. 2015 Jan 29;34(5):568-77. doi: 10.1038/onc.2013.591. Epub 2014 Feb 3. Oncogene. 2015. PMID: 24488012

2

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed MA, van Veghel-Plandsoen M, Maat-Kievit A, Lindhout D, Eussen BH, de Klein A, Halley DJ, van den Ouweland AM. Nellist M, et al. Among authors: de klein a. Genet Test. 2005 Fall;9(3):226-30. doi: 10.1089/gte.2005.9.226. Genet Test. 2005. PMID: 16225402

3

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: de man sa, de klein a. 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

4

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

Lodder EM, Eussen BH, van Hassel DA, Hoogeboom AJ, Poddighe PJ, Coert JH, Oostra BA, de Klein A, de Graaff E. Lodder EM, et al. Among authors: de graaff e, de klein a. Chromosome Res. 2009;17(6):737-44. doi: 10.1007/s10577-009-9059-5. Epub 2009 Aug 12. Chromosome Res. 2009. PMID: 19672683 Free PMC article.

5

5q11.2 deletion in a patient with tracheal agenesis.

de Jong EM, Douben H, Eussen BH, Felix JF, Wessels MW, Poddighe PJ, Nikkels PG, de Krijger RR, Tibboel D, de Klein A. de Jong EM, et al. Among authors: de klein a, de krijger rr. Eur J Hum Genet. 2010 Nov;18(11):1265-8. doi: 10.1038/ejhg.2010.84. Epub 2010 Jun 16. Eur J Hum Genet. 2010. PMID: 20551993 Free PMC article.

6

Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, Wessels MW, Mancini GM. Oegema R, et al. Among authors: de coo if, de wit mc, de klein a. Mol Syndromol. 2010 Sep;1(3):113-120. doi: 10.1159/000320113. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031080 Free PMC article.

7

Overexpression of full-length ETV1 transcripts in clinical prostate cancer due to gene translocation.

Gasi D, van der Korput HA, Douben HC, de Klein A, de Ridder CM, van Weerden WM, Trapman J. Gasi D, et al. Among authors: de klein a, de ridder cm. PLoS One. 2011 Jan 26;6(1):e16332. doi: 10.1371/journal.pone.0016332. PLoS One. 2011. PMID: 21298110 Free PMC article.

8

Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.

Florisson JM, Mathijssen IM, Dumee B, Hoogeboom JA, Poddighe PJ, Oostra BA, Frijns JP, Koster L, de Klein A, Eussen B, de Vries BB, Swagemakers S, van der Spek PJ, Verkerk AJ. Florisson JM, et al. Among authors: de klein a, de vries bb. Am J Med Genet A. 2013 Feb;161A(2):244-53. doi: 10.1002/ajmg.a.35632. Epub 2013 Jan 9. Am J Med Genet A. 2013. PMID: 23303641

9

Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases.

Yavuzyigitoglu S, Koopmans AE, Verdijk RM, Vaarwater J, Eussen B, van Bodegom A, Paridaens D, Kiliç E, de Klein A; Rotterdam Ocular Melanoma Study Group. Yavuzyigitoglu S, et al. Among authors: de klein a. Ophthalmology. 2016 May;123(5):1118-28. doi: 10.1016/j.ophtha.2016.01.023. Epub 2016 Feb 26. Ophthalmology. 2016. PMID: 26923342

10

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: de klein a. 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

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