Dijkhuizen T - Search Results

1

Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.

van Silfhout AT, van den Akker PC, Dijkhuizen T, Verheij JB, Olderode-Berends MJ, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout AT, et al. Among authors: dijkhuizen t. Eur J Hum Genet. 2009 Nov;17(11):1432-8. doi: 10.1038/ejhg.2009.72. Epub 2009 Apr 29. Eur J Hum Genet. 2009. PMID: 19401716 Free PMC article.

2

Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation.

Weterman MA, Wilbrink M, Dijkhuizen T, van den Berg E, Geurts van Kessel A. Weterman MA, et al. Among authors: dijkhuizen t. Hum Genet. 1996 Jul;98(1):16-21. doi: 10.1007/s004390050153. Hum Genet. 1996. PMID: 8682500 Free article.

3

Fine mapping of the human renal oncocytoma-associated translocation (5;11)(q35;q13) breakpoint.

Sinke RJ, Dijkhuizen T, Janssen B, Olde Weghuis D, Merkx G, van den Berg E, Schuuring E, Meloni AM, de Jong B, Geurts van Kessel A. Sinke RJ, et al. Among authors: dijkhuizen t. Cancer Genet Cytogenet. 1997 Jul 15;96(2):95-101. doi: 10.1016/s0165-4608(96)00250-6. Cancer Genet Cytogenet. 1997. PMID: 9216713 Free article.

4

Breakpoint mapping by FISH in a Sotos patient with a constitutional translocation t(3;6).

Kok K, Mosselaar A, Faber H, Dijkhuizen T, Draaijers TG, van der Veen AY, Buys CH, Schrander-Stumpel CT. Kok K, et al. Among authors: dijkhuizen t. J Med Genet. 1999 Apr;36(4):346-7. J Med Genet. 1999. PMID: 10227409 Free PMC article. No abstract available.

5

Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridization.

Tchinda J, Dijkhuizen T, Vlies Pv Pv, Kok K, Horst J. Tchinda J, et al. Among authors: dijkhuizen t. Br J Haematol. 2004 Aug;126(4):495-500. doi: 10.1111/j.1365-2141.2004.05082.x. Br J Haematol. 2004. PMID: 15287941 Free article.

6

A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.

Westra JL, Boven LG, van der Vlies P, Faber H, Sikkema B, Schaapveld M, Dijkhuizen T, Hollema H, Buys CH, Plukker JT, Kok K, Hofstra RM. Westra JL, et al. Among authors: dijkhuizen t. Genes Chromosomes Cancer. 2005 Jun;43(2):194-201. doi: 10.1002/gcc.20148. Genes Chromosomes Cancer. 2005. PMID: 15729700

7

Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

Kok K, Dijkhuizen T, Swart YE, Zorgdrager H, van der Vlies P, Fehrmann R, te Meerman GJ, Gerssen-Schoorl KB, van Essen T, Sikkema-Raddatz B, Buys CH. Kok K, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2005 Jul-Sep;48(3):250-62. doi: 10.1016/j.ejmg.2005.04.007. Eur J Med Genet. 2005. PMID: 16179221

8

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

Dijkhuizen T, van Essen T, van der Vlies P, Verheij JB, Sikkema-Raddatz B, van der Veen AY, Gerssen-Schoorl KB, Buys CH, Kok K. Dijkhuizen T, et al. Am J Med Genet A. 2006 Nov 15;140(22):2482-7. doi: 10.1002/ajmg.a.31487. Am J Med Genet A. 2006. PMID: 17036314

9

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. Among authors: dijkhuizen t. 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

10

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

van Silfhout A, Boot AM, Dijkhuizen T, Hoek A, Nijman R, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. van Silfhout A, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2009 Mar-Jun;52(2-3):157-60. doi: 10.1016/j.ejmg.2009.02.009. Epub 2009 Mar 6. Eur J Med Genet. 2009. PMID: 19269353

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