Dijkhuizen T - Search Results

1

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Feenstra I, et al. Among authors: dijkhuizen t. Eur J Hum Genet. 2011 Nov;19(11):1152-60. doi: 10.1038/ejhg.2011.120. Epub 2011 Jun 29. Eur J Hum Genet. 2011. PMID: 21712853 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

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

4

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

5

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

6

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

7

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. Raas-Rothschild A, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Eur J Med Genet. 2009. PMID: 19328248 Review.

8

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM. Doornbos M, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27. Eur J Med Genet. 2009. PMID: 19328872

9

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.

10

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts CM. Hanemaaijer N, et al. Among authors: dijkhuizen t. Eur J Med Genet. 2009 Mar-Jun;52(2-3):116-9. doi: 10.1016/j.ejmg.2009.01.005. Eur J Med Genet. 2009. PMID: 19452620 Review.

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