Kok K - Search Results

1

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: kok k. 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.

2

Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

van Essen AJ, Kok K, van den Berg A, de Jong B, Stellink F, Bos AF, Scheffer H, Buys CH. van Essen AJ, et al. Among authors: kok k. Hum Genet. 1991 Jun;87(2):151-4. doi: 10.1007/BF00204171. Hum Genet. 1991. PMID: 2066102 Review.

3

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. J Med Genet. 1999 Apr;36(4):346-7. J Med Genet. 1999. PMID: 10227409 Free PMC article. No abstract available.

4

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: kok k. 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.

5

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: kok k. Genes Chromosomes Cancer. 2005 Jun;43(2):194-201. doi: 10.1002/gcc.20148. Genes Chromosomes Cancer. 2005. PMID: 15729700

6

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. 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

7

BCL6 alternative breakpoint region break and homozygous deletion of 17q24 in the nodular lymphocyte predominance type of Hodgkin's lymphoma-derived cell line DEV.

Atayar C, Kok K, Kluiver J, Bosga A, van den Berg E, van der Vlies P, Blokzijl T, Harms G, Davelaar I, Sikkema-Raddatz B, Martin-Subero JI, Siebert R, Poppema S, van den Berg A. Atayar C, et al. Among authors: kok k. Hum Pathol. 2006 Jun;37(6):675-83. doi: 10.1016/j.humpath.2006.01.018. Hum Pathol. 2006. PMID: 16733207

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. Among authors: kok k. 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

High-resolution mapping identifies a commonly amplified 11q13.3 region containing multiple genes flanked by segmental duplications.

Gibcus JH, Kok K, Menkema L, Hermsen MA, Mastik M, Kluin PM, van der Wal JE, Schuuring E. Gibcus JH, et al. Among authors: kok k. Hum Genet. 2007 Apr;121(2):187-201. doi: 10.1007/s00439-006-0299-6. Epub 2006 Dec 15. Hum Genet. 2007. PMID: 17171571

10

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. Maas NM, et al. Among authors: kok k. J Med Genet. 2008 Feb;45(2):71-80. doi: 10.1136/jmg.2007.052910. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873117

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