de Kok YJ - Search Results

1

Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain.

den Hollander AI, Ghiani M, de Kok YJ, Wijnholds J, Ballabio A, Cremers FP, Broccoli V. den Hollander AI, et al. Among authors: de kok yj. Mech Dev. 2002 Jan;110(1-2):203-7. doi: 10.1016/s0925-4773(01)00568-8. Mech Dev. 2002. PMID: 11744384 Free article.

2

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Among authors: de kok yj. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521

3

CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.

den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, Cremers FP. den Hollander AI, et al. Among authors: de kok yj. Hum Mol Genet. 2001 Nov 15;10(24):2767-73. doi: 10.1093/hmg/10.24.2767. Hum Mol Genet. 2001. PMID: 11734541

4

Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.

den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP. den Hollander AI, et al. Among authors: de kok yj. Genomics. 1999 Jun 15;58(3):240-9. doi: 10.1006/geno.1999.5823. Genomics. 1999. PMID: 10373321

5

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. den Hollander AI, et al. Among authors: de kok yj. Am J Hum Genet. 2001 Jul;69(1):198-203. doi: 10.1086/321263. Epub 2001 May 24. Am J Hum Genet. 2001. PMID: 11389483 Free PMC article.

6

The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.

de Kok YJ, Cremers CW, Ropers HH, Cremers FP. de Kok YJ, et al. Hum Mutat. 1997;10(3):207-11. doi: 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F. Hum Mutat. 1997. PMID: 9298820 Free article.

7

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.

de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP. de Kok YJ, et al. Hum Mol Genet. 1995 Nov;4(11):2145-50. doi: 10.1093/hmg/4.11.2145. Hum Mol Genet. 1995. PMID: 8589693

8

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.

de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. de Kok YJ, et al. Science. 1995 Feb 3;267(5198):685-8. doi: 10.1126/science.7839145. Science. 1995. PMID: 7839145 Free article.

9

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. de Kok YJ, et al. Hum Mol Genet. 1999 Feb;8(2):361-6. doi: 10.1093/hmg/8.2.361. Hum Mol Genet. 1999. PMID: 9931344

10

Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.

Bom SJ, Kemperman MH, De Kok YJ, Huygen PL, Verhagen WI, Cremers FP, Cremers CW. Bom SJ, et al. Among authors: de kok yj. Laryngoscope. 1999 Sep;109(9):1525-30. doi: 10.1097/00005537-199909000-00031. Laryngoscope. 1999. PMID: 10499067

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