de Kok YJ - Search Results

1

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

2

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

Huber I, Bitner-Glindzicz M, de Kok YJ, van der Maarel SM, Ishikawa-Brush Y, Monaco AP, Robinson D, Malcolm S, Pembrey ME, Brunner HG, et al. Huber I, et al. Among authors: de kok yj. Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151. Hum Mol Genet. 1994. PMID: 7981685

3

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, den Dunnen JT, Brunner HG, Ropers HH, Cremers FP. de Kok YJ, et al. Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229. Hum Mol Genet. 1996. PMID: 8872461

4

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.

5

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

6

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.

7

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

8

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

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

20 results

Search Page

Filters