Search Results - "de Kok, Yvette J. M."

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4 by Yvette J. M. de Kok, van der Maarel, Silvère M., Bitner-Glindzicz, Maria, Huber, Irene, Monaco, Anthony P., Malcolm, Susan, Pembrey, Marcus E., Ropers, Hans-Hilger, Frans P. M. Cremers

“…Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase…”
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene by Hollander, Anneke I. den, Heckenlively, John R., van den Born, L. Ingeborgh, de Kok, Yvette J.M., van der Velde-Visser, Saskia D., Kellner, Ulrich, Jurklies, Bernhard, van Schooneveld, Mary J., Blankenagel, Anita, Rohrschneider, Klaus, Wissinger, Bernd, Cruysberg, Johan R.M., Deutman, August F., Brunner, Han G., Apfelstedt-Sylla, Eckart, Hoyng, Carel B., Cremers, Frans P.M.

“…Mutations in the crumbs homologue 1 ( CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a…”
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A Pro51Ser Mutation in the COCH Gene is Associated With Late Onset Autosomal Dominant Progressive Sensorineural Hearing Loss With Vestibular Defects by de Kok, Yvette J. M., Bom, Steven J. H., Brunt, Tibor M., Kemperman, Martijn H., van Beusekom, Ellen, van der Velde-Visser, Saskia D., Robertson, Nahid G., Morton, Cynthia C., Huygen, Patrick L. M., Verhagen, Wim I. M., Brunner, Han G., Cremers, Cor W. R. J., Cremers, Frans P. M.

“…We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying gene defect by genetic…”
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CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila by DEN HOLLANDER, Anneke I, JOHNSON, Kevin, DE KOK, Yvette J. M, KLEBES, Ansgar, BRUNNER, Han G, KNUST, Elisabeth, CREMERS, Frans P. M

“…Mutations in the human Crumbs homologue 1 (CRB1) gene cause severe retinal dystrophies, ranging from retinitis pigmentosa to Leber congenital amaurosis. The…”
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Tissue- and cell-specific distribution of creatine kinase B: a new and highly specific monoclonal antibody for use in immunohistochemistry by Sistermans, E A, de Kok, Y J, Peters, W, Ginsel, L A, Jap, P H, Wieringa, B

“…A synthetic 17-mer peptide corresponding to an unique sequence in the amino-terminal region of human creatine kinase B was used to raise a new and highly…”
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A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation by FRANSEN, ERIK, VERSTREKEN, MARGRIET, BOM, STEVEN J H, LEMAIRE, FRANÇOIS, KEMPERMAN, MARTIJN H, DE KOK, YVETTE J M, WUYTS, FLORIS L, VERHAGEN, WIM I M, HUYGEN, PATRICK L M, MCGUIRT, WYMAN T, SMITH, RICHARD J H, VAN MALDERGEM, LIONEL, DECLAU, FRANK, CREMERS, COR W R J, VAN DE HEYNING, PAUL H, CREMERS, FRANS P M, VAN CAMP, GUY

“…[...]it is commonly known that many hearing impaired people also suffer from balance problems. [...]it is now recognised that many syndromes with genetic…”
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Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4 by de Kok, Yvette J. M., Vossenaar, Erik R., Cremers, Cor W. R. J., Dahl, Niklas, Laporte, Jocelyn, Jia Hu, Ling, Lacombe, Didier, Fischel-Ghodsian, Nathan, Friedman, Rick A., Parnes, Lorne S., Thorpe, Peter, Bitner-Glindzicz, Maria, Pander, Hans-Jürgen, Heilbronner, Helmut, Graveline, Johanna, den Dunnen, Johan T., Brunner, Han G., Ropers, Hans-Hilger, Cremers, Frans P. M.

“…Small mutations in the POU domain gene POU3F4 were recently shown to cause X-linked deafness type 3 (DFN3) in nine unrelated males. The POU3F4 gene was found…”
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Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain by den Hollander, Anneke I., Ghiani, Michela, de Kok, Yvette J.M., Wijnholds, Jan, Ballabio, Andrea, Cremers, Frans P.M., Broccoli, Vania

“…Mutations in the human Crumbs homologue 1 ( CRB1) gene cause severe retinal dystrophies. CRB1 is homologous to Drosophila Crumbs, a protein essential for…”
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The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation by Kok, Yvette J. M. de, Cremers, Cor W. R. J., Ropers, Hans-Hilger, Cremers, Frans P. M.

“…We have investigated two unrelated males with X‐linked deafness type 3 (DFN3) for mutations in the POU3F4 gene. In one patient, we observed a mutation that is…”
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The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for aPOU3F4 missense mutation by Kok, Yvette J. M. de, Cremers, Cor W. R. J., Ropers, Hans-Hilger, Cremers, Frans P. M.

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Production of native creatine kinase B in insect cells using a baculovirus expression vector by de Kok, Y J, Geurds, M P, Sistermans, E A, Usmany, M, Vlak, J M, Wieringa, B

“…A full-length human creatine kinase B (B-CK) cDNA was used to produce a recombinant baculovirus (AcDZ1-BCK). Sf9 cells infected with this recombinant expressed…”
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