Výsledky vyhledávání - "de Kok, Yvette J. M."

Akademický článek

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

Autor: 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

Publikováno v: Journal of Medical Genetics; Jan2001, Vol. 38 Issue 1, p61-64, 4p, 1 Diagram, 3 Charts

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Akademický článek

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

Autor: 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.

Publikováno v: Human Molecular Genetics; Feb99, Vol. 8 Issue 2, p361, 6p

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Akademický článek

Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4.

Autor: 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.

Publikováno v: Human Molecular Genetics; Sep1996, Vol. 5 Issue 9, p1229-1235, 7p

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Akademický článek

Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene.

Autor: den Hollander, Anneke I., 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.

Publikováno v: American Journal of Human Genetics. Jul2001, Vol. 69 Issue 1, p198. 6p. 1 Color Photograph, 1 Diagram.

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Akademický článek

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

Autor: den Hollander AI; Department of Human Genetics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. a.denhollander@antrg.azn.nl, Ghiani M, de Kok YJ, Wijnholds J, Ballabio A, Cremers FP, Broccoli V

Publikováno v: Mechanisms of development [Mech Dev] 2002 Jan; Vol. 110 (1-2), pp. 203-7.

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