Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4
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
Published in Science (American Association for the Advancement of Science) (03.02.1995)
Published in Science (American Association for the Advancement of Science) (03.02.1995)
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Isolation and Mapping of Novel Candidate Genes for Retinal Disorders Using Suppression Subtractive Hybridization
den Hollander, Anneke I., van Driel, Marc A., de Kok, Yvette J.M., van de Pol, Dorien J.R., Hoyng, Carel B., Brunner, Han G., Deutman, August F., Cremers, Frans P.M.
Published in Genomics (San Diego, Calif.) (15.06.1999)
Published in Genomics (San Diego, Calif.) (15.06.1999)
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A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
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
Published in Journal of medical genetics (01.01.2001)
Published in Journal of medical genetics (01.01.2001)
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Journal Article
A Pro51Ser Mutation in the COCH Gene is Associated With Late Onset Autosomal Dominant Progressive Sensorineural Hearing Loss With Vestibular Defects
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.
Published in Human molecular genetics (01.02.1999)
Published in Human molecular genetics (01.02.1999)
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Journal Article
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, 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.
Published in Human molecular genetics (01.09.1996)
Published in Human molecular genetics (01.09.1996)
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Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9
Bom, S J, Kemperman, M H, De Kok, Y J, Huygen, P L, Verhagen, W I, Cremers, F P, Cremers, C W
Published in The Laryngoscope (01.09.1999)
Published in The Laryngoscope (01.09.1999)
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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, Y J, Merkx, G F, van der Maarel, S M, Huber, I, Malcolm, S, Ropers, H H, Cremers, F P
Published in Human molecular genetics (01.11.1995)
Published in Human molecular genetics (01.11.1995)
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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
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.
Published in American journal of human genetics (01.07.2001)
Published in American journal of human genetics (01.07.2001)
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Journal Article
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, Y J, van der Maarel, S M, Ishikawa-Brush, Y, Monaco, A P, Robinson, D, Malcolm, S, Pembrey, M E, Brunner, H G
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila
DEN HOLLANDER, Anneke I, JOHNSON, Kevin, DE KOK, Yvette J. M, KLEBES, Ansgar, BRUNNER, Han G, KNUST, Elisabeth, CREMERS, Frans P. M
Published in Human molecular genetics (15.11.2001)
Published in Human molecular genetics (15.11.2001)
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Journal Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Cremers, Frans P.M, den Hollander, Anneke I, ten Brink, Jacoline B, de Kok, Yvette J.M, van Soest, Simone, van den Born, L. Ingeborgh, van Driel, Marc A, van de Pol, Dorien J.R, Payne, Annette M, Bhattacharya, Shomi S, Kellner, Ulrich, Hoyng, Carel B, Westerveld, Andries, Brunner, Han G, Bleeker-Wagemakers, Elisabeth M, Deutman, August F, Heckenlively, John R, Bergen, Arthur A.B
Published in Nature genetics (01.10.1999)
Published in Nature genetics (01.10.1999)
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Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
Bitner-Glindzicz, M, Turnpenny, P, Höglund, P, Kääriäinen, H, Sankila, E M, van der Maarel, S M, de Kok, Y J, Ropers, H H, Cremers, F P, Pembrey, M
Published in Human molecular genetics (01.08.1995)
Published in Human molecular genetics (01.08.1995)
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Journal Article
Tissue- and cell-specific distribution of creatine kinase B: a new and highly specific monoclonal antibody for use in immunohistochemistry
Sistermans, E A, de Kok, Y J, Peters, W, Ginsel, L A, Jap, P H, Wieringa, B
Published in Cell and tissue research (01.05.1995)
Published in Cell and tissue research (01.05.1995)
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Production of native creatine kinase B in insect cells using a baculovirus expression vector
de Kok, Y J, Geurds, M P, Sistermans, E A, Usmany, M, Vlak, J M, Wieringa, B
Published in Molecular and cellular biochemistry (09.02.1995)
Published in Molecular and cellular biochemistry (09.02.1995)
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Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation
van der Maarel, S M, Scholten, I H, Maat-Kievit, J A, Huber, I, de Kok, Y J, de Wijs, I, van de Pol, T J, van Bokhoven, H, den Dunnen, J T, van Ommen, G J
Published in European journal of human genetics : EJHG (1995)
Published in European journal of human genetics : EJHG (1995)
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