Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool
Simon, A, Cuisset, L, Vincent, M F, van Der Velde-Visser, S D, Delpech, M, van Der Meer, J W, Drenth, J P
Published in Annals of internal medicine (04.09.2001)
Published in Annals of internal medicine (04.09.2001)
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Microdeletions in patients with Gusher-associated, X-linked mixed deafness (DFN3)
BACH, I, BRUNNER, H. G, ROPERS, H.-H, BEIGHTON, P, RUVALCABA, R. H. A, REARDON, W, PEMBREY, M. E, VAN DER VELDE-VISSER, S. D, BRUNS, G. A. P, CREMERS, C. W. R. J, CREMERS, F. P. M
Published in American journal of human genetics (01.07.1992)
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Published in American journal of human genetics (01.07.1992)
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Cisplatin- and carboplatin-DNA adducts: is PT-AG the cytotoxic lesion?
Fichtinger-Schepman, A M, van Dijk-Knijnenburg, H C, van der Velde-Visser, S D, Berends, F, Baan, R A
Published in Carcinogenesis (New York) (01.10.1995)
Published in Carcinogenesis (New York) (01.10.1995)
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Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome
Berger, W, Meindl, A, de Leeuw, B, de Roos, A, van de Pol, T J, Meitinger, T, van der Velde-Visser, S D, Achatz, H, Geurts van Kessel, A, Cremers, F P
Published in Human genetics (01.11.1992)
Published in Human genetics (01.11.1992)
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Kinetics of the formation and removal of cisplatin-DNA adducts in blood cells and tumor tissue of cancer patients receiving chemotherapy : comparison with in vitro adduct formation
FICHTINGER-SCHEPMAN, A. M. J, VAN DER VELDE-VISSER, S. D, VAN DIJK-KNIJNENBURG, H. C. M, VAN OOSTEROM, A. T, BAAN, R. A, BERENDS, F
Published in Cancer research (Chicago, Ill.) (15.12.1990)
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Published in Cancer research (Chicago, Ill.) (15.12.1990)
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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
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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Platinum concentrations and DNA adduct levels in tumors and organs of cisplatin-treated LOU/M rats inoculated with cisplatin-sensitive or -resistant immunoglobulin M immunocytoma
FICHTINGER-SCHEPMAN, A. M. J, VENDRIK, C. P. J, SCHORNAGEL, J. H, BERENDS, F, VAN DIJK-KNIJNENBURG, W. C. M, DE JONG, W. H, VAN DER MINNEN, A. C. E, CLAESSEN, A. M. E, VAN DER VELDE-VISSER, S. D, DE GROOT, G, WUBS, K. L, STEERENBERG, P. A
Published in Cancer research (Chicago, Ill.) (01.06.1989)
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Published in Cancer research (Chicago, Ill.) (01.06.1989)
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Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)
van Lith-Verhoeven, J.J.C., van der Velde-Visser, S.D., Sohocki, M.M., Deutman, A.F., Brink, H.M.A., Cremers, F.P.M., Hoyng, C.B.
Published in Ophthalmic genetics (2002)
Published in Ophthalmic genetics (2002)
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A High-Resolution Interval Map of the q21 Region of the Human X Chromosome
Philippe, Christophe, Arnould, Cécile, Sloan, Frédérique, van Bokhoven, Hans, van der Velde-Visser, Saskia D., Chery, Michèle, Ropers, H.Hilger, Gilgenkrantz, Simone, Monaco, Anthony P., Cremers, Frans P.M.
Published in Genomics (San Diego, Calif.) (10.06.1995)
Published in Genomics (San Diego, Calif.) (10.06.1995)
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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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CRB1 mutation spectrum in inherited retinal dystrophies
den Hollander, Anneke I., Davis, Jason, van der Velde-Visser, Saskia D., Zonneveld, Marijke N., Pierrottet, Chiara O., Koenekoop, Robert K., Kellner, Ulrich, van den Born, L. Ingeborgh, Heckenlively, John R., Hoyng, Carel B., Handford, Penny A., Roepman, Ronald, Cremers, Frans P.M.
Published in Human mutation (01.11.2004)
Published in Human mutation (01.11.2004)
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Effects of thiourea and ammonium bicarbonate on the formation and stability of bifunctional cisplatin-DNA adducts: Consequences for the accurate quantification of adducts in (cellular) DNA
Fichtinger-Schepman, Anne Marie J., van Dijk-Knijnenburg, Helma C.M., Dijt, Fransje J., van der Velde-Visser, Saskia D., Berends, Frits, Baan, Robert A.
Published in Journal of inorganic biochemistry (15.05.1995)
Published in Journal of inorganic biochemistry (15.05.1995)
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Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group
Drenth, J P, Mariman, E C, Van der Velde-Visser, S D, Ropers, H H, Van der Meer, J W
Published in Human genetics (01.12.1994)
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Published in Human genetics (01.12.1994)
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