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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Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
Collin, Rob WJ, den Hollander, Anneke I, van der Velde-Visser, Saskia D, Bennicelli, Jeannette, Bennett, Jean, Cremers, Frans PM
Published in Molecular therapy. Nucleic acids (01.03.2012)
Published in Molecular therapy. Nucleic acids (01.03.2012)
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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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Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia
Garanto, Alejandro, van der Velde-Visser, Saskia D, Cremers, Frans P M, Collin, Rob W J
Published in Advances in experimental medicine and biology (2018)
Published in Advances in experimental medicine and biology (2018)
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The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Runhart, Esmee H, Sangermano, Riccardo, Cornelis, Stéphanie S, Verheij, Joke B G M, Plomp, Astrid S, Boon, Camiel J F, Lugtenberg, Dorien, Roosing, Susanne, Bax, Nathalie M, Blokland, Ellen A W, Jacobs-Camps, Marlie H M, van der Velde-Visser, Saskia D, Pott, Jan-Willem R, Rohrschneider, Klaus, Thiadens, Alberta A H J, Klaver, Caroline C W, van den Born, L Ingeborgh, Hoyng, Carel B, Cremers, Frans P M
Published in Investigative ophthalmology & visual science (02.07.2018)
Published in Investigative ophthalmology & visual science (02.07.2018)
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Erosive Vitreoretinopathy and Wagner Disease Are Caused by Intronic Mutations in CSPG2/Versican That Result in an Imbalance of Splice Variants
Mukhopadhyay, Arijit, Nikopoulos, Konstantinos, Maugeri, Alessandra, de Brouwer, Arjan P. M, van Nouhuys, C. Eric, Boon, Camiel J. F, Perveen, Rahat, Zegers, Hester A. A, Wittebol-Post, Dienke, van den Biesen, Pieter R, van der Velde-Visser, Saskia D, Brunner, Han G, Black, Graeme C. M, Hoyng, Carel B, Cremers, Frans P. M
Published in Investigative ophthalmology & visual science (01.08.2006)
Published in Investigative ophthalmology & visual science (01.08.2006)
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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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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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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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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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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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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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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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