Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer
Spaanderman, Ide T, Peters, Fleur S, Jongejan, Aldo, Redeker, Egbert J. W, Punt, Cornelis J. A, Bins, Adriaan D
Published in PloS one (28.06.2021)
Published in PloS one (28.06.2021)
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K, Johansson, Lennart F, van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit
Published in BMC medical genomics (04.02.2016)
Published in BMC medical genomics (04.02.2016)
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
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Published in Familial cancer (01.04.2017)
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Leiden open variation database of the MUTYH gene
Out, Astrid A, Tops, Carli M.J, Nielsen, Maartje, Weiss, Marjan M, van Minderhout, Ivonne J.H.M, Fokkema, Ivo F.A.C, Buisine, Marie‐Pierre, Claes, Kathleen, Colas, Chrystelle, Fodde, Riccardo, Fostira, Florentia, Franken, Patrick F, Gaustadnes, Mette, Heinimann, Karl, Hodgson, Shirley V, Hogervorst, Frans B.L, Holinski‐Feder, Elke, Lagerstedt‐Robinson, Kristina, Olschwang, Sylviane, Ans M.W., van den Ouweland, Redeker, Egbert J.W, Scott, Rodney J, Vankeirsbilck, Bruno, Grønlund, Rikke Veggerby, Wijnen, Juul T, Wikman, Friedrik P, Aretz, Stefan, Sampson, Julian R, Devilee, Peter, den Dunnen, Johan T, Hes, Frederik J
Published in Human mutation (01.11.2010)
Published in Human mutation (01.11.2010)
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High rate of mosaicism in individuals with Cornelia de Lange syndrome
Huisman, Sylvia A, Redeker, Egbert J W, Maas, Saskia M, Mannens, Marcel M, Hennekam, Raoul C M
Published in Journal of medical genetics (01.05.2013)
Published in Journal of medical genetics (01.05.2013)
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Kempers, Marlies JE, MD, Kuiper, Roland P, PhD, Ockeloen, Charlotte W, MD, Chappuis, Pierre O, MD, Hutter, Pierre, PhD, Rahner, Nils, MD, Schackert, Hans K, Prof, Steinke, Verena, MD, Holinski-Feder, Elke, Prof, Morak, Monika, PhD, Kloor, Matthias, MD, Büttner, Reinhard, MD, Verwiel, Eugene TP, BSc, van Krieken, J Han, Prof, Nagtegaal, Iris D, MD, Goossens, Monique, BSc, van der Post, Rachel S, MD, Niessen, Renée C, PhD, Sijmons, Rolf H, MD, Kluijt, Irma, MD, Hogervorst, Frans BL, PhD, Leter, Edward M, MD, Gille, Johan JP, PhD, Aalfs, Cora M, MD, Redeker, Egbert JW, PhD, Hes, Frederik J, MD, Tops, Carli MJ, PhD, van Nesselrooij, Bernadette PM, MD, van Gijn, Marielle E, PhD, García, Encarna B Gómez, MD, Eccles, Diana M, Prof, Bunyan, David J, PhD, Syngal, Sapna, MD, Stoffel, Elena M, MD, Culver, Julie O, MSc, Palomares, Melanie R, MD, Graham, Tracy, MSc, Velsher, Lea, MD, Papp, Janos, PhD, Oláh, Edith, Prof, Chan, Tsun L, PhD, Leung, Suet Y, Prof, van Kessel, Ad Geurts, Prof, Kiemeney, Lambertus ALM, Prof, Hoogerbrugge, Nicoline, Prof, Ligtenberg, Marjolijn JL, Dr
Published in The lancet oncology (2011)
Published in The lancet oncology (2011)
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A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism
de Lange, Jan, MD, DMD, van Maarle, Merel C., MD, PhD, van den Akker, Hans P., DMD, PhD, Redeker, Egbert J.W., PhD
Published in Oral surgery, oral medicine, oral pathology, oral radiology and endodontics (01.03.2007)
Published in Oral surgery, oral medicine, oral pathology, oral radiology and endodontics (01.03.2007)
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Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair
Vrouwe, Mischa G., Elghalbzouri-Maghrani, Elhaam, Meijers, Matty, Schouten, Peter, Godthelp, Barbara C., Bhuiyan, Zahurul A., Redeker, Egbert J., Mannens, Marcel M., Mullenders, Leon H.F., Pastink, Albert, Darroudi, Firouz
Published in Human molecular genetics (15.06.2007)
Published in Human molecular genetics (15.06.2007)
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Targeted carrier screening for four recessive disorders: High detection rate within a founder population
Mathijssen, Inge B, Henneman, Lidewij, van Eeten-Nijman, Janneke M.C, Lakeman, Phillis, Ottenheim, Cecile P.E, Redeker, Egbert J.W, Ottenhof, Winnie, Meijers-Heijboer, Hanne, van Maarle, Merel C
Published in European journal of medical genetics (01.03.2015)
Published in European journal of medical genetics (01.03.2015)
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With expanded carrier screening, founder populations run the risk of being overlooked
Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Published in Journal of community genetics (01.10.2017)
Published in Journal of community genetics (01.10.2017)
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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up
Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien
Published in JIMD Reports, Volume 39 (01.01.2018)
Published in JIMD Reports, Volume 39 (01.01.2018)
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Cancer Risks for PMS2-Associated Lynch Syndrome
Ten Broeke, Sanne W, van der Klift, Heleen M, Tops, Carli M J, Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D, de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C, Haile, Robert, Hampel, Heather L, Hopper, John L, Hoogerbrugge, Nicoline, von Knebel Doeberitz, Magnus, Le Marchand, Loic, Letteboer, Tom G W, Jenkins, Mark A, Lindblom, Annika, Lindor, Noralane M, Mensenkamp, Arjen R, Møller, Pål, Newcomb, Polly A, van Os, Theo A M, Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J W, Olderode-Berends, Maran J W, Rosty, Christophe, Schackert, Hans K, Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J, Wagner, Anja, Winship, Ingrid, Hes, Frederik J, Vasen, Hans F A, Wijnen, Juul T, Nielsen, Maartje, Win, Aung Ko
Published in Journal of clinical oncology (10.10.2018)
Published in Journal of clinical oncology (10.10.2018)
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Two major components of synaptonemal complexes are specific for meiotic prophase nuclei
Heyting, C, Dettmers, R J, Dietrich, A J, Redeker, E J, Vink, A C
Published in Chromosoma (01.04.1988)
Published in Chromosoma (01.04.1988)
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HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY
Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J. Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S., Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn JL
Published in The lancet oncology (08.12.2010)
Published in The lancet oncology (08.12.2010)
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