Search Results - "Redeker, Egbert J. W"

Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer by Spaanderman, Ide T, Peters, Fleur S, Jongejan, Aldo, Redeker, Egbert J. W, Punt, Cornelis J. A, Bins, Adriaan D

“…Approximately 15% of Colon Cancers are Microsatellite Instable (MSI). Frameshift Peptides (FPs) formed in MSI Colon Cancer are potential targets for…”
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Microfluidic Amplification as a Tool for Massive Parallel Sequencing of the Familial Hypercholesterolemia Genes by HOLLANTS, Silke, REDEKER, Egbert J. W, MATTHIJS, Gert

“…Familial hypercholesterolemia (FH) is an autosomal dominant disorder that affects cholesterol metabolism and is an important risk factor for heart disease…”
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands by 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

“…Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes…”
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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly by 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

“…Clinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may…”
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Leiden open variation database of the MUTYH gene by 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

“…The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal…”
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High rate of mosaicism in individuals with Cornelia de Lange syndrome by Huisman, Sylvia A, Redeker, Egbert J W, Maas, Saskia M, Mannens, Marcel M, Hennekam, Raoul C M

“…Cornelia de Lange syndrome (CdLS) is a well known malformation syndrome for which five causative genes are known, accounting for ∼55-65% of cases. In this…”
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DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma by de Lange, Jan, van Maarle, Merel C, van den Akker, Hans P, Redeker, Egbert J.W

“…Abstract A mutation of the SH3BP2 gene is known to cause cherubism. As there are clinical and histopathological similarities between central giant cell…”
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study by 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

“…Summary Background Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6 , and PMS2 mismatch-repair genes and leads to a high risk of colorectal…”
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A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism by de Lange, Jan, MD, DMD, van Maarle, Merel C., MD, PhD, van den Akker, Hans P., DMD, PhD, Redeker, Egbert J.W., PhD

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Targeted carrier screening for four recessive disorders: High detection rate within a founder population by 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

“…Abstract In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar…”
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With expanded carrier screening, founder populations run the risk of being overlooked by Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne

“…Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these…”
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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up by Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien

“…We report the major diagnostic challenge in a female patient with signs and symptoms suggestive of an early-onset mitochondrial encephalopathy. Motor and…”
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Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders by Redeker, Egbert J W, de Visser, Annette S H, Bergen, Arthur A B, Mannens, Marcel M A M

“…Mutations in the PAX6 gene have been implicated in aniridia, a congenital malformation of the eye with severe hypoplasia of the iris. However, not all aniridia…”
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Cancer Risks for PMS2-Associated Lynch Syndrome by 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

“…Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial…”
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Two major components of synaptonemal complexes are specific for meiotic prophase nuclei by HEYTING, C, DETTMERS, R. J, DIETRICH, A. J. J, REDEKER, E. J. W, VINK, A. C. G

“…Monoclonal antibody II52F10 was elicited against purified synaptonemal complexes (SCs); it recognizes two major components of the lateral elements of SCs,…”
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HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY by 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

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