Zobrazeno 1 - 10 of 32 pro vyhledávání: '"Egbert J.W. Redeker"'
1
Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway
Autor: Irsa Rosina-Angelista, Ginette M. Ecury-Goossen, Karolien Van De Maele, Charlotte A. Smulders, Mieke M. van Haelst, Egbert J.W. Redeker
Publikováno v: Clinical Dysmorphology, 28(2), 57-62. Lippincott Williams and Wilkins
van de Maele, K, Smulders, C, Ecury-Goossen, G, Rosina-Angelista, I, Redeker, E & van Haelst, M 2019, ' Stuve-Wiedemann syndrome : Recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway ', Clinical Dysmorphology, vol. 28, no. 2, pp. 57-62 . https://doi.org/10.1097/MCD.0000000000000255
Clinical dysmorphology, 28(2), 57-62. Lippincott Williams and Wilkins
Stüve-Wiedemann syndrome (OMIM #601559) is a rare, autosomal recessive disorder characterized by skeletal dysplasia, consecutive infections, feeding difficulties and autonomic dysregulation. We present an Afro-Caribbean family with two siblings diag
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::511533a1d761090aff5a2aefc3ef548c
https://doi.org/10.1097/mcd.0000000000000255
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2
Diagnosis and management of Cornelia de Lange syndrome
Autor: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
Publikováno v: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by v
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0818aeb6ab78c437f75857d687f3a286
https://doi.org/10.1038/s41576-018-0031-0
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3
Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer
Autor: Adriaan D. Bins, Aldo Jongejan, Fleur S. Peters, Cornelis J. A. Punt, Ide T. Spaanderman, Egbert J.W. Redeker
Publikováno v: PLoS ONE
PLoS ONE, 16(6 June 2021):e0251630. Public Library of Science
PLoS ONE, Vol 16, Iss 6, p e0251630 (2021)
Approximately 15% of Colon Cancers are Microsatellite Instable (MSI). Frameshift Peptides (FPs) formed in MSI Colon Cancer are potential targets for immunotherapeutic strategies. Here we comprehensively characterize the mutational landscape of 71 MSI
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4172a6beb935faea19a9750ea81ba44e
https://doi.org/10.1371/journal.pone.0251630
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4
Phenotypes and genotypes in individuals with SMC1A variants
Autor: Egbert J.W. Redeker, Annemiek Landlust, Mariet W. Elting, Jo Moss, Yvonne Hilhorst-Hofstee, Juan Pié, Saskia M. J. Hopman, Rieneke Vorstenbosch, Ingrid D. C. van Balkom, Angelo Selicorni, Anne Marie Bisgaard, Sandra Jansen, Chris Oliver, Caroline Michot, Sylvia A. Huisman, Maninder Kaur, Ilaria Parenti, Katta M. Girisha, Zeynep Tümer, Ingrid Bader, Matthew A. Deardorff, Claudine Rieubland, Davor Lessel, Sigrid Piening, Mala Isrie, Denise Horn, Paul A. Mulder, Constanza Cinca, Tara L. Wenger, Cathrine Jespersgaard, Jolanta Wierzba, Karin E. M. Diderich, Phillis Lakeman, Cristina Gervasini, Gabriele Gillessen-Kaesbach, Anthonie J. van Essen, Alice S. Brooks, Raoul C.M. Hennekam, Frank J. Kaiser, Ian D. Krantz, Feliciano J. Ramos, Tjitske Kleefstra, David R. FitzPatrick, Sarah E. Noon, Anna Cereda, Silvia Russo, Dinah Clark, Valérie Cormier-Daire
Publikováno v: American Journal of Medical Genetics Part A, 173(8), 2108-2125
American Journal of Medical Genetics, Part A, 173(8), 2108-2125. Wiley-Liss Inc.
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
American Journal of Medical Genetics Part A, 173(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 2108-2125
Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279
American journal of medical genetics. Part A, 173A(8), 2108-2125. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125
Item does not contain fulltext SMC1A encodes one of the proteins of the cohesin complex. SMC1A variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing SMC1A variants in individual
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052e3e400550993f8afb8d8d666e286a
http://hdl.handle.net/1887/94919
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5
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Autor: Rob B. van der Luijt, Annette C. Moll, Carli M. J. Tops, Christine E. M. de Die-Smulders, Frans B. L. Hogervorst, Marianne A. Jonker, Egbert J.W. Redeker, Hanne Meijers-Heijboer, Arjen R. Mensenkamp, Charlotte J. Dommering, Ans M.W. van den Ouweland, Annemarie H. van der Hout, Lidewij Henneman
Publikováno v: Familial Cancer, 16(2), 271-277
Familial Cancer, 16(2), 271-277. Springer Netherlands
Familial Cancer, 16, 271-277
Familial Cancer, 16(2), 271-277. Springer, Cham
Familial cancer, 16(2), 271-277. Springer Netherlands
Familial Cancer
Familial Cancer, 16(2), 271-277. SPRINGER
Familial Cancer, 16(2), 271. Springer Netherlands
Dommering, C J, Henneman, L, van der Hout, A H, Jonker, M A, Tops, C M J, van den Ouweland, A M W, Van Der Luijt, R B, Mensenkamp, A R, Hogervorst, F B L, Redeker, E J W, de Die-Smulders, C E M, Moll, A C & Meijers-Heijboer, H 2017, ' Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands ', Familial Cancer, vol. 16, no. 2, pp. 271-277 . https://doi.org/10.1007/s10689-016-9943-z
Familial Cancer, 16, 2, pp. 271-277
Contains fulltext : 174694.pdf (Publisher’s version ) (Open Access) 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 may opt for prenatal d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcec1223f0973450df7472e9ca3c6681
http://hdl.handle.net/1887/116003
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6
With expanded carrier screening, founder populations run the risk of being overlooked
Autor: Inge B. Mathijssen, Leo P. ten Kate, Iris I.M. Kleiss, Merel C. van Maarle, Lidewij Henneman, Egbert J.W. Redeker, Hanne Meijers-Heijboer
Publikováno v: Journal of community genetics, 8(4), 327-333. Springer Verlag
Mathijssen, I B, van Maarle, M C, Kleiss, I I M, Redeker, E J W, ten Kate, L P, Henneman, L & Meijers-Heijboer, H 2017, ' With expanded carrier screening, founder populations run the risk of being overlooked ', Journal of Community Genetics, vol. 8, no. 4, pp. 327-333 . https://doi.org/10.1007/s12687-017-0309-5
Journal of Community Genetics
Journal of Community Genetics, 8(4), 327-333. Springer Verlag
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal rece
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acab189e7af2e163da80aadfef35d571
https://pure.amc.nl/en/publications/with-expanded-carrier-screening-founder-populations-run-the-risk-of-being-overlooked(9ed932e6-a5d6-41cb-8d1a-46f2b3909890).html
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7
High rate of mosaicism in individuals with Cornelia de Lange syndrome
Autor: Raoul C.M. Hennekam, Sylvia A. Huisman, Marcel M.A.M. Mannens, Saskia M. Maas, Egbert J.W. Redeker
Publikováno v: Journal of medical genetics, 50(5), 339-344. BMJ Publishing Group
Background 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 study, we hypothesised that mosaicism might explain some of the ∼35–45% of c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f3223eee0c51ee399ab9bf104be3f0
https://doi.org/10.1136/jmedgenet-2012-101477
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8
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
Autor: Richard J. Sinke, Egbert J.W. Redeker, Anthonie J. van Essen, Patrick Rump, Lennart Johansson, Omid Jazayeri, Krista K. van Dijk-Bos, Behrooz Z. Alizadeh, Birgit Sikkema-Raddatz, Marcel M.A.M. Mannens, Conny M. A. van Ravenswaaij-Arts, Hermine E. Veenstra-Knol, Johanna B. G. M. Verheij, Morris A. Swertz
Publikováno v: BMC medical genomics, 9(1). BioMed Central
BMC Medical Genomics, 9(1):7. BioMed Central Ltd.
BMC Medical Genomics
Background Clinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may aid in identifying a specific cause in some cases, the majority of patients rema
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e48b97c725e36ab85108e461470a806
https://research.rug.nl/en/publications/18f19b8c-aa4f-405c-8d23-c875792263e6
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9
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Autor: Tsun Leung Chan, Eugène T P Verwiel, Irma Kluijt, Diana Eccles, Rolf H. Sijmons, Egbert J.W. Redeker, Rachel S. van der Post, Encarna B. Gomez Garcia, Reinhard Büttner, Cora M. Aalfs, Roland P. Kuiper, Johan J.P. Gille, Bernadette P M van Nesselrooij, Frans B. L. Hogervorst, Marjolijn J L Ligtenberg, Tracy Graham, Julie O. Culver, Edith Olah, Monique Goossens, Carli M. J. Tops, Elke Holinski-Feder, David J. Bunyan, Marielle E. van Gijn, Frederik J. Hes, Suet Yi Leung, Pierre O. Chappuis, Monika Morak, Edward M Leter, Nils Rahner, Lea Velsher, János Papp, Renee C. Niessen, J. Han van Krieken, Lambertus A. Kiemeney, Ad Geurts van Kessel, Charlotte W. Ockeloen, Nicoline Hoogerbrugge, Marlies Kempers, Iris D. Nagtegaal, Verena Steinke, Hans K. Schackert, Matthias Kloor, Melanie R. Palomares, Sapna Syngal, Pierre Hutter, Elena M. Stoffel
Publikováno v: Kempers, M J E, Kuiper, R P, Ockeloen, C W, Chappuis, P O, Hutter, P, Rahner, N, Schackert, H K, Steinke, V, Holinski-Feder, E, Morak, M, Kloor, M, Buttner, R, Verwiel, E T P, van Krieken, J H, Nagtegaal, I D, Goossens, M, van der Post, R S, Niessen, R C, Sijmons, RH, Kluijt, I, Hogervorst, F B L, Leter, E M, Gille, J J P, Aalfs, C M, Redeker, E J W, Hes, F J, Tops, C M J, van Nesselrooij, B P M, van Gijn, M E, Garcia, E B G, Eccles, D M, Bunyan, D J, Syngal, S, Stoffel, E M, Culver, J O, Palomares, M R, Graham, T, Velsher, L, Papp, J, Olah, E, Chan, T L, Leung, S Y, van Kessel, A G, Kiemeney, L A L M, Hoogerbrugge, N & Ligtenberg, M J L 2011, ' Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study ', Lancet Oncology, vol. 12, no. 1, pp. 49-55 . https://doi.org/10.1016/S1470-2045(10)70265-5
The Lancet Oncology, 49-55
STARTPAGE=49;ENDPAGE=55;TITLE=The Lancet Oncology
Lancet Oncology, 12, 1, pp. 49-55
Lancet oncology, 12(1), 49-55. Elsevier Science
Lancet Oncology, 12, 49-55
lancet oncology, 12(1), 49-55. Lancet Publishing Group
Lancet Oncology, 12(1), 49-55. ELSEVIER SCIENCE INC
Lancet Oncology, 12(1), 49-55. Lancet Publishing Group
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 and endometrial cancer. We previously showed that constitutional 3′ end deletions of EPCAM
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85f4a39c0f97e31d38f52cdcda56a8a1
https://hdl.handle.net/2066/97324
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10
Leiden Open Variation Database of the MUTYH Gene
Autor: Patrick Franken, Frans B. L. Hogervorst, Carli M. J. Tops, Riccardo Fodde, Frederik J. Hes, Kathleen Claes, Astrid A. Out, Marie-Pierre Buisine, Stefan Aretz, Shirley Hodgson, Julian R. Sampson, Elke Holinski-Feder, Johan T. den Dunnen, Juul T. Wijnen, Egbert J.W. Redeker, Karl Heinimann, Kristina Lagerstedt-Robinson, Ivonne J. H. M. van Minderhout, Mette Gaustadnes, Maartje Nielsen, Friedrik P. Wikman, Marjan M. Weiss, Chrystelle Colas, Florentia Fostira, Bruno Vankeirsbilck, Ans M.W. van den Ouweland, Rikke Veggerby Grønlund, Peter Devilee, Rodney J. Scott, Sylviane Olschwang, Ivo F.A.C. Fokkema
Publikováno v: Out, A A, Tops, C M J, Nielsen, M, Weiss, M M, van Minderhout, I J H M, Fokkema, I F A C, Buisine, M-P, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, P F, Gaustadnes, M, Heinimann, K, Hodgson, S V, Hogervorst, F B L, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, A M W, Redeker, E J W, Scott, R J, Vankeirsbilck, B, Grønlund, R V, Wijnen, J T, Wikman, F P, Aretz, S, Sampson, J R, Devilee, P, den Dunnen, J T & Hes, F J 2010, ' Leiden Open Variation Database of the MUTYH gene ', Human Mutation, vol. 31, no. 11, pp. 1205-15 . https://doi.org/10.1002/humu.21343
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.
The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A>G/p.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad253e5fbd209d208e41316c0ddef819
https://hdl.handle.net/1765/21496
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