Publications by authors named "Egbert Redeker"

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

PLoS One· October 2021

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Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
Karolien Van De Maele, Charlotte Smulders, Ginette Ecury-Goossen, Irsa Rosina-Angelista, Egbert Redeker

Clin Dysmorphol· April 2019

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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Antonie D Kline, Joanna F Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A Deardorff, Egbert Redeker

Nat Rev Genet· October 2018

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Cancer Risks for PMS2-Associated Lynch Syndrome.
Sanne W Ten Broeke, Heleen M van der Klift, Carli M J Tops, Stefan Aretz, Inge Bernstein, Egbert J W Redeker

J Clin Oncol· October 2018

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With expanded carrier screening, founder populations run the risk of being overlooked.
Inge B Mathijssen, Merel C van Maarle, Iris I M Kleiss, Egbert J W Redeker, Leo P Ten Kate

J Community Genet· October 2017

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Phenotypes and genotypes in individuals with SMC1A variants.
Sylvia Huisman, Paul A Mulder, Egbert Redeker, Ingrid Bader, Anne-Marie Bisgaard

Am J Med Genet A· August 2017

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Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
Irene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, Frédéric M Vaz, Sacha Ferdinandusse

JIMD Rep· July 2017

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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
Charlotte J Dommering, Lidewij Henneman, Annemarie H van der Hout, Marianne A Jonker, Carli M J Tops, Egbert J W Redeker

Fam Cancer· April 2017

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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Patrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, Lennart F Johansson, Anthonie J van Essen, Egbert J W Redeker

BMC Med Genomics· February 2016

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Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Inge B Mathijssen, Lidewij Henneman, Janneke M C van Eeten-Nijman, Phillis Lakeman, Cecile P E Ottenheim, Egbert J W Redeker

Eur J Med Genet· March 2015

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Egbert Redeker

J Med Genet· October 2014

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High rate of mosaicism in individuals with Cornelia de Lange syndrome.
Sylvia A Huisman, Egbert J W Redeker, Saskia M Maas, Marcel M Mannens, Raoul C M Hennekam

J Med Genet· May 2013

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Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
Silke Hollants, Egbert J W Redeker, Gert Matthijs

Clin Chem· April 2012

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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Marlies J E Kempers, Roland P Kuiper, Charlotte W Ockeloen, Pierre O Chappuis, Pierre Hutter, Egbert J W Redeker

Lancet Oncol· January 2011

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Leiden Open Variation Database of the MUTYH gene.
Astrid A Out, Carli M J Tops, Maartje Nielsen, Marjan M Weiss, Ivonne J H M van Minderhout, Egbert J W Redeker

Hum Mutat· November 2010

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Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
Jorge Oliveira, Cristina Dias, Egbert Redeker, Eurico Costa, João Silva

Hum Mutat· November 2010

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Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
Egbert J W Redeker, Annette S H de Visser, Arthur A B Bergen, Marcel M A M Mannens

Mol Vis· May 2008

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DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.
Jan de Lange, Merel C van Maarle, Hans P van den Akker, Egbert J W Redeker

Br J Oral Maxillofac Surg· September 2007

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Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair.
Mischa G Vrouwe, Elhaam Elghalbzouri-Maghrani, Matty Meijers, Peter Schouten, Barbara C Godthelp, Egbert J Redeker

Hum Mol Genet· June 2007

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Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome.
Zahurul A Bhuiyan, Helen Stewart, Egbert J Redeker, Marcel M A M Mannens, Raoul C M Hennekam

Eur J Hum Genet· April 2007

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A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.
Jan de Lange, Merel C van Maarle, Hans P van den Akker, Egbert J W Redeker

Oral Surg Oral Med Oral Pathol Oral Radiol Endod· March 2007

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