Publications by authors named "Egbert J W Redeker"

13Publications

Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 10 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

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October 2018

Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

JIMD Rep 2018 29;39:83-87. Epub 2017 Jul 29.

Department of Paediatric Neurology, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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July 2017

With expanded carrier screening, founder populations run the risk of being overlooked.

J Community Genet 2017 Oct 29;8(4):327-333. Epub 2017 May 29.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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October 2017

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

J Med Genet 2013 May 15;50(5):339-44. Epub 2013 Mar 15.

Department of Pediatrics, Room H7-237, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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May 2013

Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

Clin Chem 2012 Apr 31;58(4):717-24. Epub 2012 Jan 31.

Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Leuven, Belgium.

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April 2012

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Mol Vis 2008 May 7;14:836-40. Epub 2008 May 7.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Meibergdreef 15, 1105 AZ Amsterdam, TheNetherlands.

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May 2008

A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar 26;103(3):378-81. Epub 2006 Sep 26.

Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry, Amsterdam, The Netherlands.

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March 2007

DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.

Br J Oral Maxillofac Surg 2007 Sep 19;45(6):499-500. Epub 2006 May 19.

Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry (ACTA), University of Amsterdam, The Netherlands.

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September 2007