Margit Schraders

Margit Schraders

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Margit Schraders

Margit Schraders

Publications by authors named "Margit Schraders"

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35Publications

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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Am J Hum Genet 2018 07 28;103(1):74-88. Epub 2018 Jun 28.

Hearing and Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037131PMC
July 2018

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Hear Res 2017 04 12;347:56-62. Epub 2017 Jan 12.

Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.heares.2016.12.017DOI Listing
April 2017

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.

Ear Hear 2015 Mar-Apr;36(2):205-11

1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000095DOI Listing
May 2016

Similar phenotypes caused by mutations in OTOG and OTOGL.

Ear Hear 2014 May-Jun;35(3):e84-91

1Department of Otorhinolaryngology, Hearing & Genes, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 2Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands; 3Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands; 4Programa de Medicina Molecular i Genètica, Hospital Vall d'Hebron, Barcelona, Spain; 5Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain; 6Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; 7Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain; 8John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA; 9Dr. John T. Macdonald Department of Human Genetics, University of Miami, Miami, Florida, USA; 10Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey; and 11Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1097/AUD.0000000000000008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999258PMC
February 2015

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Eur J Hum Genet 2015 Feb 30;23(2):189-94. Epub 2014 Apr 30.

1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297911PMC
February 2015

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.

J Hum Genet 2014 Dec 9;59(12):683-6. Epub 2014 Oct 9.

1] Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2014.86DOI Listing
December 2014

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

J Hum Genet 2013 Dec 31;58(12):819-21. Epub 2013 Oct 31.

1] Department of Otorhinolaryngology, Head and Neck Surgery, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/jhg.2013.101DOI Listing
December 2013

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s10162-011-0282-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214237PMC
December 2011

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

Audiol Neurootol 2011 26;16(2):93-105. Epub 2010 Jun 26.

Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000313282DOI Listing
April 2011

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.

Ann Otol Rhinol Laryngol 2011 Apr;120(4):243-8

Department of Otorhinolaryngology-Raboud University Nijmegen Medical Center, Clinical Neuroscience Donders Center for Brain, Cognition and Behavior, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1177/000348941112000405DOI Listing
April 2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Nat Commun 2011 Feb 15;2:201. Epub 2011 Feb 15.

Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1038/ncomms1200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105340PMC
February 2011

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

Am J Hum Genet 2010 Apr 25;86(4):604-10. Epub 2010 Mar 25.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2010.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850434PMC
April 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Am J Hum Genet 2010 Feb 4;86(2):138-47. Epub 2010 Feb 4.

Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820176PMC
February 2010

Hypermutation in mantle cell lymphoma does not indicate a clinical or biological subentity.

Mod Pathol 2009 Mar 9;22(3):416-25. Epub 2009 Jan 9.

Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1038/modpathol.2008.199DOI Listing
March 2009

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

Br J Haematol 2008 Oct 10;143(2):210-21. Epub 2008 Aug 10.

Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07334.xDOI Listing
October 2008

Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.

Blood 2005 Feb 21;105(4):1686-93. Epub 2004 Oct 21.

Department of Pathology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1182/blood-2004-07-2730DOI Listing
February 2005

Lack of Bcl-2 expression in follicular lymphoma may be caused by mutations in the BCL2 gene or by absence of the t(14;18) translocation.

J Pathol 2005 Feb;205(3):329-35

Department of Pathology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/path.1689DOI Listing
February 2005

Increased vascularization predicts favorable outcome in follicular lymphoma.

Clin Cancer Res 2005 Jan;11(1):154-61

Department of Hematology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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January 2005