Publications by authors named "Hans Scheffer"

88Publications

Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.

Mol Ther Nucleic Acids 2019 Dec 19;18:465-475. Epub 2019 Sep 19.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1016/j.omtn.2019.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831832PMC
December 2019

More Dose-dependent Side Effects with Mercaptopurine over Azathioprine in IBD Treatment Due to Relatively Higher Dosing.

Inflamm Bowel Dis 2017 10;23(10):1873-1881

Departments of *Gastroenterology, †Human Genetics, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; ‡Department of Clinical Pharmacy, Pharmacology and Toxicology, Zuyderland Medical Center, Sittard-Geleen, the Netherlands; §Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; ‖Department of Pharmacoepidemiology and Pharmacotherapy, Utrecht University, Utrecht, the Netherlands; ¶Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, the Netherlands; and **Department of Clinical Pharmacy, Máxima Medical Center, Veldhoven, the Netherlands.

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http://dx.doi.org/10.1097/MIB.0000000000001163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598908PMC
October 2017

Guidelines for diagnostic next-generation sequencing.

Eur J Hum Genet 2016 Jan 28;24(1):2-5. Epub 2015 Oct 28.

University Hospital of Tübingen, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2015.226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795226PMC
January 2016

A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Can J Neurol Sci 2015 Jul;42(4):271-3

1Department of Neurology and Parkinson's Disease Centre,Korea University Guro Hospital,Korea University College of Medicine,Seoul,Korea.

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http://www.journals.cambridge.org/abstract_S0317167115000384
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http://dx.doi.org/10.1017/cjn.2015.38DOI Listing
July 2015

Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease.

Gastroenterology 2015 Oct 11;149(4):907-17.e7. Epub 2015 Jun 11.

Department of Human Genetics, Donders Centre for Neuroscience, Radboud university medical center, Nijmegen, The Netherlands; Department of Psychiatry, Donders Centre for Neuroscience, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1053/j.gastro.2015.06.002DOI Listing
October 2015

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

JAMA Neurol 2014 Oct;71(10):1305-10

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France9Laboratoire de Génétique des Maladies Rar.

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http://dx.doi.org/10.1001/jamaneurol.2014.193DOI Listing
October 2014

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

J Invest Dermatol 2014 Aug 27;134(8):2097-2104. Epub 2014 Feb 27.

Department of Dermatology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1038/jid.2014.118DOI Listing
August 2014

Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa.

An Bras Dermatol 2013 Nov-Dec;88(6):966-8

Human Genetics Department, DNA Diagnostics Division, Medical Center, Radboud University Nijmegen, Netherlands, PhD - Human Genetics Department, DNA Diagnostics Division, Radboud University Nijmegen Medical Center, Netherlands.

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http://dx.doi.org/10.1590/abd1806-4841.20131743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900349PMC
September 2014

Clinical exome sequencing in daily practice: 1,000 patients and beyond.

Genome Med 2014 24;6(1). Epub 2014 Jan 24.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, 6500 HC, Nijmegen, The Netherlands.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm5
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http://dx.doi.org/10.1186/gm521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978472PMC
May 2014

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review.

JAMA Neurol 2013 Nov;70(11):1440-4

Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaneurol.2013.3090DOI Listing
November 2013

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Eur J Hum Genet 2013 Jun;21 Suppl 1:S1-5

Section Community Genetics, Department of Clinical Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660957PMC
June 2013

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

J Neurol 2013 Jul 2;260(7):1765-9. Epub 2013 Mar 2.

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s00415-013-6870-xDOI Listing
July 2013

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Eur J Hum Genet 2013 Nov 27;21(11):1312-5. Epub 2013 Feb 27.

Department of Neurology, Radboud University, Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798836PMC
November 2013

Mutational analysis of TARDBP in Parkinson's disease.

Neurobiol Aging 2013 May 9;34(5):1517.e1-3. Epub 2012 Oct 9.

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.09.013DOI Listing
May 2013

Diagnostic exome sequencing in persons with severe intellectual disability.

N Engl J Med 2012 Nov 3;367(20):1921-9. Epub 2012 Oct 3.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1206524DOI Listing
November 2012

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Brain 2012 Oct 10;135(Pt 10):2994-3004. Epub 2012 Sep 10.

Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, 6500 HB, The Netherlands.

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http://dx.doi.org/10.1093/brain/aws224DOI Listing
October 2012

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

Genet Test Mol Biomarkers 2012 Jun 7;16(6):580-91. Epub 2012 Feb 7.

School of Health and Related Medicine, University of Sheffield, Sheffield, United Kingdom.

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http://dx.doi.org/10.1089/gtmb.2011.0236DOI Listing
June 2012

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.

Turk J Pediatr 2010 Sep-Oct;52(5):529-33

Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.

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April 2011

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.

Eur J Hum Genet 2011 May 12;19(5):567-70. Epub 2011 Jan 12.

Department of Human Genetics, Institute for Genetic and Metabolic Diseases, Nijmegen Centre for Evidence Based Practice, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.nature.com/articles/ejhg2010233
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http://dx.doi.org/10.1038/ejhg.2010.233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083617PMC
May 2011

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

J Med Genet 2011 Mar 26;48(3):160-7. Epub 2010 Nov 26.

Department of Genetics, University Medical Center Groningen, Hanzeplein 1, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://dx.doi.org/10.1136/jmg.2010.082230DOI Listing
March 2011

Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.

Genet Test Mol Biomarkers 2009 Oct;13(5):589-97

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1089/gtmb.2009.0020DOI Listing
October 2009

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis.

Ann Neurol 2009 Aug;66(2):227-34

Department of Neurology, Rudolf Magnus Institute of Neuroscience University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ana.21620DOI Listing
August 2009

Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).

Am J Med Genet A 2009 Sep;149A(9):1948-51

Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/ajmg.a.32793
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http://dx.doi.org/10.1002/ajmg.a.32793DOI Listing
September 2009

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).

Birth Defects Res A Clin Mol Teratol 2009 Mar;85(3):216-26

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/bdra.20556DOI Listing
March 2009

HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study.

J Clin Psychopharmacol 2009 Feb;29(1):16-20

Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, the Netherlands.

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http://dx.doi.org/10.1097/JCP.0b013e3181934462DOI Listing
February 2009

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Hum Mutat 2008 Sep;29(9):1125-32

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1002/humu.20750DOI Listing
September 2008

GLUT1 deficiency with delayed myelination responding to ketogenic diet.

Pediatr Neurol 2007 Aug;37(2):130-3

Children's Hospital Aschaffenburg, Aschaffenburg, Germany, and Department of Human Genetics, University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.03.009DOI Listing
August 2007

Pharmacogenetics of anti-TNF treatment in patients with rheumatoid arthritis.

Pharmacogenomics 2007 Jul;8(7):761-73

Radboud University, Nijmegen Medical Centre, Department of Human Genetics, Internal Mail 855, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.2217/14622416.8.7.761DOI Listing
July 2007

The association between HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia.

J Clin Psychopharmacol 2007 Aug;27(4):338-43

Division of Pharmacoepidemiology and Pharmacotherapy, Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.

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http://dx.doi.org/10.1097/JCP.0b013e3180a76dc0DOI Listing
August 2007

Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.

Acta Paediatr 2006 Nov;95(11):1424-8

Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1080/08035250600781846DOI Listing
November 2006

A case of neuromuscular mimicry.

Neuromuscul Disord 2006 Aug 21;16(8):510-3. Epub 2006 Aug 21.

Department of Neurology, Radboud University, Nijmegen Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2006.06.005DOI Listing
August 2006

Neurophysiologic studies in early-onset cerebellar ataxia.

J Clin Neurophysiol 2006 Aug;23(4):381-7

Department of Neurology, University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/01.wnp.0000216262.54227.7aDOI Listing
August 2006

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

Neuromuscul Disord 2006 Feb 19;16(2):122-5. Epub 2006 Jan 19.

Department of Neurology, Radboud University Nijmegen Medical Centre, 326, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660500317
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http://dx.doi.org/10.1016/j.nmd.2005.11.003DOI Listing
February 2006

Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

Ann Neurol 2005 Dec;58(6):865-9

Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, G03.228, PO Box 85500, 3508 GA Utrecht, the Netherlands.

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http://dx.doi.org/10.1002/ana.20652DOI Listing
December 2005

Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.

Pediatr Neurol 2005 Oct;33(4):277-9

Department of Paediatric Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.04.011DOI Listing
October 2005

Spinal muscular atrophy.

Authors:
Hans Scheffer

Methods Mol Med 2004 ;92:343-58

Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands.

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http://dx.doi.org/10.1385/1-59259-432-8:343DOI Listing
April 2004

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.

Clin Dysmorphol 2003 Oct;12(4):221-5

Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany.

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http://dx.doi.org/10.1097/00019605-200310000-00002DOI Listing
October 2003

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

Pediatr Dermatol 2003 May-Jun;20(3):243-8

Department of Dermatology, University of Graz, Graz, Austria.

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http://dx.doi.org/10.1046/j.1525-1470.2003.20312.xDOI Listing
October 2003

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.

J Invest Dermatol 2002 Apr;118(4):626-30

Department of Medical Genetics, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1046/j.1523-1747.2002.01715.xDOI Listing
April 2002