Arjan Pm de Brouwer

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi request reprint Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Diagn Ther 10:197-204. 2006
  2. ncbi request reprint Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:207-8. 2007
  3. pmc Arts syndrome is caused by loss-of-function mutations in PRPS1
    Arjan P M de Brouwer
    Departments of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 81:507-18. 2007
  4. pmc PRPS1 mutations: four distinct syndromes and potential treatment
    Arjan P M de Brouwer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute of Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 86:506-18. 2010
  5. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
  6. pmc Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability
    Cecile Pagan
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    BMC Med Genet 12:17. 2011
  7. pmc Regulation of MYCN expression in human neuroblastoma cells
    Joannes F M Jacobs
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    BMC Cancer 9:239. 2009
  8. doi request reprint A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
    Arjan P M de Brouwer
    1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 3 Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 22:480-5. 2014

Collaborators

Detail Information

Publications8

  1. ncbi request reprint Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Diagn Ther 10:197-204. 2006
    ..Hence, the choice of reference gene is critical in all experiments that require normalization of expression data...
  2. ncbi request reprint Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:207-8. 2007
    ..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers...
  3. pmc Arts syndrome is caused by loss-of-function mutations in PRPS1
    Arjan P M de Brouwer
    Departments of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 81:507-18. 2007
    ..To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway...
  4. pmc PRPS1 mutations: four distinct syndromes and potential treatment
    Arjan P M de Brouwer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute of Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 86:506-18. 2010
    ..C., unpublished data)...
  5. pmc A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
    Lars R Jensen
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Pathogenetics 3:2. 2010
    ..Specific transcriptional targets of KDM5C, however, are still unknown and the effects of KDM5C deficiency on gene expression have not yet been investigated...
  6. pmc Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability
    Cecile Pagan
    Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
    BMC Med Genet 12:17. 2011
    ..Thus the aim of the study was to ascertain the genetic variability of ASMT in a large cohort of patients with ID and controls...
  7. pmc Regulation of MYCN expression in human neuroblastoma cells
    Joannes F M Jacobs
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    BMC Cancer 9:239. 2009
    ..Both MYCNOS and DeltaMYCN are potential inhibitors of MYCN either at the mRNA or at the protein level...
  8. doi request reprint A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy
    Arjan P M de Brouwer
    1 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 2 Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands 3 Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands
    Eur J Hum Genet 22:480-5. 2014
    ..In conclusion, we have identified the first DMD mutation in Dp71 that results in ID without muscular dystrophy. ..