Arjan P M de Brouwer

Arjan P M de Brouwer

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Arjan P M de Brouwer

Publications by authors named "Arjan P M de Brouwer"

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A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.

Mol Genet Genomic Med 2019 Oct 15;7(10):e00861. Epub 2019 Aug 15.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785448PMC
October 2019

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Neurol Genet 2018 08 1;4(4):e262. Epub 2018 Aug 1.

Genome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.

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http://dx.doi.org/10.1212/NXG.0000000000000262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089694PMC
August 2018

Mutations in Causing a Novel Orthostatic Hypotension Syndrome.

Circ Res 2018 03 17;122(6):846-854. Epub 2018 Jan 17.

From the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.117.31194
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http://dx.doi.org/10.1161/CIRCRESAHA.117.311949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924476PMC
March 2018

Two Novel Pathogenic Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Mol Syndromol 2017 Dec 29;9(1):45-51. Epub 2017 Aug 29.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGMJM), Centro Hospitalar do Porto, EPE, Porto, Portugal.

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http://dx.doi.org/10.1159/000479177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803688PMC
December 2017

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

J Inherit Metab Dis 2015 Jan 2;38(1):99-110. Epub 2014 Sep 2.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9759-7DOI Listing
January 2015

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

J Med Genet 2014 Jul 8;51(7):487-94. Epub 2014 May 8.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Diseases, Radboud university medical center, Nijmegen, The Netherlands.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-102182
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http://dx.doi.org/10.1136/jmedgenet-2013-102182DOI Listing
July 2014

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

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.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.

Eur J Med Genet 2014 Apr 22;57(5):200-6. Epub 2014 Jan 22.

Department of Genetics, Rouen University Hospital, Rouen, France; Inserm U1079, Rouen, France; Normandie University, IRIB, Rouen, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.12.012DOI Listing
April 2014

Clinical significance of de novo and inherited copy-number variation.

Hum Mutat 2013 Dec 10;34(12):1679-87. Epub 2013 Oct 10.

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

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http://dx.doi.org/10.1002/humu.22442DOI Listing
December 2013

The contribution of the nonhomologous region of Prs1 to the maintenance of cell wall integrity and cell viability.

FEMS Yeast Res 2013 May 13;13(3):291-301. Epub 2013 Mar 13.

School of Life Sciences, Heriot-Watt University, Edinburgh, UK.

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http://dx.doi.org/10.1111/1567-1364.12033DOI Listing
May 2013

Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Int J Audiol 2013 Jan 28;52(1):23-8. Epub 2012 Nov 28.

Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.

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http://dx.doi.org/10.3109/14992027.2012.736032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4511087PMC
January 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Eur J Hum Genet 2012 Jul 1;20(7):729-33. Epub 2012 Feb 1.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376266PMC
July 2012

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

Am J Med Genet A 2011 Dec 3;155A(12):3144-7. Epub 2011 Nov 3.

Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.

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http://doi.wiley.com/10.1002/ajmg.a.34311
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http://dx.doi.org/10.1002/ajmg.a.34311DOI Listing
December 2011

The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

Nucleosides Nucleotides Nucleic Acids 2011 Dec;30(12):1129-39

University of Queensland and Mater Medical Research Institute, Brisbane, Australia.

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http://www.tandfonline.com/doi/abs/10.1080/15257770.2011.591
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http://dx.doi.org/10.1080/15257770.2011.591747DOI Listing
December 2011

PRPS1 mutations: four distinct syndromes and potential treatment.

Am J Hum Genet 2010 Apr;86(4):506-18

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.

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http://dx.doi.org/10.1016/j.ajhg.2010.02.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850427PMC
April 2010

Regulation of MYCN expression in human neuroblastoma cells.

BMC Cancer 2009 Jul 18;9:239. Epub 2009 Jul 18.

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.

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http://dx.doi.org/10.1186/1471-2407-9-239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2720985PMC
July 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Am J Med Genet A 2009 Feb;149A(4):760-6

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

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http://dx.doi.org/10.1002/ajmg.a.32742DOI Listing
February 2009

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Eur J Hum Genet 2008 Dec 25;16(12):1430-6. Epub 2008 Jun 25.

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

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http://dx.doi.org/10.1038/ejhg.2008.110DOI Listing
December 2008

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

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

Int J Pediatr Otorhinolaryngol 2008 Feb 19;72(2):249-55. Epub 2007 Nov 19.

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.ijporl.2007.09.023DOI Listing
February 2008

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

Am J Med Genet A 2007 Apr;143A(8):888-90

Department of Genetic Medicine and Development, Geneva University Medical School and University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.31651DOI Listing
April 2007

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts.

Mol Diagn Ther 2006 ;10(3):197-204

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

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http://dx.doi.org/10.1007/BF03256458DOI Listing
October 2006

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome.

Am J Hum Genet 2006 Sep 3;79(3):549-55. Epub 2006 Jul 3.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05422-970 São Paulo, SP, Brazil.

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http://dx.doi.org/10.1086/507047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559544PMC
September 2006

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

J Assoc Res Otolaryngol 2006 Jun 25;7(2):173-81. Epub 2006 Apr 25.

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

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http://dx.doi.org/10.1007/s10162-006-0033-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2504577PMC
June 2006

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.

Hear Res 2005 May;203(1-2):88-93

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

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http://dx.doi.org/10.1016/j.heares.2004.11.022DOI Listing
May 2005