Publications by authors named "Marjolein H Willemsen"

48Publications

Epilepsy phenotype in individuals with chromosomal duplication encompassing .

Epilepsia Open 2020 Jun 9;5(2):301-306. Epub 2020 May 9.

Program in Genetics and Genome Biology Hospital for Sick Children Research Institute Toronto ON Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12396DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7278552PMC
June 2020

The c.1A > C start codon mutation in is associated with a protracted disease course.

JIMD Rep 2020 Mar 7;52(1):23-27. Epub 2020 Feb 7.

Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University Utrecht The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7052694PMC
March 2020

Phenytoin as a last-resort treatment in encephalopathy.

Epilepsia Open 2017 09 16;2(3):343-344. Epub 2017 May 16.

Department of Neurology Academic Center for Epileptology Kempenhaeghe and Maastricht UMC+Heeze the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/epi4.12059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862112PMC
September 2017

Letter: Recruitment of patients with both epilepsy and intellectual disability.

Epilepsia 2015 Apr;56(4):662-3

Department of Neurology, Academic Center for Epileptology, Kempenhaeghe, Heeze, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12948DOI Listing
April 2015

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:

View Article

Download full-text PDF

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

[Genetic diagnostics in intellectual disability: what is the benefit?].

Ned Tijdschr Geneeskd 2014 ;158:A8098

Radboudumc, afd. Genetica, Nijmegen.

View Article

Download full-text PDF

Source
June 2015

Genome sequencing identifies major causes of severe intellectual disability.

Nature 2014 Jul 4;511(7509):344-7. Epub 2014 Jun 4.

1] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2] Department of Clinical Genetics, Maastricht University Medical Centre. Universiteitssingel 50, 6229 ER Maastricht, the Netherlands [3].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature13394DOI Listing
July 2014

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.

View Article

Download full-text PDF

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

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.

Gene 2014 Mar 16;538(1):30-5. Epub 2014 Jan 16.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2014.01.027DOI Listing
March 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Eur J Hum Genet 2013 Dec 1;21(12):1349-55. Epub 2013 May 1.

1] Department of cardiovascular sciences, Centre for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium [2] Department of Pediatrics, UZ Leuven, Leuven, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.86DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831085PMC
December 2013

Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.

Arterioscler Thromb Vasc Biol 2013 Jul 25;33(7):1538-43. Epub 2013 Apr 25.

Biomolecular Mass Spectrometry and Proteomics and Bijvoet Center for Biomolecular Research and Utrecht Institute for Pharmaceutical Sciences, Utrecht University, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/ATVBAHA.112.300916DOI Listing
July 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.

View Article

Download full-text PDF

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

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

Neuropsychiatr Dis Treat 2012 19;8:175-9. Epub 2012 Apr 19.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray.

View Article

Download full-text PDF

Source
http://www.dovepress.com/phelan-mcdermid-syndrome-in-two-adu
Publisher Site
http://dx.doi.org/10.2147/NDT.S30506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3346055PMC
August 2012

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.

Eur J Med Genet 2009 Mar-Jun;52(2-3):134-9. Epub 2009 Mar 19.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2009.03.003DOI Listing
September 2009