Publications by authors named "Marije Meuwissen"

27Publications

Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature.

Am J Med Genet A 2020 Oct 23;182(10):2437-2441. Epub 2020 Aug 23.

Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61790DOI Listing
October 2020

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.

Am J Med Genet A 2020 03 20;182(3):591-594. Epub 2019 Dec 20.

Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61463DOI Listing
March 2020

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Eur J Med Genet 2019 Aug 6;62(8):103691. Epub 2019 Jun 6.

Center for Medical Genetics, Antwerp University Hospital, Edegem, Belgium; Center for Medical Genetics, University of Antwerp, Edegem, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103691DOI Listing
August 2019

Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.

Mol Genet Genomic Med 2018 Apr 24. Epub 2018 Apr 24.

Department of Medical Genetics, Hôpital Erasme and IRIBHM, Université Libre de Bruxelles, Brussels, Belgium.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mgg3.400
Publisher Site
http://dx.doi.org/10.1002/mgg3.400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081227PMC
April 2018

Thoracic dimples and dysmorphic features associated with a partial duplication and triplication of chromosome 12q24.

Clin Dysmorphol 2016 Oct;25(4):167-73

Departments of aPediatrics bMedical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MCD.0000000000000141DOI Listing
October 2016

PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum.

Eur J Paediatr Neurol 2016 May 13;20(3):474-9. Epub 2016 Jan 13.

Department of Neurology-Pediatric Neurology, University and University Hospital Antwerp, Antwerp, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.01.002DOI Listing
May 2016

Prolonged right ventricular ejection delay identifies high risk patients and gender differences in Brugada syndrome.

Int J Cardiol 2015 Jul 1;191:90-6. Epub 2015 May 1.

Department of Non-invasive Cardiology, Vrije Universiteit Brussel (VUB), UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijcard.2015.04.243DOI Listing
July 2015

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Am J Med Genet A 2013 Jun 23;161A(6):1376-80. Epub 2013 Apr 23.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35858DOI Listing
June 2013

Neurological findings in incontinentia pigmenti; a review.

Eur J Med Genet 2012 May 4;55(5):323-31. Epub 2012 May 4.

Dept. of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 50, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.04.007DOI Listing
May 2012