Publications by authors named "Edwin Reyniers"

38Publications

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:

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

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

Eur J Med Genet 2018 Apr 28;61(4):209-212. Epub 2017 Nov 28.

MIND Institute, University of California Davis, Sacramento, CA, USA; Department of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173035
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http://dx.doi.org/10.1016/j.ejmg.2017.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6991138PMC
April 2018

Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.

J Allergy Clin Immunol Pract 2018 Jan - Feb;6(1):277-279.e1. Epub 2017 Sep 6.

Department of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.jaip.2017.07.002DOI Listing
October 2019

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.

Gene 2017 Mar 16;605:92-98. Epub 2016 Dec 16.

Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.12.013DOI Listing
March 2017

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.

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

Familial hypertryptasemia with associated mast cell activation syndrome.

J Allergy Clin Immunol 2014 Dec 30;134(6):1448-1450.e3. Epub 2014 Jul 30.

Department of Immunology, Allergology, and Rheumatology, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.06.007DOI Listing
December 2014

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

Autism Res 2012 Aug 11;5(4):277-81. Epub 2012 Jun 11.

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

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http://dx.doi.org/10.1002/aur.1240DOI Listing
August 2012

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Am J Hum Genet 2012 Jun 17;90(6):1071-8. Epub 2012 May 17.

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

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http://dx.doi.org/10.1016/j.ajhg.2012.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370266PMC
June 2012

Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation.

Am J Med Genet A 2011 Feb 14;155A(2):343-8. Epub 2011 Jan 14.

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

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http://doi.wiley.com/10.1002/ajmg.a.33810
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http://dx.doi.org/10.1002/ajmg.a.33810DOI Listing
February 2011

CNV-WebStore: online CNV analysis, storage and interpretation.

BMC Bioinformatics 2011 Jan 5;12. Epub 2011 Jan 5.

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

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http://dx.doi.org/10.1186/1471-2105-12-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3024943PMC
January 2011

Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene.

Arch Iran Med 2008 May;11(3):330-4

Genetics Research Center, University of Welfare Sciences and Rehabilitation, Tehran, Iran.

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http://dx.doi.org/08113/AIM.0017DOI Listing
May 2008

Muscle pain as the only presenting symptom in a girl with dystrophinopathy.

Pediatr Neurol 2008 Jan;38(1):64-6

Section of Child Neurology, Department of Neurology, University Hospital Antwerp, Edegem, Belgium.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.09.006DOI Listing
January 2008

Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation.

Hum Mutat 2007 Feb;28(2):177-82

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

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http://doi.wiley.com/10.1002/humu.20421
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http://dx.doi.org/10.1002/humu.20421DOI Listing
February 2007

A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.

Eur J Med Genet 2006 Sep-Oct;49(5):402-13. Epub 2006 Jan 30.

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

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http://dx.doi.org/10.1016/j.ejmg.2006.01.001DOI Listing
November 2006

Expression profiling suggests underexpression of the GABA(A) receptor subunit delta in the fragile X knockout mouse model.

Neurobiol Dis 2006 Feb 30;21(2):346-57. Epub 2005 Sep 30.

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.nbd.2005.07.017DOI Listing
February 2006

Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods.

Hum Mutat 2005 Jun;25(6):513-24

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

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http://dx.doi.org/10.1002/humu.20185DOI Listing
June 2005

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.

Am J Med Genet A 2005 May;135(1):66-8

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30663DOI Listing
May 2005

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Am J Med Genet A 2005 Feb;133A(1):82-4

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

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http://dx.doi.org/10.1002/ajmg.a.30517DOI Listing
February 2005

Screening for subtelomeric rearrangements using genetic markers in 70 patients with unexplained mental retardation.

Ann Genet 2004 Jan-Mar;47(1):53-9

Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.

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http://dx.doi.org/10.1016/j.anngen.2003.10.001DOI Listing
December 2004

Family MRX9 revisited: further evidence for locus heterogeneity in MRX.

Am J Med Genet 2002 Sep;112(1):17-22

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

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http://doi.wiley.com/10.1002/ajmg.10663
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http://dx.doi.org/10.1002/ajmg.10663DOI Listing
September 2002