Inge B Mathijssen

Inge B Mathijssen

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Inge B Mathijssen

Inge B Mathijssen

Publications by authors named "Inge B Mathijssen"

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Homozygous DMRT2 variant associates with severe rib malformations in a newborn.

Am J Med Genet A 2018 05;176(5):1216-1221

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38668DOI Listing
May 2018

With expanded carrier screening, founder populations run the risk of being overlooked.

J Community Genet 2017 Oct 29;8(4):327-333. Epub 2017 May 29.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s12687-017-0309-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614881PMC
October 2017

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.

Eur J Public Health 2017 04;27(2):372-377

Department of Clinical Genetics, Section of Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/eurpub/ckw110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5421354PMC
April 2017

LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.

Retina 2017 Jan;37(1):161-172

*Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands; †The Rotterdam Eye Hospital, Rotterdam, the Netherlands; ‡Rivas Zorggroep, Vianen, the Netherlands; §Department of Genome Analysis, Academic Medical Center, Amsterdam, the Netherlands; ¶The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, the Netherlands; and **Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1097/IAE.0000000000001127DOI Listing
January 2017

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.

Prenat Diagn 2015 Oct 5;35(10):945-9. Epub 2015 Apr 5.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://doi.wiley.com/10.1002/pd.4593
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http://dx.doi.org/10.1002/pd.4593DOI Listing
October 2015

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

Eur J Hum Genet 2015 Sep 24;23(9):1151-7. Epub 2014 Dec 24.

1] Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands [2] Department of Functional Genomics, Center for Neurogenomics and Cognition Research, VU University, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538208PMC
September 2015

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.

Mol Cytogenet 2012 Jan 27;5(1). Epub 2012 Jan 27.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1755-8166-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293093PMC
January 2012

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

Cardiovasc Res 2010 Oct 2;88(1):130-9. Epub 2010 Jun 2.

Heart Failure Research Center, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvq178DOI Listing
October 2010

Testicular cancer in a patient with Primrose syndrome.

Eur J Med Genet 2006 Mar-Apr;49(2):127-33. Epub 2005 Jun 23.

Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2005.06.001DOI Listing
April 2009

A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.

Circ Res 2008 Jun 1;102(11):1433-42. Epub 2008 May 1.

Heart Failure Research Center, L2-108-1, Academic Medical Center, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1161/CIRCRESAHA.107.168294DOI Listing
June 2008

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: a recognizable syndrome.

Am J Med Genet A 2005 Jul;136(1):76-80

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30758DOI Listing
July 2005