Publications by authors named "Merel C van Maarle"

23Publications

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results.

Genet Med 2018 11 1;20(11):1472-1476. Epub 2018 Mar 1.

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

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http://dx.doi.org/10.1038/gim.2018.32DOI Listing
November 2018

Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.

J Genet Couns 2017 Dec 30;26(6):1348-1356. Epub 2017 Jun 30.

Department of Clinical Genetics, Section Community Genetics and Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10897-017-0118-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672853PMC
December 2017

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

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

Prenat Diagn 2016 Dec 16;36(12):1091-1098. Epub 2016 Nov 16.

Department of Clinical Genetics, Section 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/10.1002/pd.4941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5213994PMC
December 2016

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

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2015 23;16(5-6):410-1. Epub 2015 Jul 23.

a Department of Neurology , The Netherlands.

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http://dx.doi.org/10.3109/21678421.2015.1066821DOI Listing
August 2016

Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening?

Eur J Hum Genet 2016 Feb 13;24(2):171-7. Epub 2015 May 13.

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

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http://dx.doi.org/10.1038/ejhg.2015.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717216PMC
February 2016

A new mutation for Huntington disease following maternal transmission of an intermediate allele.

Eur J Med Genet 2015 Jan 20;58(1):28-30. Epub 2014 Nov 20.

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

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http://dx.doi.org/10.1016/j.ejmg.2014.11.005DOI Listing
January 2015

Genetics of early miscarriage.

Biochim Biophys Acta 2012 Dec 13;1822(12):1951-9. Epub 2012 Jul 13.

Department of Obstetrics and Gynaecology, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.07.001DOI Listing
December 2012

[The joys and burdens within clinical genetics--paternal discrepancy causes dilemmas].

Ned Tijdschr Geneeskd 2010 ;154(51-52):A2785

Academisch Medisch Centrum, Amsterdam, afd. Klinische Genetica, the Netherlands.

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July 2011

A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar 26;103(3):378-81. Epub 2006 Sep 26.

Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.tripleo.2006.05.012DOI Listing
March 2007

DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma.

Br J Oral Maxillofac Surg 2007 Sep 19;45(6):499-500. Epub 2006 May 19.

Department of Oral and Maxillofacial Surgery, Academic Medical Center/Academic Center for Dentistry (ACTA), University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bjoms.2006.03.017DOI Listing
September 2007