Publications by authors named "Martine J van Belzen"

23Publications

Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease.

Neurobiol Aging 2019 01 15;73:230.e9-230.e17. Epub 2018 Sep 15.

Departments of Neurology, Leiden University Medical Centre, Leiden, the Netherlands; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.007DOI Listing
January 2019

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

Am J Med Genet A 2018 05;176(5):1212-1215

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

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http://dx.doi.org/10.1002/ajmg.a.38666DOI Listing
May 2018

Benign and malignant tumors in Rubinstein-Taybi syndrome.

Am J Med Genet A 2018 03 23;176(3):597-608. Epub 2018 Jan 23.

Department of Pathology, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838508PMC
March 2018

Archetypal mutations frequent in public exome: implications for CADASIL.

Ann Clin Transl Neurol 2016 11 28;3(11):844-853. Epub 2016 Sep 28.

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

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http://dx.doi.org/10.1002/acn3.344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099530PMC
November 2016

Reply: Late onset Huntington's disease with 29 CAG repeat expansion.

J Neurol Sci 2016 Sep 22;368:343. Epub 2016 Jul 22.

Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.jns.2016.07.021DOI Listing
September 2016

Is There Convincing Evidence that Intermediate Repeats in the HTT Gene Cause Huntington's Disease?

J Huntingtons Dis 2015 ;4(2):141-8

Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.3233/JHD-140120DOI Listing
June 2016

Making (anti-) sense out of huntingtin levels in Huntington disease.

Mol Neurodegener 2015 Apr 28;10:21. Epub 2015 Apr 28.

Department of Human Genetics, Leiden University Medical Center, Albinusdreef 2, Leiden, 2333, ZA, the Netherlands.

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http://dx.doi.org/10.1186/s13024-015-0018-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411791PMC
April 2015

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

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

EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Eur J Hum Genet 2013 May 19;21(5):480-6. Epub 2012 Sep 19.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641377PMC
May 2013

Parent-of-origin differences of mutant HTT CAG repeat instability in Huntington's disease.

Eur J Med Genet 2011 Jul-Aug;54(4):e413-8. Epub 2011 Apr 23.

Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2011.04.002DOI Listing
October 2011

CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients.

Eur J Hum Genet 2004 Sep;12(9):782-5

Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201165DOI Listing
September 2004

A major non-HLA locus in celiac disease maps to chromosome 19.

Gastroenterology 2003 Oct;125(4):1032-41

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/s0016-5085(03)01205-8DOI Listing
October 2003