Maaike Vreeburg

Maaike Vreeburg

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Maaike Vreeburg

Maaike Vreeburg

Publications by authors named "Maaike Vreeburg"

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18Publications

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The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.

Parkinsonism Relat Disord 2019 May 29;62:215-220. Epub 2018 Nov 29.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.11.027DOI Listing
May 2019

Review of familial cerebral cavernous malformations and report of seven additional families.

Am J Med Genet A 2017 Feb 28;173(2):338-351. Epub 2016 Oct 28.

Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.38028DOI Listing
February 2017

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Hum Mol Genet 2016 Feb 8;25(3):546-57. Epub 2015 Dec 8.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands, Donders Institute for Brain, Cognition and Behaviour, Nijmegen 6525 EN, The Netherlands

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http://dx.doi.org/10.1093/hmg/ddv495DOI Listing
February 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 2015

Novel KRT83 and KRT86 mutations associated with monilethrix.

Exp Dermatol 2015 Mar;24(3):222-4

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands; Institute of Medical Biology, Immunos, Singapore.

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http://dx.doi.org/10.1111/exd.12624DOI Listing
March 2015

Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome.

Nat Rev Urol 2010 Oct 14;7(10):583-7. Epub 2010 Sep 14.

Department of Dermatology, Research Institute Growth and Development (GROW), School for Oncology and Developmental Biology, University of Maastricht, P. O. Box 616, 6200 MD Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/nrurol.2010.140DOI Listing
October 2010

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.

Int J Dermatol 2008 Nov;47 Suppl 1:45-8

Department of Dermatology, Maastricht University Medical Center, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03960.xDOI Listing
November 2008

Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 gene.

Int J Dermatol 2008 Nov;47 Suppl 1:52-5

Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands.

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http://doi.wiley.com/10.1111/j.1365-4632.2008.03962.x
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http://dx.doi.org/10.1111/j.1365-4632.2008.03962.xDOI Listing
November 2008