Publications by authors named "Anneke Maat-Kievit"

32Publications

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

Hum Mutat 2013 Nov 7;34(11):1486-9. Epub 2013 Oct 7.

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

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http://dx.doi.org/10.1002/humu.22432DOI Listing
November 2013

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2).

Eur J Hum Genet 2014 Feb 12;22(2). Epub 2013 Jun 12.

Department Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895647PMC
February 2014

Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.

Br J Ophthalmol 2013 May 20;97(5):583-7. Epub 2013 Feb 20.

Department of Ophthalmology, Academic Medical Centre, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302367DOI Listing
May 2013

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Am J Med Genet A 2012 Jun 14;158A(6):1472-6. Epub 2012 May 14.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35365DOI Listing
June 2012

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.

Eur J Hum Genet 2012 Feb 10;20(2):134-40. Epub 2011 Aug 10.

Molecular Cardiology Laboratory, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260921PMC
February 2012

Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction.

Biochim Biophys Acta 2010 Sep 12;1802(9):774-81. Epub 2010 Jun 12.

Department of Clinical Genetics, Erasmus Medical Centre, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2010.06.004DOI Listing
September 2010

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Am J Med Genet A 2009 Dec;149A(12):2700-5

The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.33095
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http://dx.doi.org/10.1002/ajmg.a.33095DOI Listing
December 2009

Estimating decreased risks for Huntington disease without a test.

Eur J Epidemiol 2008 30;23(4):281-7. Epub 2008 Jan 30.

Department of Medical Psychology and Psychotherapy, Netherlands Institute of Health Sciences, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10654-008-9224-8DOI Listing
December 2008

Assessing genetic effects in survival data by correlating martingale residuals with an application to age at onset of Huntington disease.

Stat Med 2006 Sep;25(18):3190-200

Department of Medical Statistics, Leiden University Medical Centre, P.O. Box 9604, Leiden, 2300 RC, The Netherlands.

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http://dx.doi.org/10.1002/sim.2245DOI Listing
September 2006

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.

Mov Disord 2006 Mar;21(3):396-401

Department of Neurology, Erasmus MC University Medical Center Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/mds.20708DOI Listing
March 2006

Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7-10 years after the test.

Health Psychol 2004 Mar;23(2):189-97

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

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http://doi.apa.org/getdoi.cfm?doi=10.1037/0278-6133.23.2.189
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http://dx.doi.org/10.1037/0278-6133.23.2.189DOI Listing
March 2004

A hereditary disorder in the family and the family life cycle: Huntington disease as a paradigm.

Fam Process 2002 ;41(4):677-92

Department of Clinical Genetics, Leiden University Medical Center, Department of Medical Psychology and Psychotherapy, Erasmus University Medical Center, The Netherlands.

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http://dx.doi.org/10.1111/j.1545-5300.2002.00677.xDOI Listing
May 2003

Testing the test--why pursue a better test for Huntington disease?

Am J Med Genet B Neuropsychiatr Genet 2003 Feb;117B(1):79-85

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

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http://dx.doi.org/10.1002/ajmg.b.10028DOI Listing
February 2003