Publications by authors named "Anneke J A Kievit"

12Publications

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Orphanet J Rare Dis 2019 11 12;14(1):249. Epub 2019 Nov 12.

Erasmus MC, Center for Lysosomal and Metabolic disease, Department of Internal Medicine, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1232-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852993PMC
November 2019

Hemophilia B in a female with intellectual disability caused by a deletion of Xq26.3q28 encompassing the F9.

Mol Genet Genomic Med 2018 11 27;6(6):1220-1224. Epub 2018 Sep 27.

Department of Hematology, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305680PMC
November 2018

Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.

Am J Psychiatry 2017 Nov;174(11):1036-1050

From the Department of Psychiatry and the Department of Clinical Genetics, Erasmus University Medical Center (Erasmus MC), Rotterdam, the Netherlands; the Department of Psychiatry and the Center for Precision Neuropsychiatry, Columbia University, New York; New York State Psychiatric Institute, New York; the Departments of Psychiatry, Neuroscience, and Human Genetics, Mount Sinai School of Medicine, New York; the Clinical Neuroscience Center, Pilgrim Psychiatric Center, West Brentwood, N.Y.; the Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, the Netherlands; Delta Psychiatric Center, Portugaal, the Netherlands; the Department of Human Genetics, Donders Center for Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands; and the Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1176/appi.ajp.2017.16080946DOI Listing
November 2017

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Parkinsonism Relat Disord 2017 03 15;36:33-40. Epub 2016 Dec 15.

Department of Neurology, Erasmus MC Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.12.010DOI Listing
March 2017

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.

Am J Med Genet B Neuropsychiatr Genet 2017 Apr 3;174(3):214-219. Epub 2016 Jun 3.

Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.b.32465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363242PMC
April 2017