Publications by authors named "Rick van Minkelen"

40Publications

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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January 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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November 2017

Cognition and gray and white matter characteristics of presymptomatic repeat expansion.

Neurology 2017 Sep 30;89(12):1256-1264. Epub 2017 Aug 30.

From the Departments of Neurology (J.M.P., L.C.J., J.L.P., E.G.D., L.D.K., L.H.M., J.C.v.S.), Epidemiology (T.d.H.), and Clinical Genetics (R.v.M.), Erasmus Medical Center, Rotterdam; Departments of Radiology (L.C.J., J.L.P., E.G.D., S.A.R.B.R.) and Clinical Genetics (L.D.K.), Leiden University Medical Center; Alzheimer Center and Department of Neurology (E.G.D., Y.A.L.P.) and Department of Clinical Genetics (J.C.v.S.), VU Medical Center, Amsterdam; Department of Neurology (T.d.H.), Sint Franciscus Gasthuis, Rotterdam; and Department of Radiology (S.A.R.B.R.) and Leiden Institute for Brain and Cognition (S.A.R.B.R.), Leiden University, the Netherlands.

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September 2017

Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

Dement Geriatr Cogn Dis Extra 2016 May-Aug;6(2):330-340. Epub 2016 Jul 22.

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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July 2016

Cerebral blood flow in presymptomatic MAPT and GRN mutation carriers: A longitudinal arterial spin labeling study.

Neuroimage Clin 2016 3;12:460-5. Epub 2016 Aug 3.

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands.

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November 2017

Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study.

Neurology 2016 07 29;87(4):384-91. Epub 2016 Jun 29.

From the Departments of Neurology (L.C.J., E.G.P.D., T.d.H., J.C.v.S., J.M.P.), Epidemiology (T.d.H.), Psychiatry, Unit of Medical Psychology and Psychotherapy (R.T.), and Clinical Genetics (R.v.M.), Erasmus Medical Center, Rotterdam; Department of Radiology (L.C.J., E.G.P.D.), Leiden University Medical Center, Leiden; Departments of Neurology (E.G.P.D.) and Clinical Genetics (J.C.v.S.), VU Medical Center, Amsterdam; and Department of Neurology (T.d.H.), Sint Franciscus Gasthuis, Rotterdam, the Netherlands.

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July 2016

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Eur J Hum Genet 2016 10 22;24(10):1424-9. Epub 2016 Jun 22.

Center for Lysosomal and Metabolic Diseases, Department of Paediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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October 2016

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells.

Genes Chromosomes Cancer 2016 Apr 22;55(4):350-4. Epub 2016 Jan 22.

Department of Pathology, Nijmegen Center for Molecular Life Sciences (NCMLS), Radboud University Medical Center, Nijmegen, The Netherlands.

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April 2016

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.

JAMA Oncol 2016 Mar;2(3):373-9

Department of Medical Genetics, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, England.

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March 2016

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

BMC Med Genet 2015 Aug 19;16:61. Epub 2015 Aug 19.

Department of Clinical Genetics, Erasmus Medical Center, P.O. Box 2040, Rotterdam, 3000 CA, The Netherlands.

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August 2015

Review and update of SPRED1 mutations causing Legius syndrome.

Hum Mutat 2012 Nov 1;33(11):1538-46. Epub 2012 Aug 1.

Department of Human Genetics, Catholic University Leuven, Leuven, Belgium.

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November 2012

Complete FXN deletion in a patient with Friedreich's ataxia.

Genet Test Mol Biomarkers 2012 Sep 12;16(9):1015-8. Epub 2012 Jun 12.

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

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September 2012

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome.

Clin Dysmorphol 2012 Oct;21(4):212-4

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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October 2012

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation.

J Mol Neurosci 2011 Nov 24;45(3):354-8. Epub 2011 Aug 24.

Department of Neurology, Erasmus Medical Center, 's-Gravendijkwal 230, 3015 CE, Rotterdam, The Netherlands.

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November 2011

Haplotypes of IL1B, IL1RN, IL1R1, and IL1R2 and the risk of venous thrombosis.

Arterioscler Thromb Vasc Biol 2007 Jun 5;27(6):1486-91. Epub 2007 Apr 5.

Hemostasis and Thrombosis Research Center, Department of Hematology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

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June 2007