Willy M Nillesen

Willy M Nillesen

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Willy M Nillesen

Willy M Nillesen

Publications by authors named "Willy M Nillesen"

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34Publications

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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017

Novel genetic causes for cerebral visual impairment.

Eur J Hum Genet 2016 May 9;24(5):660-5. Epub 2015 Sep 9.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2015.186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930090PMC
May 2016

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

Mol Vis 2015 15;21:285-92. Epub 2015 Mar 15.

Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360166PMC
September 2015

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Indian J Hum Genet 2013 Apr;19(2):171-8

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758723PMC
http://dx.doi.org/10.4103/0971-6866.116118DOI Listing
April 2013

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Eur J Hum Genet 2012 Jul 1;20(7):729-33. Epub 2012 Feb 1.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2012.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376266PMC
July 2012

A cytogenetic study in a large population of intellectually disabled Indonesians.

Genet Test Mol Biomarkers 2012 May 22;16(5):412-7. Epub 2011 Dec 22.

Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University GSG, Semarang, Indonesia.

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http://dx.doi.org/10.1089/gtmb.2011.0157DOI Listing
May 2012

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.

Dis Model Mech 2011 May 24;4(3):393-9. Epub 2011 Jan 24.

Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands.

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http://dx.doi.org/10.1242/dmm.007112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097460PMC
May 2011

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Hum Mutat 2009 Mar;30(3):283-92

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://doi.wiley.com/10.1002/humu.20883
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http://dx.doi.org/10.1002/humu.20883DOI Listing
March 2009

Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

Am J Med Genet A 2005 Apr;134A(2):165-70

Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30598DOI Listing
April 2005

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Eur J Hum Genet 2004 Jan;12(1):24-8

Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, Nijmegen 6500 HB, The Netherlands.

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http://www.nature.com/articles/5201080
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http://dx.doi.org/10.1038/sj.ejhg.5201080DOI Listing
January 2004