Publications by authors named "Astrid R Oudakker"

15Publications

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

Dev Biol 2014 Feb 19;386(2):395-407. Epub 2013 Dec 19.

Department of Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ydbio.2013.12.016DOI Listing
February 2014

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Am J Med Genet A 2009 Feb;149A(4):760-6

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

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http://dx.doi.org/10.1002/ajmg.a.32742DOI Listing
February 2009

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.

Am J Hum Genet 2007 Oct 21;81(4):813-20. Epub 2007 Aug 21.

Centre for Reproduction, Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1086/521314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227931PMC
October 2007

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

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Am J Med Genet 2002 Jul;110(3):243-7

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

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http://dx.doi.org/10.1002/ajmg.10446DOI Listing
July 2002

Low frequency of MECP2 mutations in mentally retarded males.

Eur J Hum Genet 2002 Aug;10(8):487-90

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

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http://dx.doi.org/10.1038/sj.ejhg.5200836DOI Listing
August 2002

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression.

Fertil Steril 2002 Feb;77(2):415-8

Department of Human Genetics, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/s0015-0282(01)02996-xDOI Listing
February 2002