Hans van Bokhoven

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. pmc Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
    Jeroen van Reeuwijk
    Department of Human Genetics 855, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 121:685-90. 2007
  2. ncbi request reprint MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
    Hans van Bokhoven
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands
    Nat Genet 37:465-7. 2005
  3. doi request reprint Genetic and epigenetic networks in intellectual disabilities
    Hans van Bokhoven
    Molecular Neurogenetics Unit, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University, Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands
    Annu Rev Genet 45:81-104. 2011
  4. doi request reprint Disruption of the epigenetic code: an emerging mechanism in mental retardation
    Hans van Bokhoven
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neurobiol Dis 39:3-12. 2010
  5. pmc Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
    Karen Buysse
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 22:1746-54. 2013
  6. doi request reprint Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)
    Tuula Rinne
    Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 149:1948-51. 2009
  7. pmc Splitting p63
    Hans van Bokhoven
    Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands
    Am J Hum Genet 71:1-13. 2002
  8. doi request reprint Genotype-phenotype correlations in MYCN-related Feingold syndrome
    Carlo L M Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:1125-32. 2008
  9. doi request reprint Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 149:760-6. 2009
  10. ncbi request reprint Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis
    Bert van der Zwaag
    Department of Neurology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Brain Res Dev Brain Res 158:66-71. 2005

Detail Information

Publications74

  1. pmc Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
    Jeroen van Reeuwijk
    Department of Human Genetics 855, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Genet 121:685-90. 2007
    ..This finding demonstrates that LARGE gene mutations can give rise to a wide clinical spectrum, similar as for other genes that have a role in the post-translational modification of the alpha-dystroglycan protein...
  2. ncbi request reprint MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
    Hans van Bokhoven
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands
    Nat Genet 37:465-7. 2005
    ..All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage...
  3. doi request reprint Genetic and epigenetic networks in intellectual disabilities
    Hans van Bokhoven
    Molecular Neurogenetics Unit, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Radboud University, Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands
    Annu Rev Genet 45:81-104. 2011
    ..It thus seems that there might be common pathological patterns in ID, despite its bewildering genetic heterogeneity. These common pathways provide attractive opportunities for knowledge-based therapeutic interventions...
  4. doi request reprint Disruption of the epigenetic code: an emerging mechanism in mental retardation
    Hans van Bokhoven
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Neurobiol Dis 39:3-12. 2010
    ..Such research may reveal that a wide variety of mutations in the genetic code result in a more limited number of disruptions to the epigenetic code. If so, this will provide a rationale for therapeutic strategies...
  5. pmc Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
    Karen Buysse
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mol Genet 22:1746-54. 2013
    ..These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of αDG and implicate B3GNT1 as a novel causative gene for WWS...
  6. doi request reprint Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)
    Tuula Rinne
    Department of Human Genetics, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet A 149:1948-51. 2009
    ..However, AEC and RHS mutations in the 5' and 3' ends of the p63 gene point towards a critical role of the DeltaNp63alpha isoform for the AEC/RHS phenotype...
  7. pmc Splitting p63
    Hans van Bokhoven
    Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands
    Am J Hum Genet 71:1-13. 2002
    ..The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation...
  8. doi request reprint Genotype-phenotype correlations in MYCN-related Feingold syndrome
    Carlo L M Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:1125-32. 2008
    ..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis...
  9. doi request reprint Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 149:760-6. 2009
    ....
  10. ncbi request reprint Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis
    Bert van der Zwaag
    Department of Neurology, University Medical Centre Nijmegen, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    Brain Res Dev Brain Res 158:66-71. 2005
    ..We therefore conclude that it is highly unlikely that Plexin-A1 is involved in the pathogenicity of hereditary congenital facial paresis...
  11. ncbi request reprint Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:802-11. 2013
    ..Mutations in more than 10% of all human genes are considered to be involved in this disorder, although the majority of these genes are still unknown...
  12. ncbi request reprint The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    Jeroen van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 27:453-9. 2006
    ..Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations...
  13. pmc Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    Daniel Beltran-Valero de Bernabe
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 71:1033-43. 2002
    ..The implication of O-mannosylation in MEB and WWS suggests new lines of study in understanding the molecular basis of neuronal migration...
  14. ncbi request reprint Pathogenesis of split-hand/split-foot malformation
    Pascal H G Duijf
    Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 12:R51-60. 2003
    ..The identification of novel human and mouse mutations for ectrodactyly will enhance our understanding of AER functions and the pathogenesis of ectrodactyly...
  15. doi request reprint Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies
    Marjolein H Willemsen
    849 Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Eur J Med Genet 55:586-98. 2012
    ..The prevalence of X-chromosome copy number variations in this cohort was 57/4407 (∼1.3%), of which 15 (0.3%) were interpreted as (likely) pathogenic...
  16. pmc Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
    Marjolein H Willemsen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    Eur J Hum Genet 18:429-35. 2010
    ..3 microdeletion syndrome might uncover other mutations in one or both of these genes...
  17. doi request reprint Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
    Dorien Lugtenberg
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 152:638-45. 2010
    ..9-fold lower frequency of ZNF630 duplications was observed in patients, which was not significant either (P-value = 0.163). These data do not show that ZNF630 deletions or duplications are associated with mental retardation...
  18. ncbi request reprint A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1
    Zehra Agha
    Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands
    Gene 538:30-5. 2014
    ....
  19. pmc A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 21:844-9. 2013
    ..Our results show that the clinical spectrum of DPAGT1-CDG is much broader than appreciated so far. ..
  20. ncbi request reprint Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 28:207-8. 2007
    ..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers...
  21. ncbi request reprint MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics
    Tjitske Kleefstra
    Department of Human Genetics, University Medical Centre St Radboud, PO Box 9101, Nijmegen 6500 HB, The Netherlands
    Eur J Hum Genet 12:24-8. 2004
    ..In the remaining patients with unexplained mental retardation, additional clinical features should determine whether analysis of MECP2 is indicated...
  22. ncbi request reprint Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes
    Caroline B Michielse
    Department of Neurology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Eur J Hum Genet 14:1306-12. 2006
    ..The genes PODXL2, PLEXIN-D1, GATA-2, and TMCC1 are also located within the smaller critical interval of the Pakistani HCFP family. Based on the results obtained, all seven genes could be excluded as causative genes in HCFP...
  23. doi request reprint Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice
    Monique C M Balemans
    Department of Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands Department of Cell Biology, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Dev Biol 386:395-407. 2014
    ..The increased expression of bone developmental genes in the Ehmt1(+/-) mice likely contributes to their cranial dysmorphisms and might be explained by diminished Ehmt1-induced H3K9 dimethylation. ..
  24. doi request reprint GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila
    Marjolein H Willemsen
    Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
    J Med Genet 50:507-14. 2013
    ..We recently identified two de novo loss-of-function mutations in GATAD2B by whole exome sequencing in two unrelated individuals with severe intellectual disability...
  25. ncbi request reprint Expanding phenotype of XNP mutations: mild to moderate mental retardation
    Helger G Yntema
    Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet 110:243-7. 2002
    ..These results expand the spectrum of clinical phenotypes known to be due to mutations in the XNP gene, and indicate that XNP mutation analysis should not be restricted to patients with severe MR and characteristic facial features...
  26. pmc Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
    Dirk J Lefeber
    Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 7:e1002427. 2011
    ..We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations...
  27. pmc Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 17:444-53. 2009
    ..We propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe mental retardation accompanied by (progressive) neurological symptoms...
  28. pmc Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
    Tony Roscioli
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Nat Genet 44:581-5. 2012
    ..These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates...
  29. doi request reprint Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
    Marjolein H Willemsen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 48:810-8. 2011
    ..Recent studies identified miRNAs as important regulators of learning and memory in model organisms. So far, no mutations in specific miRNA genes have been associated with impaired cognitive functions...
  30. doi request reprint Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome
    Monique C M Balemans
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands
    Hum Mol Genet 22:852-66. 2013
    ..These data demonstrate that Ehmt1 haploinsufficiency in mice leads to learning deficits and synaptic dysfunction, providing a possible mechanism for the ID phenotype in patients with KS...
  31. pmc Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
    Tjitske Kleefstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 91:73-82. 2012
    ..We propose a highly conserved epigenetic network that underlies cognition in health and disease. This network should allow the design of strategies to treat the growing group of ID pathologies that are caused by epigenetic defects...
  32. ncbi request reprint Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients
    Bert van der Zwaag
    Department of Neurology, Nijmegen, The Netherlands
    Pediatr Neurol 31:114-8. 2004
    ..Taken together, these results lead to the exclusion of the PLEXIN-D1 gene as the causative gene in Möbius syndrome 2, and in isolated Möbius syndrome...
  33. pmc Arts syndrome is caused by loss-of-function mutations in PRPS1
    Arjan P M de Brouwer
    Departments of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 81:507-18. 2007
    ..To replenish low levels of purines, treatment with S-adenosylmethionine theoretically could have therapeutic efficacy, and a clinical trial involving the two affected Australian brothers is currently underway...
  34. pmc Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
    Tjitske Kleefstra
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:370-7. 2006
    ..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome...
  35. ncbi request reprint Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1
    David A Koolen
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands
    J Hum Genet 51:721-6. 2006
    ..Additional research is needed to further establish the role of genes from the 5q35.1 region in brain and limb development and to determine the prevalence of copy number gain in the 5q35.1 region among HPE patients...
  36. ncbi request reprint Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome
    Tjitske Kleefstra
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Med Genet A 140:618-23. 2006
    ..Moreover, it confirms the importance of the Eu-HMTase1 gene as the major causative factor of the classical 9qter syndrome phenotype...
  37. pmc Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1122-7. 2012
    ..Our findings suggest that PACS1 is necessary for the formation of craniofacial structures and that perturbation of its functions results in a specific syndromic ID phenotype...
  38. doi request reprint Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands
    Arch Med Res 43:312-6. 2012
    ..In the present study we investigated a consanguineous Pakistani family with intellectual disability (ID)...
  39. pmc CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
    Arijit Mukhopadhyay
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Hum Genet 128:281-91. 2010
    ..This is the first time the CDK19 gene, a component of the mediator co-activator complex, has been linked to a human disease...
  40. pmc Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus
    Evelyn N Kouwenhoven
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 6:e1001065. 2010
    ..These data provide a proof-of-concept that the catalogue of p63 binding sites identified in this study may be of relevance to the studies of SHFM and other congenital malformations that resemble the p63-associated phenotypes...
  41. doi request reprint Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice
    Monique C M Balemans
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Behav Brain Res 208:47-55. 2010
    ..Together, these observations make it plausible that the Ehmt1(+/-) mouse is a faithful mammalian model for the autistic-like behavioral features of patients with the 9q34.3 subtelomeric deletion syndrome...
  42. ncbi request reprint Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse
    Bert van der Zwaag
    Department of Neurology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Genomics 86:55-67. 2005
    ....
  43. ncbi request reprint Plexin D1 expression is induced on tumor vasculature and tumor cells: a novel target for diagnosis and therapy?
    Ilse Roodink
    Department of Pathology, Radboud University Nijmegen Medical Centre, The Netherlands
    Cancer Res 65:8317-23. 2005
    ..v. injection. These results show that PLXND1 is a clinically relevant marker of tumor vasculature that can be targeted via i.v. injections...
  44. ncbi request reprint p63-associated disorders
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Cell Cycle 6:262-8. 2007
    ..In this article we will present an overview of diseases caused by mutations in the p63 gene and review the known pathogenic p63 gene mutations...
  45. pmc Epigenetic regulation of learning and memory by Drosophila EHMT/G9a
    Jamie M Kramer
    Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Biol 9:e1000569. 2011
    ..Our work thus provides novel insights into the epigenetic control of cognition in health and disease...
  46. pmc Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 94:649-61. 2014
    ..Our results demonstrate that mutations in DEAF1 cause ID and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1. ..
  47. ncbi request reprint A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 17:1968-77. 2008
    ....
  48. pmc Mutations in the human TBX4 gene cause small patella syndrome
    Ernie M H F Bongers
    Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 74:1239-48. 2004
    ....
  49. pmc Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
    Anika H D M Dam
    Centre for Reproduction, Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 81:813-20. 2007
    ..This is the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect, and it could also mean that the identification of other partners like SPATA16 could elucidate acrosome formation...
  50. ncbi request reprint Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene
    Tuula Rinne
    1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 14:904-10. 2006
    ..In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation...
  51. doi request reprint Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders
    Zafar Iqbal
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognitionand Behaviour, Radboud University Medical Centre, Nijmegen, TheNetherlands
    Hum Mol Genet 22:1960-70. 2013
    ..In addition, our findings support the suggested association of ANK3 with various neuropsychiatric disorders and illustrate the genetic and molecular relation between a wide range of neurodevelopmental disorders...
  52. doi request reprint Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
    Marjolein H Willemsen
    Radboud University Nijmegen Medical Centre, Department of Human Genetics, Nijmegen, The Netherlands
    J Med Genet 49:179-83. 2012
    ..Furthermore, it interacts with the LIS1 gene of which haploinsufficiency causes a severe neuronal migration disorder in humans, known as classical lissencephaly or Miller-Dieker syndrome...
  53. ncbi request reprint Pattern of p63 mutations and their phenotypes--update
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Med Genet A 140:1396-406. 2006
    ..This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients...
  54. doi request reprint A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
    Eva Morava
    Radboud University Nijmegen Medical Centre, Institute for Genetic and Metabolic Disease, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Brain 133:3210-20. 2010
    ....
  55. ncbi request reprint High-resolution genomic microarrays for X-linked mental retardation
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Genet Med 9:560-5. 2007
    ..In this review, we describe the developments in this field and specifically highlight the impact of these microarray studies in the field of X-linked mental retardation...
  56. ncbi request reprint Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
    Ernie M H F Bongers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Eur J Hum Genet 13:935-46. 2005
    ..We suggest that the NPS phenotype is broader than previously described and that NTG and hearing impairment are part of NPS. Further studies on modifier factors are needed to understand the mechanisms underlying phenotypic heterogeneity...
  57. doi request reprint Genetic and epigenetic defects in mental retardation
    Jamie M Kramer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Int J Biochem Cell Biol 41:96-107. 2009
    ....
  58. pmc Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics 855, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 91:1073-81. 2012
    ..We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease...
  59. pmc PRPS1 mutations: four distinct syndromes and potential treatment
    Arjan P M de Brouwer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute of Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 86:506-18. 2010
    ..C., unpublished data)...
  60. pmc Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome
    Zafar Iqbal
    Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 86:254-61. 2010
    ..Interestingly however, dermal fibroblasts from one of the individuals without an SH3PXD2B mutation nevertheless expressed lower levels of the TKS4 protein, suggesting a common mechanism underlying disease causation...
  61. pmc Homozygosity mapping in outbred families with mental retardation
    Janneke H M Schuurs-Hoeijmakers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Eur J Hum Genet 19:597-601. 2011
    ..9 Mb (98 genes) in common with the 5.4 Mb MRT11 locus (195 genes). These data support that homozygosity mapping in outbred families may contribute to identification of novel AR-MR genes...
  62. pmc Mutations in MED12 cause X-linked Ohdo syndrome
    Anneke T Vulto-van Silfhout
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 92:401-6. 2013
    ..Together with the recently described KAT6B mutations resulting in Ohdo syndrome Say/Barber/Biesecker/Young/Simpson type, our findings point to aberrant chromatin modification as being central to the pathogenesis of Ohdo syndrome...
  63. doi request reprint Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
    Saskia B Wortmann
    Department of Pediatrics, Radboud University Nijmegen Medical Centre RUNMC, Nijmegen, The Netherlands
    Nat Genet 44:797-802. 2012
    ..Our data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking...
  64. pmc Regulation of MYCN expression in human neuroblastoma cells
    Joannes F M Jacobs
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition and Behaviour, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    BMC Cancer 9:239. 2009
    ..Both MYCNOS and DeltaMYCN are potential inhibitors of MYCN either at the mRNA or at the protein level...
  65. doi request reprint UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients
    Nicole de Leeuw
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Med Genet A 152:3084-90. 2010
    ..Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck...
  66. pmc ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
    Dorien Lugtenberg
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 78:265-78. 2006
    ..Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning...
  67. ncbi request reprint Feingold syndrome: clinical review and genetic mapping
    Jacopo Celli
    University Medical Center Nijmegen, Department of Human Genetics, Nijmegen, The Netherlands
    Am J Med Genet A 122:294-300. 2003
    ....
  68. ncbi request reprint PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis
    Bert van der Zwaag
    Department of Neurology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Dev Dyn 225:336-43. 2002
    ..Based on our results, we suggest that this expression of a member of the plexin family in vascular endothelium could point toward a role in embryonic vasculogenesis...
  69. pmc Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice
    Lisenka E L M Vissers
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    PLoS Genet 7:e1002278. 2011
    ..Furthermore, we present Frem1 mutant mice as the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia...
  70. ncbi request reprint Genetic players in esophageal atresia and tracheoesophageal fistula
    Han G Brunner
    Radboud University Nijmegen Medical Center, Department of Human Genetics 417, Geert Grooteplein 20, 6525GA Nijmegen, The Netherlands
    Curr Opin Genet Dev 15:341-7. 2005
    ..NMYC and SOX2 are transcription factors, whereas CHD7 is encoded by a chromodomain helicase DNA-binding gene, important for chromatin structure and gene expression. These new genes broaden our view of human foregut development...
  71. ncbi request reprint Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts
    Arjan P M de Brouwer
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Mol Diagn Ther 10:197-204. 2006
    ..Hence, the choice of reference gene is critical in all experiments that require normalization of expression data...
  72. pmc OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
    Karlien L M Coene
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands
    Am J Hum Genet 85:465-81. 2009
    ..These findings offer a molecular explanation for the phenotypic spectrum observed for OFD1 mutations; this spectrum now includes OFD1 syndrome, SGBS2, and JS...
  73. ncbi request reprint Low frequency of MECP2 mutations in mentally retarded males
    Helger G Yntema
    Department of Human Genetics, University Medical Center, Nijmegen, The Netherlands
    Eur J Hum Genet 10:487-90. 2002
    ..The true frequency of MECP2 mutations in the mentally retarded has probably been overestimated. Based on our data, the frequency of MECP2 mutations in mentally retarded males is 0.2% (1/475)...
  74. ncbi request reprint Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
    Pascal H G Duijf
    Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 11:799-804. 2002
    ..Our results further show that p63 contains a second transactivation domain which is normally repressed and can become activated by mutations in the DNA binding domain of p63...