Research Topics
Genomes and Genes
| Hans van BokhovenSummaryAffiliation: Radboud University Nijmegen Medical Centre Country: The Netherlands Publications
| Collaborators
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Detail Information
Publications
Genetic and epigenetic networks in intellectual disabilitiesHans 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...
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndromeHans 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...- Disruption of the epigenetic code: an emerging mechanism in mental retardationHans 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... - 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... 
Splitting p63Hans 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...- Genotype-phenotype correlations in MYCN-related Feingold syndromeCarlo 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... - Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeJeroen 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... - Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresisBert 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... - Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thoraxDorien Lugtenberg
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Am J Med Genet A 149:760-6. 2009.... - Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomaliesMarjolein 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... - The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardationJeroen 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... - Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein 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... - Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationDorien 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... - Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan 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... - MECP2 analysis in mentally retarded patients: implications for routine DNA diagnosticsTjitske 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... - Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationDirk 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... - Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien 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... - Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genesCaroline 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... - Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanTony 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... - Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disabilityMarjolein 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... - Expanding phenotype of XNP mutations: mild to moderate mental retardationHelger 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... - Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske 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... - Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David 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... - Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske 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... - Arts syndrome is caused by loss-of-function mutations in PRPS1Arjan 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... - Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 geneTuula 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... - Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndromeTjitske 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... - Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patientsBert 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... - Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndromeJanneke 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... - Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disabilityZafar 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)... - Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locusEvelyn 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... - Epigenetic regulation of learning and memory by Drosophila EHMT/G9aJamie 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... - CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardationArijit 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... - Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout miceMonique 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... - Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouseBert van der Zwaag
Department of Neurology, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
Genomics 86:55-67. 2005.... - p63-associated disordersTuula 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... - 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... - Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel 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... - Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defectsMarjolein 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... - A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva 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.... - High-resolution genomic microarrays for X-linked mental retardationDorien 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... - Pattern of p63 mutations and their phenotypes--updateTuula 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... - Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke 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... - Mutations in the human TBX4 gene cause small patella syndromeErnie 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.... - A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromesTuula Rinne
Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
Hum Mol Genet 17:1968-77. 2008.... - Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermiaAnika 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... - Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar SyndromeZafar 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... - Homozygosity mapping in outbred families with mental retardationJanneke 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... - PRPS1 mutations: four distinct syndromes and potential treatmentArjan 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)... - Genetic and epigenetic defects in mental retardationJamie 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.... - Pathogenesis of split-hand/split-foot malformationPascal 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... - Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessSaskia 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... - Regulation of MYCN expression in human neuroblastoma cellsJoannes 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... - UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patientsNicole 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... - Feingold syndrome: clinical review and genetic mappingJacopo Celli
University Medical Center Nijmegen, Department of Human Genetics, Nijmegen, The Netherlands
Am J Med Genet A 122:294-300. 2003.... - ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien 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... - Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndromeMonique 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... - Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathyErnie 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... - PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesisBert 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... - Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceLisenka 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... - Genetic players in esophageal atresia and tracheoesophageal fistulaHan 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... - OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien 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... - Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblastsArjan 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... - Low frequency of MECP2 mutations in mentally retarded malesHelger 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)... - Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63Pascal 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...