Bobby P C Koeleman

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. pmc A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis
    Lara Bossini-Castillo
    Instituto de Parasitologia y Biomedicina Lopez Neyra, IPBLN CSIC, Avenida del Conocimiento s n, Granada, 18100, Spain
    Arthritis Res Ther 14:R85. 2012
  2. pmc Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
    María Teruel
    Instituto de Parasitologia y Biomedicina Lopez Neyra, IPBLN CSIC, Avda, del Conocimiento s n, 18010, Granada, SpainArmilla Granada, Spain
    Arthritis Res Ther 14:R154. 2012
  3. doi request reprint Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy
    Bobby P C Koeleman
    Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Epilepsy Behav 28:S69-71. 2013
  4. ncbi request reprint Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Epilepsia 47:1743-6. 2006
  5. pmc Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
    Alexandra Zhernakova
    Complex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Hum Genet 81:1284-8. 2007
  6. ncbi request reprint CTLA4 is differentially associated with autoimmune diseases in the Dutch population
    Alexandra Zhernakova
    Department of Medical Genetics, University Medical Centre, Wilhelmina Children s Hospital, PO Box 85090, 3508, AB, Utrecht, The Netherlands
    Hum Genet 118:58-66. 2005
  7. pmc Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation
    Linda Volkers
    Department of Medical Genetics, Division of Biomedical Genetics, and 2 Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, 3508 AB Utrecht, Netherlands
    J Gen Physiol 142:641-53. 2013
  8. doi request reprint Functional variants of Fc gamma receptor (FCGR2A) and FCGR3A are not associated with susceptibility to systemic sclerosis in a large European Study (EUSTAR)
    Behrooz Z Alizadeh
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    J Rheumatol 37:1673-9. 2010
  9. ncbi request reprint Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Genet Epidemiol 31:42-50. 2007
  10. ncbi request reprint Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Hum Mol Genet 14:171-8. 2005

Collaborators

Detail Information

Publications18

  1. pmc A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis
    Lara Bossini-Castillo
    Instituto de Parasitologia y Biomedicina Lopez Neyra, IPBLN CSIC, Avenida del Conocimiento s n, Granada, 18100, Spain
    Arthritis Res Ther 14:R85. 2012
    ..The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population...
  2. pmc Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis
    María Teruel
    Instituto de Parasitologia y Biomedicina Lopez Neyra, IPBLN CSIC, Avda, del Conocimiento s n, 18010, Granada, SpainArmilla Granada, Spain
    Arthritis Res Ther 14:R154. 2012
    ..The aim of the present study was to investigate the possible role of CD40 and CD40 ligand (CD40LG) genes in the susceptibility and phenotype expression of systemic sclerosis (SSc)...
  3. doi request reprint Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy
    Bobby P C Koeleman
    Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Epilepsy Behav 28:S69-71. 2013
    ..Second, its mode of inheritance is compatible with a monogenic cause, which promises relative straightforward gene identification through positional cloning. Here, we summarize the current state of affairs...
  4. ncbi request reprint Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Epilepsia 47:1743-6. 2006
    ..We had previously confirmed linkage between JME and 6p11-12 in 18 Dutch families, and shown exclusionary lod scores at 6p21.3. We therefore evaluated the relevance of EFHC1 in our set of 6p11-12-linked families...
  5. pmc Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases
    Alexandra Zhernakova
    Complex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Hum Genet 81:1284-8. 2007
    ..72 [95% CI 0.61-0.86]). Our results replicate and extend the association found in the KIAA1109/Tenr/IL2/IL21 gene region with autoimmune diseases, implying that this locus is a general risk factor for multiple autoimmune diseases...
  6. ncbi request reprint CTLA4 is differentially associated with autoimmune diseases in the Dutch population
    Alexandra Zhernakova
    Department of Medical Genetics, University Medical Centre, Wilhelmina Children s Hospital, PO Box 85090, 3508, AB, Utrecht, The Netherlands
    Hum Genet 118:58-66. 2005
    ..The association of the CTLA4 haplotype 2 with the high-risk HLA genotype in T1D and CD, which share DQ2 as the one of high-risk alleles, might provide a clue to understanding the common genetic background of AID...
  7. pmc Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation
    Linda Volkers
    Department of Medical Genetics, Division of Biomedical Genetics, and 2 Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, 3508 AB Utrecht, Netherlands
    J Gen Physiol 142:641-53. 2013
    ..Our results suggest that fever-induced temperatures exacerbate the gating defects of R859H or R865G mutants and may predispose mutation carriers to febrile seizures...
  8. doi request reprint Functional variants of Fc gamma receptor (FCGR2A) and FCGR3A are not associated with susceptibility to systemic sclerosis in a large European Study (EUSTAR)
    Behrooz Z Alizadeh
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    J Rheumatol 37:1673-9. 2010
    ..To investigate the possible role of FCGR2A 519A>G and FCGR3A 559A>C functional polymorphisms in the genetic predisposition to susceptibility to systemic sclerosis (SSc) or clinical phenotype...
  9. ncbi request reprint Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Genet Epidemiol 31:42-50. 2007
    ..Our findings suggest that the genes underlying the PPR1 and PPR2 susceptibility loci may have similar functions or act in the same biochemical pathway...
  10. ncbi request reprint Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13
    Dalila Pinto
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Hum Mol Genet 14:171-8. 2005
    ..Our study identified two susceptibility loci for PPR, which may be related to the underlying myoclonic epilepsy phenotype present in the families studied...
  11. pmc Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
    Linda Volkers
    Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur J Neurosci 34:1268-75. 2011
    ..1 gating. Interestingly, while loss of Na(v) 1.1 function is common in DS, the R865G mutation may cause DS by overall gain-of-function defects...
  12. pmc Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    Carolien G F de Kovel
    Section Complex Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Brain 133:23-32. 2010
    ..2 and 16p13.11 in epileptogenesis and strengthen the evidence that recurrent microdeletions at 15q11.2, 15q13.3 and 16p13.11 confer a pleiotropic susceptibility effect to a broad range of neuropsychiatric disorders...
  13. doi request reprint Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions
    Linda Volkers
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Neurosci Lett 462:24-9. 2009
    ....
  14. ncbi request reprint Genetic polymorphisms in susceptibility to Type 1 Diabetes
    Behrooz Z Alizadeh
    Complex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Clin Chim Acta 387:9-17. 2008
    ..Here we review the wealth of data on T1D and discuss the major genetic polymorphisms involved in the disease. We place some putative genetic risk factors in perspective and look at those still to be detected...
  15. pmc Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients
    Albertien M van Eerde
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    PLoS ONE 7:e31327. 2012
    ..Only the result of rs1800469 in TGFB1 hinted at association in our study. This is the first extensive study of common variants in the genes of the ureteric budding pathway and the genetic susceptibility to primary VUR...
  16. ncbi request reprint Evidence for linkage between juvenile myoclonic epilepsy-related idiopathic generalized epilepsy and 6p11-12 in Dutch families
    Dalila Pinto
    DBG Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
    Epilepsia 45:211-7. 2004
    ..3 region, 15q14, and 5q34. These results indicate locus heterogeneity or interpopulation differences, thus underlining the importance of replication studies...
  17. ncbi request reprint Association analysis of functional variants of the FcgRIIa and FcgRIIIa genes with type 1 diabetes, celiac disease and rheumatoid arthritis
    Behrooz Z Alizadeh
    Complex Genetics Section, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Hum Mol Genet 16:2552-9. 2007
    ..If replicated, our findings would suggest FcgRIIa*519G as a common risk factor for auto-immune diseases. This may have clinical implications with regard to efficacy or safety of antibody-based immuno-modulator therapies...
  18. pmc Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients
    Kim Boshuisen
    Department of Neurology and Neurosurgery, Rudolf Magnus Institute of Neurosciences, University Medical Center Utrecht, Heidelberglaan 100, PO Box 85500, 3508 GA, Utrecht, The Netherlands
    Transl Stroke Res 4:375-8. 2013
    ..86; 95% CI: 1.32-2.61, p<0.001). We did not replicate the previously found association between a polymorphism in ACVRL1 IVS3-35A>G and BAVM in Dutch patients. However, meta-analysis did not rule out a possible effect...