Thore Egeland

Summary

Affiliation: University of Oslo
Country: Norway

Publications

  1. pmc Estimating haplotype frequency and coverage of databases
    Thore Egeland
    Institute of Forensic Medicine, University of Oslo, Oslo, Norway
    PLoS ONE 3:e3988. 2008
  2. doi request reprint On identification problems requiring linked autosomal markers
    Thore Egeland
    Department of Medical Genetics, Ulleval University Hospital, 0407 Oslo, Norway
    Forensic Sci Int Genet 2:219-25. 2008
  3. pmc A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, Kirkeveien 166, N 0407 Oslo, Norway
    Ann Rheum Dis 69:1471-4. 2010
  4. doi request reprint Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency
    Beate Skinningsrud
    Department of Medical Genetics, Ulleval University Hospital, University of Oslo, Kirkeveien 166, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 93:3310-7. 2008
  5. pmc Using object oriented bayesian networks to model linkage, linkage disequilibrium and mutations between STR markers
    Daniel Kling
    Department of Family Genetics, Norwegian Institute of Public Health, Oslo, Norway
    PLoS ONE 7:e43873. 2012
  6. ncbi request reprint A two-year prospective controlled study of bone mass and bone turnover in children with early juvenile idiopathic arthritis
    Gunhild Lien
    Rikshospitalet University Hospital, Oslo, Norway
    Arthritis Rheum 52:833-40. 2005
  7. doi request reprint Genome-wide linkage analysis with clustered SNP markers
    Kaja K Selmer
    Institute of Medical Genetics, University of Oslo, Oslo, Norway
    J Biomol Screen 14:92-6. 2009
  8. doi request reprint X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 94:4086-93. 2009
  9. pmc A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Kaja K Selmer
    Department and Institute of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
    Eur J Hum Genet 20:58-63. 2012
  10. ncbi request reprint Insulin resistance after renal transplantation: the effect of steroid dose reduction and withdrawal
    Karsten Midtvedt
    Section of Nephrology, Department of Medicine, Rikshospitalet University Hospital, University of Oslo, Oslo, Norway
    J Am Soc Nephrol 15:3233-9. 2004

Collaborators

Detail Information

Publications21

  1. pmc Estimating haplotype frequency and coverage of databases
    Thore Egeland
    Institute of Forensic Medicine, University of Oslo, Oslo, Norway
    PLoS ONE 3:e3988. 2008
    ..Finally, freeware and example data sets accompany the methods discussed in this paper: http://folk.uio.no/thoree/nhap/...
  2. doi request reprint On identification problems requiring linked autosomal markers
    Thore Egeland
    Department of Medical Genetics, Ulleval University Hospital, 0407 Oslo, Norway
    Forensic Sci Int Genet 2:219-25. 2008
    ..The main message of this paper is that linked autosomal markers deserve greater attention in forensic genetics and that the required laboratory and statistical analyses can be performed based on existing technology and freeware...
  3. pmc A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, Kirkeveien 166, N 0407 Oslo, Norway
    Ann Rheum Dis 69:1471-4. 2010
    ....
  4. doi request reprint Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency
    Beate Skinningsrud
    Department of Medical Genetics, Ulleval University Hospital, University of Oslo, Kirkeveien 166, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 93:3310-7. 2008
    ..In this study we aimed to investigate if loci found associated with common autoimmune diseases in recent genome-wide association studies also could be susceptibility loci for autoimmune Addison's disease (primary adrenal insufficiency)...
  5. pmc Using object oriented bayesian networks to model linkage, linkage disequilibrium and mutations between STR markers
    Daniel Kling
    Department of Family Genetics, Norwegian Institute of Public Health, Oslo, Norway
    PLoS ONE 7:e43873. 2012
    ..The networks are freely available at http://arken.umb.no/~dakl/BayesianNetworks.)...
  6. ncbi request reprint A two-year prospective controlled study of bone mass and bone turnover in children with early juvenile idiopathic arthritis
    Gunhild Lien
    Rikshospitalet University Hospital, Oslo, Norway
    Arthritis Rheum 52:833-40. 2005
    ..To explore early changes and predictors of bone mass in children with juvenile idiopathic arthritis (JIA) in order to identify patients who will develop bone mass reductions...
  7. doi request reprint Genome-wide linkage analysis with clustered SNP markers
    Kaja K Selmer
    Institute of Medical Genetics, University of Oslo, Oslo, Norway
    J Biomol Screen 14:92-6. 2009
    ..However, genotyping is less automated in GeneMapper version 4.0 than in the Affymetrix software and thus more time consuming...
  8. doi request reprint X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
    Beate Skinningsrud
    Department of Medical Genetics, Oslo University Hospital, Ulleval, N 0407 Oslo, Norway
    J Clin Endocrinol Metab 94:4086-93. 2009
    ..OBJECTIVE/PATIENTS: Four males in a family were affected by AHCH. Our aim was to locate the genetic cause of their disease, knowing that they had no mutation in the obvious candidate gene, NR0B1...
  9. pmc A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Kaja K Selmer
    Department and Institute of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
    Eur J Hum Genet 20:58-63. 2012
    ..Our findings describe a mild form of MPS IIIB and illustrate the diagnostic potential of targeted NGS in Mendelian disease with unknown aetiology...
  10. ncbi request reprint Insulin resistance after renal transplantation: the effect of steroid dose reduction and withdrawal
    Karsten Midtvedt
    Section of Nephrology, Department of Medicine, Rikshospitalet University Hospital, University of Oslo, Oslo, Norway
    J Am Soc Nephrol 15:3233-9. 2004
    ..206). Lowering daily prednisolone toward 5 mg/d has beneficial effects on insulin action after renal transplantation, but withdrawal of 5 mg prednisolone may not influence IS significantly...
  11. doi request reprint Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease
    Beate Skinningsrud
    Institute of Medical Genetics, University of Oslo, Department of Medical Genetics, Ullevaal University Hospital, Oslo, Norway
    Eur J Hum Genet 16:977-82. 2008
    ..In conclusion, the 1858T-allele is a PTPN22 genetic susceptibility factor for autoimmune AD. Other rare variants in PTPN22 do occur, and may also be involved in the pathogenesis...
  12. ncbi request reprint The DNA database search controversy revisited: bridging the Bayesian-frequentist gap
    Geir Storvik
    Department of Mathematics, University of Oslo, Centre for Ecological and Evolutionary Synthesis, University of Oslo, Oslo, Norway
    Biometrics 63:922-5. 2007
    ..This way of viewing the problem bridges the gap between the Bayesian and frequentist approaches. At the same time it indicates that the np rule should not be used to quantify evidence...
  13. doi request reprint FamLink--a user friendly software for linkage calculations in family genetics
    Daniel Kling
    Norwegian Institute of Public Health, Department of Family Genetics, Oslo, Norway
    Forensic Sci Int Genet 6:616-20. 2012
    ..In addition, FamLink can simulate genotype data in order to study the effect of accounting for linkage or not. We demonstrate the importance of taking linkage properly into account using examples and real cases...
  14. ncbi request reprint T cell-specific T-box transcription factor haplotype is associated with allergic asthma in children
    Monica Cheng Munthe-Kaas
    Department of Paediatrics, Ulleval University Hospital, Oslo, Norway
    J Allergy Clin Immunol 121:51-6. 2008
    ..Asthma and allergy are common complex diseases characterized by T(H)2-mediated inflammation...
  15. pmc A statistical framework for the interpretation of mtDNA mixtures: forensic and medical applications
    Thore Egeland
    Department of Chemistry, Biotechnology and Food Science, Norwegian University of Life Sciences, Oslo, Norway
    PLoS ONE 6:e26723. 2011
    ..Such mixtures may be generated by the tumor, but they could also originate in vitro due to inadvertent contamination or a sample mix-up...
  16. pmc SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
    Gregor D Gilfillan
    Department of Medical Genetics, Ulleval University Hospital, NO 0407 Oslo, Norway
    Am J Hum Genet 82:1003-10. 2008
    ..Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations...
  17. ncbi request reprint Breech birth at term: vaginal delivery or elective cesarean section? A systematic review of the literature by a Norwegian review team
    Lise Lund Haheim
    Norwegian Center for Health Technology Assessment, Oslo, Norway
    Acta Obstet Gynecol Scand 83:126-30. 2004
  18. ncbi request reprint Estimating the number of contributors to a DNA profile
    Thore Egeland
    Biostatistics, Rikshospitalet University Hospital, 0027, Oslo, Norway
    Int J Legal Med 117:271-5. 2003
    ..We address this problem by first approaching the more general problem of estimating the number of contributors to a stain. In addition we discuss how the markers should be selected and how many are required...
  19. ncbi request reprint Determinants of insulin secretion after renal transplantation
    Jøran Hjelmesaeth
    Department of Medicine, Section of Nephrology, Rikshospitalet, University of Oslo, Oslo, Norway
    Metabolism 52:573-8. 2003
    ..CMV disease and treatment with furosemide may also negatively influence pancreatic insulin release in renal transplant recipients...
  20. ncbi request reprint The influence of patient characteristics, disease variables, and HLA alleles on the development of radiographically evident sacroiliitis in juvenile idiopathic arthritis
    Berit Flatø
    Center for Rheumatic Diseases, Rikshospitalet University Hospital, Oslo, Norway
    Arthritis Rheum 46:986-94. 2002
    ....
  21. ncbi request reprint Possible role of mtDNA mutations in sudden infant death
    Siri H Opdal
    Institute of Forensic Medicine, University of Oslo, Oslo, Norway
    Pediatr Neurol 27:23-9. 2002
    ..Furthermore, mtDNA mutations may play a role in some patients with sudden unexpected infant death that was unexplained or thought to be caused by infection...