Genomes and Genes
Affiliation: University of Oslo
- Estimating haplotype frequency and coverage of databasesThore 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/...
- On identification problems requiring linked autosomal markersThore 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...
- A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritisBeate Skinningsrud
Department of Medical Genetics, Oslo University Hospital, Ulleval, Kirkeveien 166, N 0407 Oslo, Norway
Ann Rheum Dis 69:1471-4. 2010....
- Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiencyBeate 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)...
- Using object oriented bayesian networks to model linkage, linkage disequilibrium and mutations between STR markersDaniel 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.)...
- A two-year prospective controlled study of bone mass and bone turnover in children with early juvenile idiopathic arthritisGunhild 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...
- Genome-wide linkage analysis with clustered SNP markersKaja 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...
- X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) geneBeate 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...
- A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regionsKaja 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...
- Insulin resistance after renal transplantation: the effect of steroid dose reduction and withdrawalKarsten 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...
- Mutation screening of PTPN22: association of the 1858T-allele with Addison's diseaseBeate 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...
- The DNA database search controversy revisited: bridging the Bayesian-frequentist gapGeir 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...
- FamLink--a user friendly software for linkage calculations in family geneticsDaniel 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...
- T cell-specific T-box transcription factor haplotype is associated with allergic asthma in childrenMonica 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...
- A statistical framework for the interpretation of mtDNA mixtures: forensic and medical applicationsThore 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...
- SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGregor 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...
- Breech birth at term: vaginal delivery or elective cesarean section? A systematic review of the literature by a Norwegian review teamLise Lund Haheim
Norwegian Center for Health Technology Assessment, Oslo, Norway
Acta Obstet Gynecol Scand 83:126-30. 2004
- Estimating the number of contributors to a DNA profileThore 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...
- Determinants of insulin secretion after renal transplantationJøran 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...
- The influence of patient characteristics, disease variables, and HLA alleles on the development of radiographically evident sacroiliitis in juvenile idiopathic arthritisBerit Flatø
Center for Rheumatic Diseases, Rikshospitalet University Hospital, Oslo, Norway
Arthritis Rheum 46:986-94. 2002....
- Possible role of mtDNA mutations in sudden infant deathSiri 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...