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Pål Rasmus Njølstad

Head of Department
  • E-mailPal.Njolstad@uib.no
  • Phone+47 55 97 51 53
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen
Academic article
  • Show author(s) 2019. The homeobox factor Irx3 maintains adipogenic identity. Metabolism: Clinical and Experimental.
  • Show author(s) 2019. Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. Behavior Genetics. 51-66.
  • Show author(s) 2019. Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature Communications. 1-10.
  • Show author(s) 2019. A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Human Molecular Genetics. 3327-3338.
  • Show author(s) 2018. The mucinous domain of pancreatic carboxyl-ester lipase (CEL) contains core 1/core 2 O-glycans that can be modified by ABO blood group determinants. Journal of Biological Chemistry. 19476-19491.
  • Show author(s) 2018. The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. Scientific Reports.
  • Show author(s) 2018. Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. Pediatric Diabetes. 559-565.
  • Show author(s) 2018. Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI. PLOS ONE. 1-16.
  • Show author(s) 2018. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 26-41.
  • Show author(s) 2018. Prenatal iron exposure and childhood type 1 diabetes. Scientific Reports. 11 pages.
  • Show author(s) 2018. Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. International Journal of Epidemiology. 417-426.
  • Show author(s) 2018. Parental smoking and risk of childhood-onset type 1 diabetes. Epidemiology. 848-856.
  • Show author(s) 2018. Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes. Diabetes. 1297-1309.
  • Show author(s) 2018. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 47-63.
  • Show author(s) 2018. IRX5 regulates adipocyte amyloid precursor protein and mitochondrial respiration in obesity. International Journal of Obesity.
  • Show author(s) 2018. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Human Molecular Genetics. 742-756.
  • Show author(s) 2018. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. The Lancet Diabetes and Endocrinology. 637-646.
  • Show author(s) 2017. The kynurenine:tryptophan ratio as a predictor of incident type 2 diabetes mellitus in individuals with coronary artery disease. Diabetologia. 1712-1721.
  • Show author(s) 2017. The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. Diabetes Research and Clinical Practice. 142-149.
  • Show author(s) 2017. Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. Diabetologia. 625-635.
  • Show author(s) 2017. Serum acylcarnitines and risk of cardiovascular death and acute myocardial infarction in patients with stable angina pectoris. Journal of the American Heart Association (JAHA). 1-28.
  • Show author(s) 2017. Rare and low-frequency coding variants alter human adult height. Nature. 186-190.
  • Show author(s) 2017. Plasma immunological markers in pregnancy and cord blood: A possible link between macrophage chemo-attractants and risk of childhood type 1 diabetes. American journal of reproductive immunology. 11 pages.
  • Show author(s) 2017. PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. Bioinformatics. 2042-2044.
  • Show author(s) 2017. Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. Molecular and Cellular Endocrinology. 146-157.
  • Show author(s) 2017. Iris malformation and anterior segment dysgenesis in mice and humans with a mutation in PI 3-Kinase. Investigative Ophthalmology and Visual Science. 3100-3106.
  • Show author(s) 2017. Infant feeding and risk of type 1 diabetes in two large scandinavian birth cohorts. Diabetes Care. 920-927.
  • Show author(s) 2017. Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
  • Show author(s) 2017. Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 1-20.
  • Show author(s) 2017. Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. Pancreatology (Print). 83-88.
  • Show author(s) 2017. Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. Diabetic Medicine. 56-63.
  • Show author(s) 2016. The hypoglycemic phenotype is islet cell-autonomous in short-chain hydroxyacyl-CoA dehydrogenase-deficient mice. Diabetes. 1672-1678.
  • Show author(s) 2016. The genetic architecture of type 2 diabetes. Nature. 41-47.
  • Show author(s) 2016. The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. Molecular and Cellular Endocrinology. 83-91.
  • Show author(s) 2016. Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. Clinical Genetics. 486-495.
  • Show author(s) 2016. Secretin-stimulated MRI assessment of exocrine pancreatic function in patients with cystic fibrosis and healthy controls. Abdominal Radiology. 1-10.
  • Show author(s) 2016. Prospective associations of systemic and urinary choline metabolites with incident type 2 diabetes. Clinical Chemistry. 755-765.
  • Show author(s) 2016. PI3-kinase mutation linked to insulin and growth factor resistance in vivo. Journal of Clinical Investigation. 1401-1412.
  • Show author(s) 2016. Length of variable numbers of tandem repeats in the carboxyl ester lipase (CEL) gene may confer susceptibility to alcoholic liver cirrhosis but not alcoholic chronic pancreatitis. PLOS ONE.
  • Show author(s) 2016. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. Clinical Genetics. 501-506.
  • Show author(s) 2015. Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Medicine. 23 pages.
  • Show author(s) 2014. GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology. 55-65.
  • Show author(s) 2014. Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. Journal of Biological Chemistry. 29097-29111.
  • Show author(s) 2014. Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. Journal of the American Medical Association (JAMA). 2305-2314.
  • Show author(s) 2014. Assessment of Exocrine Pancreatic Function by Secretin-Stimulated Magnetic Resonance Cholangiopancreaticography and Diffusion-Weighted Imaging in Healthy Controls. Journal of Magnetic Resonance Imaging. 448-454.
  • Show author(s) 2013. Type 2 diabetes genes : present status and data from Norwegian studies. Norsk Epidemiologi. 9-22.
  • Show author(s) 2013. Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. Pancreas. 1078-1084.
  • Show author(s) 2013. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 150-157.
  • Show author(s) 2013. Monogenetic diabetes mellitus in Norway :. Norsk Epidemiologi. 55-60.
  • Show author(s) 2013. Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. Pediatric Diabetes. 473-480.
  • Show author(s) 2013. Exocrine pancreatic function in hepatocyte nuclear factor 1 beta-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. Diabetic Medicine. 946-955.
  • Show author(s) 2013. Do eating behaviors in the general population account for country variance in glycemic control among adolescents with diabetes: the Hvidoere Study Group and the Health Behaviour in School-Aged Children study. Pediatric Diabetes. 554-561.
  • Show author(s) 2013. A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
  • Show author(s) 2012. HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatric Diabetes. e1-e5.
  • Show author(s) 2012. Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatric Diabetes. 155-162.
  • Show author(s) 2012. Exome sequencing and genetic testing for MODY. PLOS ONE. 8 pages.
  • Show author(s) 2012. CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. 431-436.
  • Show author(s) 2009. Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 9-14.
  • Show author(s) 2009. Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening. 2358-2361.
  • Show author(s) 2008. Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. Pediatrisk Endokrinologi. 56-63.
  • Show author(s) 2008. Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. Pediatrisk Endokrinologi. 37-43.
  • Show author(s) 2008. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
  • Show author(s) 2008. EASD: genetikk of diabetes type 2. Diabetesforum. 4-5.
  • Show author(s) 2007. Management of neonatal and infancy-onset diabetes mellitus. Endocrine Development. 94-105.
  • Show author(s) 2007. Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. Pediatrisk Endokrinologi. 23-28.
  • Show author(s) 2006. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. New England Journal of Medicine. 467-477.
  • Show author(s) 2006. Ny type diabetes. Diabetesforum. 20-21.
  • Show author(s) 2006. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatric Diabetes. 352-360.
  • Show author(s) 2006. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
  • Show author(s) 2005. Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. Diabetic Medicine. 406-409.
  • Show author(s) 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-72.
  • Show author(s) 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-2972.
  • Show author(s) 2005. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO Journal. 2318-2330.
  • Show author(s) 2005. Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. DNA and Cell Biology. 661-669.
  • Show author(s) 2005. Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. Diabetic Medicine. 1012-1015.
  • Show author(s) 2005. Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 994-998.
  • Show author(s) 2004. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2713-2718.
  • Show author(s) 2004. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 221-227.
  • Show author(s) 2004. Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. Clinical and Experimental Allergy. 201-206.
  • Show author(s) 2004. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine. 1838-1849.
  • Show author(s) 2003. Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. Diabetes. 2854-2860.
  • Show author(s) 2003. Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. Diabetes. 2854-2860.
  • Show author(s) 2003. Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. Diabetes. 2854-2860.
  • Show author(s) 2003. Klinisk molekylærmedisin(4): koblingsanalyser. Pediatrisk Endokrinologi. 34-38.
  • Show author(s) 2003. Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. Pediatrisk Endokrinologi. 64-69.
  • Show author(s) 2003. Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 920-931.
  • Show author(s) 2003. Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 920-931.
  • Show author(s) 2003. Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. Journal of Diabetes and its Complications (JDC). 369-373.
  • Show author(s) 2003. Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. Journal of Diabetes and its Complications (JDC). 369-373.
  • Show author(s) 2003. Forskere diskuterte diabetes. Diabetes for helsepersonell. 12-14.
  • Show author(s) 2003. Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. Kidney International. 793-800.
  • Show author(s) 2003. Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. Kidney International. 793-800.
  • Show author(s) 2002. The genetic abnormality in the beta-cell determines the response to an oral glucose load. Diabetologia. 427-435.
  • Show author(s) 2002. Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. Diabetic Medicine. 697-703.
  • Show author(s) 2002. Klinisk molekylærmedisin:DNA-sekvensering. Pediatrisk Endokrinologi. 51-56.
  • Show author(s) 2002. Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. Pediatrisk Endokrinologi. 23-26.
  • Show author(s) 2002. Hunting for a hypoglyecemia gene:Severe neonatal hypoglyecemia in a consanguineuos family. American Journal of Medical Genetics. 40-46.
  • Show author(s) 2002. Contributions to the MODY5 phenotype. The Journal of Inherited Metabolic Disease (JIMD). 1-2.
  • Show author(s) 2001. Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris? Tidsskrift for Den norske legeforening. 612-614.
  • Show author(s) 2001. Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. New England Journal of Medicine. 1588-1592.
  • Show author(s) 2001. Når betacellens glukosesensor svikter. Diabetes. 58-59.
  • Show author(s) 2001. Ny type diabetes: Medfødt diabetes kan nå knyttes til MODY. Diabetes for helsepersonell. 25-27.
  • Show author(s) 2001. Neonatal diabetes mellitus due to complete glucokinase deficiency. New England Journal of Medicine. 1588-1592.
  • Show author(s) 2001. MODY-prosjektet ved Haukeland Sykehus: fra forskning til diagnostikk. Diabetes for helsepersonell. 23-24.
  • Show author(s) 2001. Klinisk molekylærmedisin (1):Diagnostikk av større delesjoner og rearrangementer. Pediatrisk Endokrinologi. 61-65.
  • Show author(s) 2000. MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). Biochemical and Biophysical Research Communications - BBRC. 792-798.
  • Show author(s) 2000. MODY associated with two novel hepatocyte nuclear factor 1 alpha loss of function mutations. Biochemical and Biophysical Research Communications - BBRC. 792-798.
  • Show author(s) 2000. Klinisk dysmorfologi: En oversikt. Pediatrisk Endokrinologi. 29-37.
  • Show author(s) 2000. Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome? Human Genetics. 476-482.
  • Show author(s) 2000. A simple test for the hot spot mutation P291fsinsC in MODY3. Diabetologia. 818-819.
  • Show author(s) 2000. A simple test for the high-frequency P291 fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 818-819.
  • Show author(s) 1999. Nå kartlegges MODY. Diabetes for helsepersonell. 24-25.
  • Show author(s) 1999. Blandt mordere og Nobel-prisvinnere i Chicago. Tidsskrift for Den norske legeforening. 1164-1166.
  • Show author(s) 1999. A novel syndrome of renal dysfunction, genital malformation and diabetes associated with mutation in hepatocyte nuclear factor-1ß. Human Molecular Genetics. 2001-2008.
  • Show author(s) 1999. A novel syndrome of diabetes mellitus, renal dysfunction and genital malforation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Human Molecular Genetics. 2001-2008.
  • Show author(s) 1998. Utredning ved mistanke om Cushing syndrom. Pediatrisk Endokrinologi. 67-78.
  • Show author(s) 1998. Ultralydsundersøkele av genitalia interna hos jenter med pubertas precox. Pediatrisk Endokrinologi. 20-28.
  • Show author(s) 1998. Ikke-insulinkrevende diabetes mellitus hos barn og unge voksne. Tidsskrift for Den norske legeforening. 1054-1057.
  • Show author(s) 1998. Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. European Journal of Pediatrics. 498-501.
  • Show author(s) 1998. Apert syndrom. Pediatrisk Endokrinologi. 29-23.
  • Show author(s) 1998. A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young (MODY). Acta Paediatrica. 853-856.
  • Show author(s) 1998. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. American Journal of Human Genetics. 1282-1293.
  • Show author(s) 1997. Nyoppdaget diabetes mellitus hos barn. Pediatrisk Endokrinologi. 5-15.
  • Show author(s) 1997. Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. Pediatric Neurology. 160-162.
  • Show author(s) 1997. Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. Pediatric Neurology. 160-162.
  • Show author(s) 1997. Ikke-insulinkrevende diabetis hos barn og unge voksne (MODY). Pediatrisk Endokrinologi. 27-34.
  • Show author(s) 1997. Ikke insulin-krevende diabetes hos barn og unge voksne (MODY). Pediatrisk Endokrinologi. 27-34.
  • Show author(s) 1997. Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood. 398-406.
  • Show author(s) 1994. A large Norwegian family with beta-spectrin-associated hereditary spehrocytosis. Nucl Acids Res suppl Miami Biotech Short Rep. 24.
  • Show author(s) 1992. Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. European Journal of Surgery. 521-526.
  • Show author(s) 1992. The zebrafish homeobox gene Hox(zf-114): primary structure, expression pattern and evolutionary aspects. International Journal of Developmental Biology. 229-237.
  • Show author(s) 1992. Structure and early embryonic expression of the zebrafish engrailed-2 gene. Mechanisms of Development. 51-62.
  • Show author(s) 1992. Disease free and cause specific survival in patients with papillary thyroid carcinoma. A multifactorial analysis. European Journal of Surgery. 583-589.
  • Show author(s) 1991. Thyroid carcinoma: Results from surgical treatment in 211consecutive patients. European Journal of Surgery. 521-526.
  • Show author(s) 1991. Thyroid carcinoma. Results from a uniform surgical strategy 1971-1985. Acta Chirurgica Scandinavica. 521-526.
  • Show author(s) 1991. Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. EMBO Journal. 799-807.
Academic lecture
  • Show author(s) 2020. Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study.
  • Show author(s) 2019. Functional characterization of diabetes gene variants is important for precision medicine .
  • Show author(s) 2015. Causes of dealth in a cohort of childhood-onset type 1 diabetes diagnosed during 1973-2012. A Nationwide population-based study in Norway.
  • Show author(s) 2010. Single gene disorders causing diabetes.
  • Show author(s) 2010. Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?
  • Show author(s) 2010. Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment.
  • Show author(s) 2010. Monogenic diabetes: An example of translational medicine.
  • Show author(s) 2010. Carboxyl-ester lipase and diabetes.
  • Show author(s) 2010. CEL mutations and pancreatic dysfunction.
  • Show author(s) 2005. Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency.
  • Show author(s) 2005. A novel syndrome of diabetes and exocrine deficiency.
  • Show author(s) 2002. Sikring av prøver ved alvorlig sykdomm og død.
  • Show author(s) 2002. Searching for MODY6 in Norwegian diabetic subjects.
  • Show author(s) 2002. Overvekt hos barn og unge: Økning? Behandling i almenpraksis?
  • Show author(s) 2002. Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi.
  • Show author(s) 2002. Molekylærgenetisk diagnostikk.
  • Show author(s) 2002. MODY og type 2 diabetes hos barn og unge.
  • Show author(s) 2002. MODY og nyfødt-diabetes.
  • Show author(s) 2002. MODY and neonatal diabetes.
  • Show author(s) 2002. Gynekomasti.
  • Show author(s) 2002. Diabetes og genetiske defekter i beta-cellens nettverk av faktorer.
  • Show author(s) 2002. Arvelig diabetes - også relevant for svangerskapsdiabetes?
  • Show author(s) 2002. Adipositas.
  • Show author(s) 2001. The genetic abnormality in the beta-cell determines the response to an oral glucose load.
  • Show author(s) 2001. Permanent neonatal diabetes mellitus and MODY.
  • Show author(s) 2001. Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach.
  • Show author(s) 2001. A case of MODY5 with central nervous system involvement.
  • Show author(s) 2000. Studies of HNF-1alfa mutations in Norwegian MODY3 families.
  • Show author(s) 2000. Genetic and functional characterization of mutations in norwegian families with MODY diabetes.
  • Show author(s) 1999. Progressive renal dysfunction, maturity-onset diabetes of the young and genital malformations in a family with a twenty-five amino acid deletion in the DNA-binding domain of hepatocyte nuclear factor-1ß.
  • Show author(s) 1999. Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young.
  • Show author(s) 1999. Maturity onset diabetes of the young (MODY): A Norwegian experience.
  • Show author(s) 1998. Mody 3 i en norsk familie.
  • Show author(s) 1998. Maturity-onset diabetes of the young (MODY).
  • Show author(s) 1998. MODY3 in a Norwegian family with severe diabetic eye complications.
  • Show author(s) 1998. Kongenitt diabetes: Omtale av to tilfeller.
  • Show author(s) 1998. Et nytt syndrom med Mody, progressiv ikke-diabetisk nefropati, genitale misdannelser, og mutasjon av hepatocytt nukleær transkripsjonsfaktor (HNF)-.
  • Show author(s) 1998. A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b.
  • Show author(s) 1998. A Norwegian family with MODY and a missense mutation, Val62Ala, in the glucokinase gene.
  • Show author(s) 1997. Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2.
  • Show author(s) 1996. Mutasjon i beta-spectrin genet i en stor familie fra Sunnmøre med here ditær sfærocytose.
  • Show author(s) 1996. A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis.
  • Show author(s) 1995. A large Norwegian family with beta-spectrin associated hereditary spherocytosis.
Abstract
  • Show author(s) 2013. Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. Diabetologia. S152-S152.
  • Show author(s) 2013. Assessment of exocrine pancreatic funtion by secretin-stimulated MRCP and DWI in healthy controls and in patients with monogenic diabetes. Acta Radiologica. 13-13.
  • Show author(s) 2010. Increasing incidence of childhood onset type 1 diabetes in Norway. Diabetologia. S142-S142.
  • Show author(s) 2009. The Genotypes and Phenotypes of Diabetes. Journal of the Pancreas.
  • Show author(s) 2009. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Journal of Medical Genetics. S26-S26.
  • Show author(s) 2008. The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. Diabetologia. S129-S129.
  • Show author(s) 2008. Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. Diabetologia. S123-S123.
  • Show author(s) 2008. SUR mutation in type 1 diabetes: autoimmunity prevents sulfonylurea rescue of diabetes caused by SUR1 mutation. Results from the Hvidore Study Group. Diabetologia. S116-S116.
  • Show author(s) 2008. Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. Diabetologia. S123-S124.
  • Show author(s) 2008. Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. Hormone Research. 202-203.
  • Show author(s) 2008. Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. Hormone Research. 41-41.
  • Show author(s) 2008. Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. Diabetologia. S154-S154.
  • Show author(s) 2007. Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. S123-S123.
  • Show author(s) 2005. Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. Biophysical Journal. 285A-285A.
  • Show author(s) 2004. Mutations of transglutaminase 2 and early onset Type 2 diabetes. Diabetologia. A137-A138.
Academic literature review
  • Show author(s) 2018. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. Pancreatology (Print). 12-19.
  • Show author(s) 2016. Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. Nature Reviews Endocrinology. 394-406.
  • Show author(s) 2015. The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). International Journal of Endocrinology. 9 pages.
  • Show author(s) 2012. The role of pancreatic imaging in monogenic diabetes mellitus. Nature Reviews Endocrinology. 148-159.
  • Show author(s) 2011. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Review of Molecular Diagnostics. 313-320.
  • Show author(s) 2010. Fremskritt innen diabetesgenetikk. Tidsskrift for Den norske legeforening. 1145-1149.

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