Hjem
  • E-postPal.Njolstad@uib.no
  • Telefon+47 55 97 51 53
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
  • Postadresse
    Postboks 7804
    5020 Bergen

Professor dr. med. Pål Rasmus Njølstad er interessert i barndiabetes og monogen diabetes. Han har beskrevet nye diabetestyper inkludert diabetes og eksokrin dysfunksjon på grunn av mutasjoner i CEL og funnet at nyfødtdiabetes kan behandles med sulfonylureatabletter i stedet for insulin. Njølstad er instituttleder for Klinisk institutt 2, Universitetet i Bergen, overlege ved Barne og ungdomsklinikken, Haukeland universitetssykehus, og leder for Senter for diabetesforskning. Han koordinerer et forslag til et norsk senter for fremragende forskning, Center for Diabetes Mechanisms. Han har hatt forskningsopphold ved University of Chicago, Harvard Medical School, Broad Institute of Harvard and MIT, og Massachusetts General Hospital. Han har oppnådd konkurranseutsatte forskningsmidler, f.eks. fra European Research Council (ERC AdG) og Novo Nordisk Foundation, mottatt flere internasjonale priser, og er medlem av Norsk vitenskapsakademi.

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

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