Hjem
  • E-postpal.njolstad@uib.no
  • Telefon+47 55 97 51 53
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
    5009 Bergen
  • 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) (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. Bioinformatics. 1876-1883.
  • Vis forfatter(e) (2021). Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population. Schizophrenia Bulletin. 1179-1189.
  • Vis forfatter(e) (2021). Early manifestations of genetic risk for neurodevelopmental disorders. Journal of Child Psychology and Psychiatry. 1-10.
  • Vis forfatter(e) (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. GigaScience. 1-13.
  • Vis forfatter(e) (2019). Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. Pediatric Diabetes. 728-735.
  • 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) (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). 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). Lack of Association between Maternal or Neonatal Vitamin D Status and Risk of Childhood Type 1 Diabetes: A Scandinavian Case-Cohort Study. American Journal of Epidemiology. 1174-1181.
  • 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) (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). 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). 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) (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature. 285-291.
  • Vis forfatter(e) (2015). Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. JAMA pediatrics. 1-8.
  • Vis forfatter(e) (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism (JCEM). E1540-E1549.
  • Vis forfatter(e) (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. Journal of Clinical Endocrinology and Metabolism (JCEM). E767-E775.
  • 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) (2015). All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973–2013. Diabetologia. 1779-1786.
  • Vis forfatter(e) (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nature Genetics. 518-522.
  • Vis forfatter(e) (2014). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 47-64.
  • Vis forfatter(e) (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 357-363.
  • 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). Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid. Diabetes. 259-269.
  • 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). 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). 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). 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). Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 1380-1385.
  • Vis forfatter(e) (2013). An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. Acta Diabetologica. 801-805.
  • 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). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. 431-436.
  • Vis forfatter(e) (2011). FTO, type 2 diabetes, and weight gain throughout adult life A meta-analysis of 41,504 subjects from the Scandinavian HUNT, MDC, and MPP studies. Diabetes. 1637-1644.
  • Vis forfatter(e) (2011). Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). BMC Medical Genetics. 6 sider.
  • Vis forfatter(e) (2011). Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal. 2372-2386.
  • Vis forfatter(e) (2010). Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005. Pediatric Diabetes. 271-278.
  • Vis forfatter(e) (2010). Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proceedings of the National Academy of Sciences of the United States of America. 775-780.
  • Vis forfatter(e) (2010). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Annals of the Rheumatic Diseases. 1471-1474.
  • Vis forfatter(e) (2009). The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clinical Genetics. 440-448.
  • Vis forfatter(e) (2009). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 33-42.
  • 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) (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 389-398.
  • Vis forfatter(e) (2009). Associations between physical activity, sedentary behavior, and glycemic control in a large cohort of adolescents with type 1 diabetes: the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 234-239.
  • Vis forfatter(e) (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 120-124.
  • Vis forfatter(e) (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Annals of the Rheumatic Diseases.
  • Vis forfatter(e) (2008). Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. The Journal of Inherited Metabolic Disease (JIMD).
  • Vis forfatter(e) (2008). The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes. 1745-1752.
  • Vis forfatter(e) (2008). Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. Journal of Clinical Endocrinology and Metabolism (JCEM). 3505-3509.
  • Vis forfatter(e) (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 775-781.
  • Vis forfatter(e) (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
  • 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). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
  • Vis forfatter(e) (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. Diabetic Medicine. 782-787.
  • Vis forfatter(e) (2008). Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. 589-596.
  • Vis forfatter(e) (2008). Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Diabetologia. 971-977.
  • Vis forfatter(e) (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes. 442-449.
  • Vis forfatter(e) (2008). Catalytic activation of human glucokinase by substrate binding - residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions. The FEBS Journal. 2467-2481.
  • Vis forfatter(e) (2008). Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? Diabetic Medicine. 463-468.
  • Vis forfatter(e) (2008). Activating glucokinase (GCK) Mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. European Journal of Endocrinology (EJE). 27-34.
  • Vis forfatter(e) (2007). Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians. Diabetes. 3112-3117.
  • 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) (2007). De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. Journal of Medical Genetics. 6 sider.
  • Vis forfatter(e) (2007). Continuing stability of center differences in pediatric diabetes care: Do advances in diabetes treatment improve outcome? The Hvidoere study group on childhood diabetes. Diabetes Care. 2245-2250.
  • Vis forfatter(e) (2007). Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry. 22757-22764.
  • 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). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 54-62.
  • 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). Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes and response to sulfonylurea therapy. Diabetes. 1731-1737.
  • 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) (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. Journal of Autoimmunity. 140-144.
  • Vis forfatter(e) (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics. 262-269.
  • Vis forfatter(e) (2006). A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes - Studies of HNF4A variants in the Norwegian MODY registry. Diabetes. 1899-1903.
  • 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. 2968-2972.
  • Vis forfatter(e) (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-72.
  • 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). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 994-998.
  • 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) (2001). Neonatal diabetes mellitus due to complete glucokinase deficiency. New England Journal of Medicine. 1588-1592.
  • Vis forfatter(e) (2001). N EONATAL D IABETES M ELLITUS D UE TO C OMPLETE G LUCOKINASE D EFICIENCY. New England Journal of Medicine. 1588-1592.
  • 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) (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) (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: the MoBaPsychGen_v1 pipeline.
  • Vis forfatter(e) (2021). Epigenetic control of adipogenesis by Irx3.
  • 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) (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. European Neuropsychopharmacology.
  • Vis forfatter(e) (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. International Journal of Epidemiology. 1 sider.
  • 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. JOP. 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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