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  • E-mailpal.njolstad@uib.no
  • Phone+47 55 97 51 53
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
    5009 Bergen
  • Postal Address
    Postboks 7804
    5020 Bergen

Pål Rasmus Njølstad, MD PhD, Njølstad´s is interested in childhood and monogenic diabetes having described new diabetes syndromes including diabetes and exocrine dysfunction due to mutations in CEL, and found that neonatal diabetes can be treated with sulfonylurea tablets instead of insulin. Njølstad is Professor and Head of Department of Clinical Medicine, University of Bergen, Consultant Physician at the Department of Pediatrics, Haukeland University Hospital, and Leader of Center for Diabetes Research coordinating a proposal for a Norwegian center of excellence, Center for Diabetes Mechanisms. He has had research stays at the University of Chicago, Harvard Medical School, Broad Institute of Harvard and MIT, and Massachusetts General Hospital. He has achieved competitive research funding, eg. from the European Research Council (ERC AdG) and the Novo Nordisk Foundation, has earned several international prizes, and is member of the Norwegian Society of Science and Letters. 

Academic article
  • 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). 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). 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.
  • 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) (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). 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). 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). 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) (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature. 285-291.
  • Show author(s) (2015). Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. JAMA pediatrics. 1-8.
  • Show author(s) (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism (JCEM). E1540-E1549.
  • Show author(s) (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. Journal of Clinical Endocrinology and Metabolism (JCEM). E767-E775.
  • 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) (2015). All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973–2013. Diabetologia. 1779-1786.
  • Show author(s) (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nature Genetics. 518-522.
  • Show author(s) (2014). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 47-64.
  • Show author(s) (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 357-363.
  • 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). 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.
  • 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). Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009. Pediatric Diabetes. 422-428.
  • 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). Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 1380-1385.
  • Show author(s) (2013). An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatric Diabetes. 466-472.
  • Show author(s) (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.
  • 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). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1705-1715.
  • Show author(s) (2012). Exome sequencing and genetic testing for MODY. PLOS ONE. 8 pages.
  • Show author(s) (2011). The role of pancreatic imaging in monogenic diabetes. Nature Reviews Endocrinology.
  • Show author(s) (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.
  • Show author(s) (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 pages.
  • Show author(s) (2011). Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY) A PROTEIN MISFOLDING DISEASE. Journal of Biological Chemistry. 34593-34605.
  • Show author(s) (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.
  • Show author(s) (2011). Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. Clinical Chemistry. 1188-1195.
  • Show author(s) (2011). A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia. 2801-2810.
  • Show author(s) (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.
  • Show author(s) (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.
  • Show author(s) (2009). The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clinical Genetics. 440-448.
  • Show author(s) (2009). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 33-42.
  • 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) (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 389-398.
  • Show author(s) (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.
  • Show author(s) (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Annals of the Rheumatic Diseases.
  • Show author(s) (2008). Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. The Journal of Inherited Metabolic Disease (JIMD).
  • Show author(s) (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.
  • Show author(s) (2008). Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. Journal of Clinical Endocrinology and Metabolism (JCEM). 3505-3509.
  • Show author(s) (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 775-781.
  • Show author(s) (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
  • 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). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
  • Show author(s) (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. Diabetic Medicine. 782-787.
  • Show author(s) (2008). Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. 589-596.
  • Show author(s) (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.
  • Show author(s) (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes. 442-449.
  • Show author(s) (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.
  • Show author(s) (2008). Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? Diabetic Medicine. 463-468.
  • Show author(s) (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.
  • Show author(s) (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.
  • 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) (2007). De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. Journal of Medical Genetics. 6 pages.
  • Show author(s) (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.
  • Show author(s) (2007). Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry. 22757-22764.
  • 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). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 54-62.
  • 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). 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.
  • 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) (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
  • Show author(s) (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. Journal of Autoimmunity. 140-144.
  • Show author(s) (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics. 262-269.
  • Show author(s) (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.
  • 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. 2968-2972.
  • Show author(s) (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-72.
  • 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). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 994-998.
  • 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) (2002). Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. Diabetic Medicine. 697-703.
  • Show author(s) (2001). Neonatal diabetes mellitus due to complete glucokinase deficiency. New England Journal of Medicine. 1588-1592.
  • 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) (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) (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: the MoBaPsychGen_v1 pipeline.
  • Show author(s) (2021). Epigenetic control of adipogenesis by Irx3.
  • 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) (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. European Neuropsychopharmacology.
  • Show author(s) (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. International Journal of Epidemiology. 1 pages.
  • 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. JOP. 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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