- E-postPal.Njolstad@uib.no
- Telefon+47 55 97 51 53
- BesøksadresseHaukeland universitetssykehus, Laboratoriebygget
- PostadressePostboks 78045020 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
- (2019). The homeobox factor Irx3 maintains adipogenic identity. Metabolism: Clinical and Experimental.
- (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. Behavior Genetics. 51-66.
- (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature Communications. 1-10.
- (2019). A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. Human Molecular Genetics. 3327-3338.
- (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.
- (2018). The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. Scientific Reports.
- (2018). Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. Pediatric Diabetes. 559-565.
- (2018). Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI. PLOS ONE. 1-16.
- (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 26-41.
- (2018). Prenatal iron exposure and childhood type 1 diabetes. Scientific Reports. 11 sider.
- (2018). Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. International Journal of Epidemiology. 417-426.
- (2018). Parental smoking and risk of childhood-onset type 1 diabetes. Epidemiology. 848-856.
- (2018). Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes. Diabetes. 1297-1309.
- (2018). ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 47-63.
- (2018). IRX5 regulates adipocyte amyloid precursor protein and mitochondrial respiration in obesity. International Journal of Obesity.
- (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.
- (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.
- (2017). The kynurenine:tryptophan ratio as a predictor of incident type 2 diabetes mellitus in individuals with coronary artery disease. Diabetologia. 1712-1721.
- (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.
- (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.
- (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.
- (2017). Rare and low-frequency coding variants alter human adult height. Nature. 186-190.
- (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.
- (2017). PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. Bioinformatics. 2042-2044.
- (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.
- (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.
- (2017). Infant feeding and risk of type 1 diabetes in two large scandinavian birth cohorts. Diabetes Care. 920-927.
- (2017). Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Scientific Data. 1-20.
- (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.
- (2017). Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. Diabetic Medicine. 56-63.
- (2016). The hypoglycemic phenotype is islet cell-autonomous in short-chain hydroxyacyl-CoA dehydrogenase-deficient mice. Diabetes. 1672-1678.
- (2016). The genetic architecture of type 2 diabetes. Nature. 41-47.
- (2016). The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. Molecular and Cellular Endocrinology. 83-91.
- (2016). Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. Clinical Genetics. 486-495.
- (2016). Secretin-stimulated MRI assessment of exocrine pancreatic function in patients with cystic fibrosis and healthy controls. Abdominal Radiology. 1-10.
- (2016). Prospective associations of systemic and urinary choline metabolites with incident type 2 diabetes. Clinical Chemistry. 755-765.
- (2016). PI3-kinase mutation linked to insulin and growth factor resistance in vivo. Journal of Clinical Investigation. 1401-1412.
- (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.
- (2016). Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. Clinical Genetics. 501-506.
- (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Medicine. 23 sider.
- (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 357-363.
- (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.
- (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. Journal of Biological Chemistry. 29097-29111.
- (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.
- (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.
- (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.
- (2013). Type 2 diabetes genes : present status and data from Norwegian studies. Norsk Epidemiologi. 9-22.
- (2013). Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. Pancreas. 1078-1084.
- (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 150-157.
- (2013). Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. Pediatric Diabetes. 473-480.
- (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.
- (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.
- (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
- (2012). HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatric Diabetes. e1-e5.
- (2012). Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatric Diabetes. 155-162.
- (2012). Exome sequencing and genetic testing for MODY. PLOS ONE. 8 sider.
- (2012). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. 431-436.
- (2009). Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 9-14.
- (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening. 2358-2361.
- (2008). Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. Pediatrisk Endokrinologi. 56-63.
- (2008). Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. Pediatrisk Endokrinologi. 37-43.
- (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
- (2008). EASD: genetikk of diabetes type 2. Diabetesforum. 4-5.
- (2007). Management of neonatal and infancy-onset diabetes mellitus. Endocrine Development. 94-105.
- (2007). Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. Pediatrisk Endokrinologi. 23-28.
- (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. New England Journal of Medicine. 467-477.
- (2006). Ny type diabetes. Diabetesforum. 20-21.
- (2006). ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatric Diabetes. 352-360.
- (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
- (2005). Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. Diabetic Medicine. 406-409.
- (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-72.
- (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-2972.
- (2005). Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO Journal. 2318-2330.
- (2005). Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. DNA and Cell Biology. 661-669.
- (2005). Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. Diabetic Medicine. 1012-1015.
- (2005). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 994-998.
- (2004). Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2713-2718.
- (2004). Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 221-227.
- (2004). Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. Clinical and Experimental Allergy. 201-206.
- (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.
- (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. Diabetes. 2854-2860.
- (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. Diabetes. 2854-2860.
- (2003). Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. Diabetes. 2854-2860.
- (2003). Klinisk molekylærmedisin(4): koblingsanalyser. Pediatrisk Endokrinologi. 34-38.
- (2003). Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. Pediatrisk Endokrinologi. 64-69.
- (2003). Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism (JCEM). 920-931.
- (2003). Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism (JCEM). 920-931.
- (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.
- (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.
- (2003). Forskere diskuterte diabetes. Diabetes for helsepersonell. 12-14.
- (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. Kidney International. 793-800.
- (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. Kidney International. 793-800.
- (2002). The genetic abnormality in the beta-cell determines the response to an oral glucose load. Diabetologia. 427-435.
- (2002). Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. Diabetic Medicine. 697-703.
- (2002). Klinisk molekylærmedisin:DNA-sekvensering. Pediatrisk Endokrinologi. 51-56.
- (2002). Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. Pediatrisk Endokrinologi. 23-26.
- (2002). Hunting for a hypoglyecemia gene:Severe neonatal hypoglyecemia in a consanguineuos family. American Journal of Medical Genetics. 40-46.
- (2002). Contributions to the MODY5 phenotype. The Journal of Inherited Metabolic Disease (JIMD). 1-2.
- (2001). Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris? Tidsskrift for Den norske legeforening. 612-614.
- (2001). Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. New England Journal of Medicine. 1588-1592.
- (2001). Når betacellens glukosesensor svikter. Diabetes. 58-59.
- (2001). Ny type diabetes: Medfødt diabetes kan nå knyttes til MODY. Diabetes for helsepersonell. 25-27.
- (2001). Neonatal diabetes mellitus due to complete glucokinase deficiency. New England Journal of Medicine. 1588-1592.
- (2001). MODY-prosjektet ved Haukeland Sykehus: fra forskning til diagnostikk. Diabetes for helsepersonell. 23-24.
- (2001). Klinisk molekylærmedisin (1):Diagnostikk av større delesjoner og rearrangementer. Pediatrisk Endokrinologi. 61-65.
- (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.
- (2000). MODY associated with two novel hepatocyte nuclear factor 1 alpha loss of function mutations. Biochemical and Biophysical Research Communications - BBRC. 792-798.
- (2000). Klinisk dysmorfologi: En oversikt. Pediatrisk Endokrinologi. 29-37.
- (2000). Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome? Human Genetics. 476-482.
- (2000). A simple test for the hot spot mutation P291fsinsC in MODY3. Diabetologia. 818-819.
- (2000). A simple test for the high-frequency P291 fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 818-819.
- (1999). Nå kartlegges MODY. Diabetes for helsepersonell. 24-25.
- (1999). Blandt mordere og Nobel-prisvinnere i Chicago. Tidsskrift for Den norske legeforening. 1164-1166.
- (1999). A novel syndrome of renal dysfunction, genital malformation and diabetes associated with mutation in hepatocyte nuclear factor-1ß. Human Molecular Genetics. 2001-2008.
- (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.
- (1998). Utredning ved mistanke om Cushing syndrom. Pediatrisk Endokrinologi. 67-78.
- (1998). Ultralydsundersøkele av genitalia interna hos jenter med pubertas precox. Pediatrisk Endokrinologi. 20-28.
- (1998). Ikke-insulinkrevende diabetes mellitus hos barn og unge voksne. Tidsskrift for Den norske legeforening. 1054-1057.
- (1998). Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. European Journal of Pediatrics. 498-501.
- (1998). Apert syndrom. Pediatrisk Endokrinologi. 29-23.
- (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.
- (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.
- (1997). Nyoppdaget diabetes mellitus hos barn. Pediatrisk Endokrinologi. 5-15.
- (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. Pediatric Neurology. 160-162.
- (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. Pediatric Neurology. 160-162.
- (1997). Ikke-insulinkrevende diabetis hos barn og unge voksne (MODY). Pediatrisk Endokrinologi. 27-34.
- (1997). Ikke insulin-krevende diabetes hos barn og unge voksne (MODY). Pediatrisk Endokrinologi. 27-34.
- (1997). Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood. 398-406.
- (1994). A large Norwegian family with beta-spectrin-associated hereditary spehrocytosis. Nucl Acids Res suppl Miami Biotech Short Rep. 24.
- (1992). Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. European Journal of Surgery. 521-526.
- (1992). The zebrafish homeobox gene Hox(zf-114): primary structure, expression pattern and evolutionary aspects. International Journal of Developmental Biology. 229-237.
- (1992). Structure and early embryonic expression of the zebrafish engrailed-2 gene. Mechanisms of Development. 51-62.
- (1992). Disease free and cause specific survival in patients with papillary thyroid carcinoma. A multifactorial analysis. European Journal of Surgery. 583-589.
- (1991). Thyroid carcinoma: Results from surgical treatment in 211consecutive patients. European Journal of Surgery. 521-526.
- (1991). Thyroid carcinoma. Results from a uniform surgical strategy 1971-1985. Acta Chirurgica Scandinavica. 521-526.
- (1991). Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. EMBO Journal. 799-807.
Vitenskapelig foredrag
- (2020). Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study.
- (2019). Functional characterization of diabetes gene variants is important for precision medicine .
- (2015). Causes of dealth in a cohort of childhood-onset type 1 diabetes diagnosed during 1973-2012. A Nationwide population-based study in Norway.
- (2010). Single gene disorders causing diabetes.
- (2010). Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?
- (2010). Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment.
- (2010). Monogenic diabetes: An example of translational medicine.
- (2010). Carboxyl-ester lipase and diabetes.
- (2010). CEL mutations and pancreatic dysfunction.
- (2005). Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency.
- (2005). A novel syndrome of diabetes and exocrine deficiency.
- (2002). Sikring av prøver ved alvorlig sykdomm og død.
- (2002). Searching for MODY6 in Norwegian diabetic subjects.
- (2002). Overvekt hos barn og unge: Økning? Behandling i almenpraksis?
- (2002). Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi.
- (2002). Molekylærgenetisk diagnostikk.
- (2002). MODY og type 2 diabetes hos barn og unge.
- (2002). MODY og nyfødt-diabetes.
- (2002). MODY and neonatal diabetes.
- (2002). Gynekomasti.
- (2002). Diabetes og genetiske defekter i beta-cellens nettverk av faktorer.
- (2002). Arvelig diabetes - også relevant for svangerskapsdiabetes?
- (2002). Adipositas.
- (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load.
- (2001). Permanent neonatal diabetes mellitus and MODY.
- (2001). Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach.
- (2001). A case of MODY5 with central nervous system involvement.
- (2000). Studies of HNF-1alfa mutations in Norwegian MODY3 families.
- (2000). Genetic and functional characterization of mutations in norwegian families with MODY diabetes.
- (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.
- (1999). Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young.
- (1999). Maturity onset diabetes of the young (MODY): A Norwegian experience.
- (1998). Mody 3 i en norsk familie.
- (1998). Maturity-onset diabetes of the young (MODY).
- (1998). MODY3 in a Norwegian family with severe diabetic eye complications.
- (1998). Kongenitt diabetes: Omtale av to tilfeller.
- (1998). Et nytt syndrom med Mody, progressiv ikke-diabetisk nefropati, genitale misdannelser, og mutasjon av hepatocytt nukleær transkripsjonsfaktor (HNF)-.
- (1998). A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b.
- (1998). A Norwegian family with MODY and a missense mutation, Val62Ala, in the glucokinase gene.
- (1997). Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2.
- (1996). Mutasjon i beta-spectrin genet i en stor familie fra Sunnmøre med here ditær sfærocytose.
- (1996). A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis.
- (1995). A large Norwegian family with beta-spectrin associated hereditary spherocytosis.
Sammendrag/abstract
- (2013). Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. Diabetologia. S152-S152.
- (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.
- (2010). Increasing incidence of childhood onset type 1 diabetes in Norway. Diabetologia. S142-S142.
- (2009). The Genotypes and Phenotypes of Diabetes. Journal of the Pancreas.
- (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Journal of Medical Genetics. S26-S26.
- (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.
- (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. Diabetologia. S123-S123.
- (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.
- (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. Diabetologia. S123-S124.
- (2008). Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. Hormone Research. 202-203.
- (2008). Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. Hormone Research. 41-41.
- (2008). Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. Diabetologia. S154-S154.
- (2007). Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. S123-S123.
- (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.
- (2004). Mutations of transglutaminase 2 and early onset Type 2 diabetes. Diabetologia. A137-A138.
Vitenskapelig oversiktsartikkel/review
- (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. Pancreatology (Print). 12-19.
- (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. Nature Reviews Endocrinology. 394-406.
- (2015). The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). International Journal of Endocrinology. 9 sider.
- (2012). The role of pancreatic imaging in monogenic diabetes mellitus. Nature Reviews Endocrinology. 148-159.
- (2011). Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Review of Molecular Diagnostics. 313-320.
- (2010). Fremskritt innen diabetesgenetikk. Tidsskrift for Den norske legeforening. 1145-1149.