- E-postPal.Njolstad@uib.no
- Telefon+47 55 97 51 53
- BesøksadresseHaukeland universitetssykehus, Laboratoriebygget5009 Bergen
- 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
- (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). 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). The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology (Print). 29-32.
- (2013). Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. Pancreas. 1078-1084.
- (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry. 5951-5962.
- (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 150-157.
- (2013). Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia. 1512-1519.
- (2013). Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes. 1329-1337.
- (2013). Monogenetic diabetes mellitus in Norway :. Norsk Epidemiologi. 55-60.
- (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.
- (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). Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young. Journal of Biological Chemistry. 5353-5356.
- (2013). Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical Genetics. 439-445.
- (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.
- (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.
- (2013). Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (Maturity-Onset Diabetes of the young). PLOS ONE. 11 sider.
- (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
- (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.
- (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.
- (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.
- (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.
- (2010). Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. Diabetes. 266-271.
- (2010). Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. Pancreatology (Print). 467-476.
- (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Human Genetics. 55-64.
- (2010). Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 antibodies. BMC Endocrine Disorders.
- (2010). DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. European Journal of Pediatrics. 207-213.
- (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.
- (2009). The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clinical Genetics. 440-448.
- (2009). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 33-42.
- (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.
- (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 389-398.
- (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.
- (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 120-124.
- (2009). A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. Genes and Immunity. 181-187.
- (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Annals of the Rheumatic Diseases.
- (2008). Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. The Journal of Inherited Metabolic Disease (JIMD).
- (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). 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.
- (2008). Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. Journal of Clinical Endocrinology and Metabolism (JCEM). 3505-3509.
- (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 775-781.
- (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. Diabetes Care. 306-310.
- (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
- (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
- (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
- (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. Diabetic Medicine. 782-787.
- (2008). Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. 589-596.
- (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.
- (2008). EASD: genetikk of diabetes type 2. Diabetesforum. 4-5.
- (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes. 442-449.
- (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.
- (2008). Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? Diabetic Medicine. 463-468.
- (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.
- (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity.
- (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.
- (2007). Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged < 15 years in Norway 1973-1982 and 1989-2003. Diabetes Care. 884-889.
- (2007). Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-Ester lipase. Diabetes. 444-449.
- (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.
- (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.
- (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.
- (2007). Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry. 22757-22764.
- (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). 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.
- (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
- (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
- (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. Journal of Autoimmunity. 140-144.
- (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics. 262-269.
- (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.
- (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. 2968-2972.
- (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-72.
- (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). 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.
- (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
- (2021). Epigenetic control of adipogenesis by Irx3.
- (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
- (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. International Journal of Epidemiology. 1 sider.
- (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. JOP. 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.