- 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
- (2022). Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects. Nature Genetics. 581-592.
- (2022). The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice. Pancreatology (Print). 1099-1111.
- (2022). Subtype-specific surface proteins on adipose tissue macrophages and their association to obesity-induced insulin resistance. Frontiers in Endocrinology. 1-13.
- (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. Journal of Biological Chemistry. 14 sider.
- (2022). Social and genetic associations with educational performance in a Scandinavian welfare state. Proceedings of the National Academy of Sciences of the United States of America.
- (2022). Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study. Fertility and Sterility. 180-190.
- (2022). Relation of health-related quality of life with glycemic control and use of diabetes technology in children and adolescents with type 1 diabetes: Results from a national population based study. Journal of Diabetes Research. 1-14.
- (2022). Placental weight centiles adjusted for age, parity and fetal sex. Placenta. 87-94.
- (2022). On the importance of parenting in externalizing disorders: an evaluation of indirect genetic effects in families. Journal of Child Psychology and Psychiatry. 1186-1195.
- (2022). Modeling assortative mating and genetic similarities between partners, siblings, and in-laws. Nature Communications. 10 sider.
- (2022). Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young. Diabetes Research and Clinical Practice.
- (2022). Characterization of the genetic architecture of infant and early childhood body mass index. Nature Metabolism. 344-358.
- (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. Bioinformatics. 1876-1883.
- (2021). Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population. Schizophrenia Bulletin. 1179-1189.
- (2021). Early manifestations of genetic risk for neurodevelopmental disorders. Journal of Child Psychology and Psychiatry. 1-10.
- (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. European Journal of Human Genetics. 205-215.
- (2019). The homeobox factor Irx3 maintains adipogenic identity. Metabolism: Clinical and Experimental.
- (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. GigaScience. 1-13.
- (2019). Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. Pediatric Diabetes. 728-735.
- (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. Behavior Genetics. 51-66.
- (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). Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. International Journal of Epidemiology. 417-426.
- (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.
- (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.
- (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). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. Diabetes. 335-346.
- (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). 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.
- (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature. 285-291.
- (2015). Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. JAMA pediatrics. 1-8.
- (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism (JCEM). E1540-E1549.
- (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. Journal of Clinical Endocrinology and Metabolism (JCEM). E767-E775.
- (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Medicine. 23 sider.
- (2015). All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973–2013. Diabetologia. 1779-1786.
- (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. Nature Genetics. 518-522.
- (2014). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 47-64.
- (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). 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). 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). 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). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
- (2012). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. 431-436.
- (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). 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.
- (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.
- (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). 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). 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.
- (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). 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). Ny type diabetes. Diabetesforum. 20-21.
- (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 54-62.
- (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
- (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. 2968-72.
- (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). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 994-998.
- (2003). Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. Diabetes. 2854-2860.
- (2001). N EONATAL D IABETES M ELLITUS D UE TO C OMPLETE G LUCOKINASE D EFICIENCY. New England Journal of Medicine. 1588-1592.
- (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.
- (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). 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). 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
- (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: the MoBaPsychGen_v1 pipeline.
- (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
- (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. European Neuropsychopharmacology.
- (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.