Hjem
Pål Rasmus Njølstads bilde

Pål Rasmus Njølstad

Instituttleder
  • E-postPal.Njolstad@uib.no
  • Telefon+47 55 97 51 53
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
  • Postadresse
    Postboks 7804
    5020 Bergen
Vitenskapelig artikkel
  • 2019. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 1-13.
  • 2019. Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes. Diabetes Care. 553-559.
  • 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. Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. Pediatric Diabetes. 559-565.
  • 2016. The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. Molecular and Cellular Endocrinology. 83-91.
  • 2016. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. Clinical Genetics. 501-506.
  • 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. E1540-E1549.
  • 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. 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. 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. 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. 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.
  • 2011. The role of pancreatic imaging in monogenic diabetes. Nature Reviews Endocrinology.
  • 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. 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. Journal of Inherited Metabolic Disease.
  • 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. 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. 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. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 54-62.
  • 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. 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. 920-931.
  • 2003. Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 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. 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. 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. Journal of Inherited Metabolic Disease. 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. N EONATAL D IABETES M ELLITUS D UE TO C OMPLETE G LUCOKINASE D EFICIENCY. 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
  • 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. 12-19.
  • 2016. Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. 394-406.
  • 2015. The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). 9 sider.
  • 2012. The role of pancreatic imaging in monogenic diabetes mellitus. 148-159.
  • 2011. Role of molecular genetics in transforming diagnosis of diabetes mellitus. 313-320.
  • 2010. Fremskritt innen diabetesgenetikk. 1145-1149.

Se fullstendig oversikt over publikasjoner i CRIStin.