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

• Anny Gravdal Svanbring; Steven J. Wilhelm; Ivan Abbedissen et al. (2025). The MODY-Causing Mutation of the Human Carboxyl Ester Lipase Gene (CEL) Triggers Chronic Pancreatitis But Not Diabetes in Mice. (ekstern lenke)
• Pernille Svalastoga; Alba Kaci; Janne Molnes et al. (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. (ekstern lenke)
• Ksenia Lavrichenko; Øyvind Helgeland; Pål Rasmus Njølstad et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (ekstern lenke)
• JV Sagen; S Odili; L. Bjørkhaug et al. (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (ekstern lenke)
• Hill F. Ip; Camiel M. van der Laan; Eva M. L. Krapohl et al. (2021). Genetic association study of childhood aggression across raters, instruments, and age. (ekstern lenke)
• Anders Molven; GE Matre; M Duran et al. (2004). Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. (ekstern lenke)
• AL Gloyn; ER Pearson; JF Antcliff et al. (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (ekstern lenke)
• Triin Laisk; Ana Luiza G. Soares; Teresa Ferreira et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (ekstern lenke)
• Adrian K.K. Teo; Rebecca Windmueller; Bente Berg Johansson et al. (2013). Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. (ekstern lenke)
• Helge Ræder; Fiona E. McAllister; Erling Tjora et al. (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. (ekstern lenke)
• Zhen Qiao; Jie Zheng; Øyvind Helgeland et al. (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. (ekstern lenke)
• Lise Bjørkhaug; Pål Rasmus Njølstad; Oddmund Søvik et al. (2001). N EONATAL D IABETES M ELLITUS D UE TO C OMPLETE G LUCOKINASE D EFICIENCY. (ekstern lenke)
• Gaute K Wathle; Erling Tjora; Lars Ersland et al. (2014). Assessment of Exocrine Pancreatic Function by Secretin-Stimulated Magnetic Resonance Cholangiopancreaticography and Diffusion-Weighted Imaging in Healthy Controls. (ekstern lenke)
• P.R. Njølstad; T Lindner; Y Horikawa et al. (1999). A novel syndrome of renal dysfunction, genital malformation and diabetes associated with mutation in hepatocyte nuclear factor-1ß. (ekstern lenke)
• Sondre V. Meling; Erling Tjora; Heike Eichele et al. (2023). The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy. (ekstern lenke)
• Lene Bjerke Laborie; Deborah J.G. Mackay; I. Karen Temple et al. (2010). DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. (ekstern lenke)
• Anne L. Trewick; Julia S. El-Sayed Moustafa; Adam J. de Smith et al. (2011). Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. (ekstern lenke)
• Robin N. Beaumont; Christopher Flatley; Marc Vaudel et al. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. (ekstern lenke)
• Anders Molven; Oddmund Søvik; Charlotte von der Lippe et al. (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. (ekstern lenke)
• Janne Molnes; Lise Bjørkhaug; Oddmund Søvik et al. (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. (ekstern lenke)
• Ashley Budu-Aggrey; Anna Kilanowski; Maria K. Sobczyk et al. (2023). European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. (ekstern lenke)
• Timothy C Skinner; Karin S Lange; Hilary Hoey et al. (2018). Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. (ekstern lenke)
• Khadija el Jellas; Bente Berg Johansson; Karianne Fjeld et al. (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. (ekstern lenke)
• Helga Salvesen; Pål Rasmus Njølstad; Lars A. Akslen et al. (1992). Disease free and cause specific survival in patients with papillary thyroid carcinoma. A multifactorial analysis. (ekstern lenke)
• Dagfinn Aarskog; Pål Rasmus Njølstad; Robert Bjerknes (2000). Klinisk dysmorfologi: En oversikt. (ekstern lenke)
• Tone Sandal; Oddmund Søvik; Pål Rasmus Njølstad et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. (ekstern lenke)
• Ghadir Elias-Assad; Raunak Saab; Janne Molnes et al. (2021). Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family. (ekstern lenke)
• Erling Tjora; Gaute K Wathle; Trond Engjom et al. (2013). Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. (ekstern lenke)
• E Haan; H Sallis; Eivind Ystrøm et al. (2021). Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring. (ekstern lenke)
• Manuel Carrasco Fernandez; Chencheng Wang; Anne Mette Søviknes et al. (2022). Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. (ekstern lenke)
• Martin Arstad Isungset; Dalton C Conley; Henrik Daae Zachrisson et al. (2022). Social and genetic associations with educational performance in a Scandinavian welfare state. (ekstern lenke)
• Kishan Kumar Chudasama; Jonathan Winnay; Stefan Johansson et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (ekstern lenke)
• P. Due; Carine de Beaufort; MT Damsgaard et al. (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. (ekstern lenke)
• Hilary Hoey; Fergus Cameron; Harry Dorchy et al. (2009). Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. (ekstern lenke)
• Bente Berg Johansson; Henrik Underthun Irgens; Janne Molnes et al. (2017). Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry. (ekstern lenke)
• Elin Strand; Eva Ringdal Pedersen; Gard Frodahl Tveitevåg Svingen et al. (2017). Serum acylcarnitines and risk of cardiovascular death and acute myocardial infarction in patients with stable angina pectoris. (ekstern lenke)
• Anne Cathrine Thuesen; Fredrik Filip Stæger; Alba Kaci et al. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. (ekstern lenke)
• M Bjørnvold; SS Amundsen; Lars Christian Stene et al. (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. (ekstern lenke)
• Pål Rasmus Njølstad; Jørn Sagen (2003). Klinisk molekylærmedisin(4): koblingsanalyser. (ekstern lenke)
• Pål Rasmus Njølstad; Jørn Sagen; Lise Bjørkhaug et al. (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. (ekstern lenke)
• Oddmund Søvik; Øystein Aagenæs; Stig Åge Eide et al. (2012). Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. (ekstern lenke)
• Pål Rasmus Njølstad; B. N. Cockburn; G. I. Bell et al. (1998). A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young (MODY). (ekstern lenke)
• Sarrah Shahawy; Nathaniel Chan; Sian Ellard et al. (2011). A pathway to insulin independence in newborns and infants with diabetes. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik; Antonio Cuesta-Munoz et al. (2001). Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (2001). Når betacellens glukosesensor svikter. (ekstern lenke)
• Marie Holm Solheim; Allen C. Clermont; Jonathon N. Winnay et al. (2017). Iris malformation and anterior segment dysgenesis in mice and humans with a mutation in PI 3-Kinase. (ekstern lenke)
• Andrew T. Hattersley; Siri A.W. Greeley; Michel Polak et al. (2018). ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. (ekstern lenke)
• Oddmund Søvik; Pål Rasmus Njølstad; Hallvard Reigstad et al. (2001). Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris?. (ekstern lenke)
• Ng’weina Francis Magitta; AS Bøe; S Johansson et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (ekstern lenke)
• Jens Kristoffer Hertel; Stefan Johansson; Helge Ræder et al. (2011). Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). (ekstern lenke)
• Heiko Bratke; Hanna D. Margeirsdottir; Jörg Assmus et al. (2021). Does Current Diabetes Technology Improve Metabolic Control? A Cross-Sectional Study on the Use of Insulin Pumps and Continuous Glucose Monitoring Devices in a Nationwide Pediatric Population. (ekstern lenke)
• Jørn V. Sagen; Lise Bjørkhaug; Janne Molnes et al. (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. (ekstern lenke)
• P.R. Njølstad; Ola Skjeldal; E. Agsteribbe et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (ekstern lenke)
• Jørn V. Sagen; Pål Rasmus Njølstad; Oddmund Søvik (2002). Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. (ekstern lenke)
• Luis Francisco Hernández Sánchez; Bram Burger; Carlos Horro Marcos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (ekstern lenke)
• Jørn Sagen; Stella Odili; Lise Bjørkhaug et al. (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (ekstern lenke)
• Karen Christina Walker; Ina O. Specht; Vibeke Hjortdal et al. (2025). Circulating 25-Hydroxyvitamin D Levels During Pregnancy and Risk of Congenital Heart Diseases: Multivariable and Mendelian Randomization Analyses Using 3 Birth Cohorts. (ekstern lenke)
• Aishwarya Pavithram; Haichen Zhang; Kristin A. Maloney et al. (2024). In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY. (ekstern lenke)
• Pål Rasmus Njølstad (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. (ekstern lenke)
• Pål Rasmus Njølstad (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (ekstern lenke)
• Stefan Johansson; Henrik Underthun Irgens; Kishankumar Chudasama et al. (2012). Exome sequencing and genetic testing for MODY. (ekstern lenke)
• Jonathon N. Winnay; Marie Holm Solheim; Ercument Dirice et al. (2016). PI3-kinase mutation linked to insulin and growth factor resistance in vivo. (ekstern lenke)
• Lene Bjerke Laborie; Oddmund Søvik; Pål Rasmus Njølstad (2007). Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. (ekstern lenke)
• Deborah J.G. Mackay; Susanne Eriksen Boonen; Jill Clayton-Smith et al. (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. (ekstern lenke)
• Tom H Lindner; Pål Rasmus Njølstad; Y Horikawa et al. (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. (ekstern lenke)
• Bente Berg Johansson; Karianne Fjeld; Marie Holm Solheim et al. (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (ekstern lenke)
• Jens Kristoffer Hertel; Stefan Johansson; H Ræder et al. (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). (ekstern lenke)
• Nicolai Andre Lund-Blix; German Tapia; Karl Staffan Mårild et al. (2020). Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study. (ekstern lenke)
• Andrew Hattersley; Jan Bruining; Julian Shield et al. (2009). The diagnosis and management of monogenic diabetes in children and adolescents. (ekstern lenke)
• Alvaro Hernaez Camba; Yunsung Lee; Christian Magnus Page et al. (2023). Impaired glucose tolerance and cardiovascular risk factors in relation to infertility: A Mendelian randomization analysis in the Norwegian Mother, Father, and Child Cohort Study. (ekstern lenke)
• Lise Bjørkhaug; Oddmund Søvik; Graeme I. Bell et al. (2000). A simple test for the hot spot mutation P291fsinsC in MODY3. (ekstern lenke)
• Magali Avila; David A. Dyment; Jørn V. Sagen et al. (2016). Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. (ekstern lenke)
• Alvaro Hernaez Camba; Robyn E Wootton; Christian Magnus Page et al. (2022). Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study. (ekstern lenke)
• Nicolai Andre Lund-Blix; Anne A. Bjerregaard; German Tapia et al. (2024). No association between long-chain n-3 fatty acid intake during pregnancy and risk of type 1 diabetes in offspring in two large Scandinavian pregnancy cohorts. (ekstern lenke)
• Henrik Underthun Irgens; Karianne Fjeld; Bente Berg Johansson et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (ekstern lenke)
• Laura Kind; Janne Molnes; Erling Tjora et al. (2024). Molecular mechanism of HNF-1A–mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes. (ekstern lenke)
• Lise Bj. Gundersen; Andre Bratland; Pål Rasmus Njølstad et al. (2005). Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. (ekstern lenke)
• Ingunn Bratland Romuld; Tine-Lise Kalleklev; Janne Molnes et al. (2021). Impact of overweight on glucose homeostasis in MODY2 and MODY3. (ekstern lenke)
• Jason Flannick; Nicola L. Beer; Alexander G. Bick et al. (2013). Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. (ekstern lenke)
• Jan-Inge Bjune; Laurence Dyer; Gro Vatne Røsland et al. (2019). The homeobox factor Irx3 maintains adipogenic identity. (ekstern lenke)
• Anders Molven; Pål Rasmus Njølstad; Anders Fjose (1991). Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. (ekstern lenke)
• Ragna Bugge Askeland; Laurie J. Hannigan; Helga Ask et al. (2021). Early manifestations of genetic risk for neurodevelopmental disorders. (ekstern lenke)
• Karianne Fjeld; Sebastian Beer; Marianne Johnstone et al. (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. (ekstern lenke)
• Karianne Fjeld; Emmanuelle Masson; Jin-Huan Lin et al. (2020). Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. (ekstern lenke)
• Deirdre K. Tobias; Jordi Merino; Abrar Ahmad et al. (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. (ekstern lenke)
• Christoffer Drabløs Velde; Hallvard Reigstad; Erling Tjora et al. (2023). Medfødt hyperinsulinisme. (ekstern lenke)
• Maria Christine Magnus; German Tapia; Sjurdur Frodi Olsen et al. (2018). Parental smoking and risk of childhood-onset type 1 diabetes. (ekstern lenke)
• Bente Berg Johansson; Janniche Torsvik; Lise Bjørkhaug et al. (2011). Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY) A PROTEIN MISFOLDING DISEASE. (ekstern lenke)
• Pamela Bowman; Åsta Nordsveen Sulen; Fabrizio Barbetti et al. (2018). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. (ekstern lenke)
• Elizabeth W. Diemer; Alexandra Havdahl; Ole Andreassen et al. (2023). Bounding the average causal effect in Mendelian randomisation studies with multiple proposed instruments: An application to prenatal alcohol exposure and attention deficit hyperactivity disorder. (ekstern lenke)
• Pål Rasmus Njølstad; Anders Molven (2003). Forskere diskuterte diabetes. (ekstern lenke)
• L Bjørkhaug; Jørn V. Sagen; P Thorsby et al. (2003). Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. (ekstern lenke)
• Ksenia Kuznetsova; Jakub Vasicek; Dafni Skiadopoulou et al. (2024). Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes. (ekstern lenke)
• Christoffer Drabløs Velde; Janne Molnes; Siren Berland et al. (2025). Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study. (ekstern lenke)
• Lise Bj. Gundersen; Stefan Johansson; Helge Ræder et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (ekstern lenke)
• Laeya Abdoli Najmi; Ingvild Aukrust; Jason Flannick et al. (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. (ekstern lenke)
• Robert Bjerknes; Karen Rosendahl; K. Gjelland et al. (1998). Ultralydsundersøkele av genitalia interna hos jenter med pubertas precox. (ekstern lenke)
• E. Nazli Gonc; Burcu Bulum Ozturk; Ingfrid S. Haldorsen et al. (2012). HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik; B. N. Cockburn et al. (1998). Ikke-insulinkrevende diabetes mellitus hos barn og unge voksne. (ekstern lenke)
• Pål Rasmus Njølstad; Robert Bjerknes; Dagfinn Aarskog (1998). Apert syndrom. (ekstern lenke)
• Jan-Inge Bjune; Christine Haugen; Oddrun Anita Gudbrandsen et al. (2018). IRX5 regulates adipocyte amyloid precursor protein and mitochondrial respiration in obesity. (ekstern lenke)
• Jens Kristoffer Hertel; Stefan Johansson; Emily Sonestedt et al. (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. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (2001). Ny type diabetes: Medfødt diabetes kan nå knyttes til MODY. (ekstern lenke)
• Amanda M. Hughes; Eleanor Sanderson; Tim Morris et al. (2022). Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study. (ekstern lenke)
• Suzanne Vogelezang; Jonathan P. Bradfield; Tarunveer S. Ahluwalia et al. (2020). Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. (ekstern lenke)
• Marta R. Moksnes; Ailin F. Hansen; Brooke N. Wolford et al. (2024). A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans. (ekstern lenke)
• Jana Malikova; Alba Kaci; Petra Dusatkova et al. (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. (ekstern lenke)
• Eirini Marouli; Mariaelisa Graff; Carolina Medina-Gomez et al. (2017). Rare and low-frequency coding variants alter human adult height. (ekstern lenke)
• Naim Shehadeh; D. Bakri; R Gershoni-Baruch et al. (2005). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). (ekstern lenke)
• Adnan Madzak; Trond Engjom; Gaute Kjellevold Wathle et al. (2016). Secretin-stimulated MRI assessment of exocrine pancreatic function in patients with cystic fibrosis and healthy controls. (ekstern lenke)
• Pål Rasmus Njølstad; Hans Geir Eiken; Jaran Apold (1994). A large Norwegian family with beta-spectrin-associated hereditary spehrocytosis. (ekstern lenke)
• Maria Negahdar; Ingvild Aukrust; Janne Molnes et al. (2014). GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. (ekstern lenke)
• Helga Salvesen; PR Njølstad (1999). Blandt mordere og Nobel-prisvinnere i Chicago. (ekstern lenke)
• Valérie Turcot; Yingchang Lu; Heather M. Highland et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (ekstern lenke)
• Fartein Ask Torvik; Espen Moen Eilertsen; Laurie John Hannigan et al. (2022). Modeling assortative mating and genetic similarities between partners, siblings, and in-laws. (ekstern lenke)
• Anders Molven; U Rishaug; G E Matre et al. (2002). Hunting for a hypoglyecemia gene:Severe neonatal hypoglyecemia in a consanguineuos family. (ekstern lenke)
• Espen Moen Eilertsen; Rosa Catherine Gillespie Cheesman; Ziada Ayorech et al. (2022). On the importance of parenting in externalizing disorders: an evaluation of indirect genetic effects in families. (ekstern lenke)
• Nicolai Andre Lund-Blix; Stine Dydensborg Sander; Ketil Størdal et al. (2017). Infant feeding and risk of type 1 diabetes in two large scandinavian birth cohorts. (ekstern lenke)
• Ewan R. Pearson; Isabelle Flechtner; Pål Rasmus Njølstad et al. (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. (ekstern lenke)
• Lise Bjørkhaug; Janne Molnes; Oddmund Søvik et al. (2007). Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. (ekstern lenke)
• Geir Aamodt; Lars Christian Stene; Pål Njølstad et al. (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. (ekstern lenke)
• Heiko Holger Karl-Ernst Bratke; Eva Aaker Biringer; Anastasia Ushakova et al. (2024). Ten Years of Improving Glycemic Control in Pediatric Diabetes Care: Data From the Norwegian Childhood Diabetes Registry. (ekstern lenke)
• Laura Kind; Arne Raasakka; Janne Molnes et al. (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. (ekstern lenke)
• P.R. Njølstad; Oddmund Søvik (1997). Ikke-insulinkrevende diabetis hos barn og unge voksne (MODY). (ekstern lenke)
• Helge Raeder; Helge Ræder; Lise Bjorkhaug et al. (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. (ekstern lenke)
• Lise Bj. Gundersen; Jørn V. Sagen; P Thorsby et al. (2003). Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. (ekstern lenke)
• Jørn V. Sagen; Leif Bostad; Pål Rasmus Njølstad et al. (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. (ekstern lenke)
• Peter G F Swift; T. Chas Skinner; Carine E. de Beaufort et al. (2010). Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005. (ekstern lenke)
• A Molven; M Ringdal; AM Nordbø et al. (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (ekstern lenke)
• Henrik Underthun Irgens; Janne Molnes; Bente Berg Johansson et al. (2013). Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (ekstern lenke)
• Oddmund Søvik; Mojca Zerjav Tansek; Jørn V. Sagen et al. (2007). Management of neonatal and infancy-onset diabetes mellitus. (ekstern lenke)
• Janniche Torsvik; Bente Berg Johansson; Monica Dalva et al. (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. (ekstern lenke)
• Helge Ræder; Pål Rasmus Njølstad (2006). Ny type diabetes. (ekstern lenke)
• L. Bjørkhaug; Stefan Johansson; Helge Ræder et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (ekstern lenke)
• Helge Ræder; Ingfrid Salvesen Haldorsen; Lars Ersland et al. (2007). Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-Ester lipase. (ekstern lenke)
• Serge Eifes; Kishan Kumar Chudasama; Janne Molnes et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (ekstern lenke)
• Abrar Ahmad; Lee-Ling Lim; Mario Luca Morieri et al. (2024). Precision prognostics for cardiovascular disease in Type 2 diabetes: a systematic review and meta-analysis. (ekstern lenke)
• Steffen U. Thorsen; Karl Staffan Mårild; Sjurdur Frodi Olsen et al. (2018). Lack of Association between Maternal or Neonatal Vitamin D Status and Risk of Childhood Type 1 Diabetes: A Scandinavian Case-Cohort Study. (ekstern lenke)
• Jørn V. Sagen; Maren E. Baumann; Helga Salvesen et al. (2005). Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. (ekstern lenke)
• Ge Zhang; Jonas Bacelis; Candice Lengyel et al. (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. (ekstern lenke)
• S Jahnavi; V Poovazhagi; V Mohan et al. (2013). Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. (ekstern lenke)
• Shannon D'Urso; Gunn-Helen Øiseth Moen; Liang-Dar Hwang et al. (2023). Intrauterine Growth and Offspring Neurodevelopmental Traits A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa). (ekstern lenke)
• Xueping Liu; Dorte Helenius; Line Skotte et al. (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. (ekstern lenke)
• Helge Ræder; Mette Vesterhus; Abdelfattah El Ouaamari et al. (2013). Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (Maturity-Onset Diabetes of the young). (ekstern lenke)
• Maria Negahdar; Ingvild Aukrust; Bente Berg Johansson et al. (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. (ekstern lenke)
• F Lacbawan; BD Solomon; E Roessler et al. (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. (ekstern lenke)
• Rosa Cheesman; Espen Moen Eilertsen; Yasmin I. Ahmadzadeh et al. (2020). How important are parents in the development of child anxiety and depression? A genomic analysis of parent-offspring trios in the Norwegian Mother Father and Child Cohort Study (MoBa). (ekstern lenke)
• Henrik B.T. Christesen; Nicholas D. Tribble; Anders Molven et al. (2008). Activating glucokinase (GCK) Mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. (ekstern lenke)
• Oddmund Søvik; Petur Juliusson; Eirik V. Hansen et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Stefan Johansson et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik; GI Bell et al. (2000). A simple test for the high-frequency P291 fsinsC mutation in the HNF1 alpha/MODY3 gene. (ekstern lenke)
• Helga Salvesen; Pål Rasmus Njølstad; Lars A. Akslen et al. (1992). Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. (ekstern lenke)
• Monica Dalva Valvatne; Ida Marie Kjærefjord Lavik; Khadija el Jellas et al. (2020). Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells. (ekstern lenke)
• Jonathon N. Winnay; Marie Holm Solheim; Masaji Sakaguchi et al. (2020). Inhibition of the PI 3-kinase pathway disrupts the unfolded protein response and reduces sensitivity to ER stress-dependent apoptosis. (ekstern lenke)
• Wubet Worku Takele; Kimberly K. Vesco; Jami Josefson et al. (2024). Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis. (ekstern lenke)
• Jakub Vasicek; Ksenia Kuznetsova; Dafni Skiadopoulou et al. (2024). ProHap enables human proteomic database generation accounting for population diversity. (ekstern lenke)
• Oddmund Søvik; Suzanne Schubbert; Gunnar Houge et al. (2007). De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. (ekstern lenke)
• W Y So; M C Ng; Y Horikawa et al. (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (ekstern lenke)
• Jørn V. Sagen; Leif Bostad; Pål Rasmus Njølstad et al. (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. (ekstern lenke)
• Anja Ragvin; Enrico Moro; David Fredman et al. (2010). Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. (ekstern lenke)
• Maria Christine Magnus; Sjurdur Frodi Olsen; Charlotta Granström et al. (2015). Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. (ekstern lenke)
• Vibeke Gagnum; Lars Christian Stene; Trond Geir Jenssen et al. (2017). Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. (ekstern lenke)
• Maria Christine Magnus; Sjurdur Frodi Olsen; Charlotta Granström et al. (2018). Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. (ekstern lenke)
• Sondre V. Meling; Erling Tjora; Heike Eichele et al. (2023). Rectal sensitivity correlated with gastrointestinal-mediated glucose disposal, but not the incretin effect. (ekstern lenke)
• Anders Molven; Jennifer Hollister-Lock; Jiang Hu et al. (2016). The hypoglycemic phenotype is islet cell-autonomous in short-chain hydroxyacyl-CoA dehydrogenase-deficient mice. (ekstern lenke)
• Simranjeet Kaur; Aashiq H. Mirza; Caroline A. Brorsson et al. (2016). The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. (ekstern lenke)
• Fergus Cameron; Carine de Beaufort; HJ Aanstoot et al. (2013). Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. (ekstern lenke)
• German Tapia; Tommi Suvitaival; Linda Ahonen et al. (2021). Prediction of type 1 diabetes at birth: Cord blood metabolites vs genetic risk score in the Norwegian mother, father, and child cohort. (ekstern lenke)
• Katherine A. Kentistou; Lena R. Kaisinger; Stasa Stankovic et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (ekstern lenke)
• Jason Flannick; G Thorleifsson; N Beer et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (ekstern lenke)
• Ingfrid Salvesen Haldorsen; Mette Vesterhus; Helge Ræder et al. (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. (ekstern lenke)
• Jamie L. Felton; Maria J. Redondo; Richard A. Oram et al. (2024). Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review. (ekstern lenke)
• A Stride; M Vaxillaire; T Tuomi et al. (2002). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Harald Aurlien et al. (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Amarnath J Kurpad et al. (2010). Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. (ekstern lenke)
• Laurie John Hannigan; Ragna Bugge Askeland; Helga Ask et al. (2021). Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population. (ekstern lenke)
• Beate Skinningsrud; Benedicte Alexandra Lie; Eystein Husebye et al. (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. (ekstern lenke)
• Karen Christina Walker; Ina O. Specht; Vibeke Hjortdal et al. (2025). Circulating 25-Hydroxyvitamin D Levels During Pregnancy and Risk of Congenital Heart Diseases: Multivariable and Mendelian Randomization Analyses Using 3 Birth Cohorts. (ekstern lenke)
• Aishwarya Pavithram; Haichen Zhang; Kristin A. Maloney et al. (2024). In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY. (ekstern lenke)
• Pål Rasmus Njølstad (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. (ekstern lenke)
• Pål Rasmus Njølstad (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (ekstern lenke)
• Stefan Johansson; Henrik Underthun Irgens; Kishankumar Chudasama et al. (2012). Exome sequencing and genetic testing for MODY. (ekstern lenke)
• Jonathon N. Winnay; Marie Holm Solheim; Ercument Dirice et al. (2016). PI3-kinase mutation linked to insulin and growth factor resistance in vivo. (ekstern lenke)
• Lene Bjerke Laborie; Oddmund Søvik; Pål Rasmus Njølstad (2007). Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. (ekstern lenke)
• Deborah J.G. Mackay; Susanne Eriksen Boonen; Jill Clayton-Smith et al. (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. (ekstern lenke)
• Tom H Lindner; Pål Rasmus Njølstad; Y Horikawa et al. (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. (ekstern lenke)
• Bente Berg Johansson; Karianne Fjeld; Marie Holm Solheim et al. (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (ekstern lenke)
• Jens Kristoffer Hertel; Stefan Johansson; H Ræder et al. (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). (ekstern lenke)
• Nicolai Andre Lund-Blix; German Tapia; Karl Staffan Mårild et al. (2020). Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study. (ekstern lenke)
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• Shannon D'Urso; Gunn-Helen Øiseth Moen; Liang-Dar Hwang et al. (2023). Intrauterine Growth and Offspring Neurodevelopmental Traits A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa). (ekstern lenke)
• Xueping Liu; Dorte Helenius; Line Skotte et al. (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. (ekstern lenke)
• Helge Ræder; Mette Vesterhus; Abdelfattah El Ouaamari et al. (2013). Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (Maturity-Onset Diabetes of the young). (ekstern lenke)
• Maria Negahdar; Ingvild Aukrust; Bente Berg Johansson et al. (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. (ekstern lenke)
• F Lacbawan; BD Solomon; E Roessler et al. (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. (ekstern lenke)
• Rosa Cheesman; Espen Moen Eilertsen; Yasmin I. Ahmadzadeh et al. (2020). How important are parents in the development of child anxiety and depression? A genomic analysis of parent-offspring trios in the Norwegian Mother Father and Child Cohort Study (MoBa). (ekstern lenke)
• Henrik B.T. Christesen; Nicholas D. Tribble; Anders Molven et al. (2008). Activating glucokinase (GCK) Mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. (ekstern lenke)
• Oddmund Søvik; Petur Juliusson; Eirik V. Hansen et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Stefan Johansson et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik; GI Bell et al. (2000). A simple test for the high-frequency P291 fsinsC mutation in the HNF1 alpha/MODY3 gene. (ekstern lenke)
• Helga Salvesen; Pål Rasmus Njølstad; Lars A. Akslen et al. (1992). Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. (ekstern lenke)
• Monica Dalva Valvatne; Ida Marie Kjærefjord Lavik; Khadija el Jellas et al. (2020). Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells. (ekstern lenke)
• Jonathon N. Winnay; Marie Holm Solheim; Masaji Sakaguchi et al. (2020). Inhibition of the PI 3-kinase pathway disrupts the unfolded protein response and reduces sensitivity to ER stress-dependent apoptosis. (ekstern lenke)
• Wubet Worku Takele; Kimberly K. Vesco; Jami Josefson et al. (2024). Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis. (ekstern lenke)
• Jakub Vasicek; Ksenia Kuznetsova; Dafni Skiadopoulou et al. (2024). ProHap enables human proteomic database generation accounting for population diversity. (ekstern lenke)
• Oddmund Søvik; Suzanne Schubbert; Gunnar Houge et al. (2007). De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. (ekstern lenke)
• W Y So; M C Ng; Y Horikawa et al. (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (ekstern lenke)
• Jørn V. Sagen; Leif Bostad; Pål Rasmus Njølstad et al. (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. (ekstern lenke)
• Anja Ragvin; Enrico Moro; David Fredman et al. (2010). Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. (ekstern lenke)
• Maria Christine Magnus; Sjurdur Frodi Olsen; Charlotta Granström et al. (2015). Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. (ekstern lenke)
• Vibeke Gagnum; Lars Christian Stene; Trond Geir Jenssen et al. (2017). Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. (ekstern lenke)
• Maria Christine Magnus; Sjurdur Frodi Olsen; Charlotta Granström et al. (2018). Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. (ekstern lenke)
• Sondre V. Meling; Erling Tjora; Heike Eichele et al. (2023). Rectal sensitivity correlated with gastrointestinal-mediated glucose disposal, but not the incretin effect. (ekstern lenke)
• Anders Molven; Jennifer Hollister-Lock; Jiang Hu et al. (2016). The hypoglycemic phenotype is islet cell-autonomous in short-chain hydroxyacyl-CoA dehydrogenase-deficient mice. (ekstern lenke)
• Simranjeet Kaur; Aashiq H. Mirza; Caroline A. Brorsson et al. (2016). The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. (ekstern lenke)
• Fergus Cameron; Carine de Beaufort; HJ Aanstoot et al. (2013). Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. (ekstern lenke)
• German Tapia; Tommi Suvitaival; Linda Ahonen et al. (2021). Prediction of type 1 diabetes at birth: Cord blood metabolites vs genetic risk score in the Norwegian mother, father, and child cohort. (ekstern lenke)
• Katherine A. Kentistou; Lena R. Kaisinger; Stasa Stankovic et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (ekstern lenke)
• Jason Flannick; G Thorleifsson; N Beer et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (ekstern lenke)
• Ingfrid Salvesen Haldorsen; Mette Vesterhus; Helge Ræder et al. (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. (ekstern lenke)
• Jamie L. Felton; Maria J. Redondo; Richard A. Oram et al. (2024). Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review. (ekstern lenke)
• A Stride; M Vaxillaire; T Tuomi et al. (2002). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Harald Aurlien et al. (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. (ekstern lenke)
• Mette Vesterhus; Helge Ræder; Amarnath J Kurpad et al. (2010). Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. (ekstern lenke)
• Laurie John Hannigan; Ragna Bugge Askeland; Helga Ask et al. (2021). Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population. (ekstern lenke)
• Beate Skinningsrud; Benedicte Alexandra Lie; Eystein Husebye et al. (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. (ekstern lenke)
• Camiel M. van der Laan; Hill F. Ip; Marijn Schipper et al. (2025). Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes. (ekstern lenke)
• Jørn V. Sagen; Lise Bjørkhaug; Bjørn Ivar Haukanes et al. (2017). The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. (ekstern lenke)
• Lars Christian Stene; G Joner; Pål Rasmus Njølstad (2004). Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. (ekstern lenke)
• Jørn V. Sagen; Helge Ræder; Eba Hathout et al. (2004). Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. (ekstern lenke)
• Monica Dalva; Khadija el Jellas; Solrun Steine et al. (2017). Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. (ekstern lenke)
• Heiko Bratke; Eva Biringer; Hanna Dis Margeirsdottir et al. (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. (ekstern lenke)
• Jan Åman; TC Skinner; Carine E. de Beaufort et al. (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. (ekstern lenke)
• Pål Rasmus Njølstad; Jørn V. Sagen; Lise Bjørkhaug et al. (2003). Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. (ekstern lenke)
• Mette Vesterhus; Ingfrid Salvesen Haldorsen; Helge Ræder et al. (2008). Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. (ekstern lenke)
• Ketil Størdal; Harry J. McArdle; Helen Hayes et al. (2018). Prenatal iron exposure and childhood type 1 diabetes. (ekstern lenke)
• Carine E. de Beaufort; Peter G F Swift; Chas T. Skinner et al. (2007). Continuing stability of center differences in pediatric diabetes care: Do advances in diabetes treatment improve outcome? The Hvidoere study group on childhood diabetes. (ekstern lenke)
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• Marit Bjørnvold; Monica Cheng Munthe-Kaas; Thore Egeland et al. (2009). A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. (ekstern lenke)
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• D. Johnson; S. H. Horsley; D. M. Moloney et al. (1998). A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. (ekstern lenke)
• Janniche Torsvik; Stefan Johansson; Anders Johansen et al. (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (ekstern lenke)
• Sven Pörksen; Lene Bjerke Laborie; Lotte B. Nielsen et al. (2010). Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 antibodies. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (1997). Ikke insulin-krevende diabetes hos barn og unge voksne (MODY). (ekstern lenke)
• Pål Rasmus Njølstad; Dagfinn Aarskog (2001). Klinisk molekylærmedisin (1):Diagnostikk av større delesjoner og rearrangementer. (ekstern lenke)
• Pål Rasmus Njølstad; Lars Fredrik Engebretsen; Anders Molven et al. (2001). MODY-prosjektet ved Haukeland Sykehus: fra forskning til diagnostikk. (ekstern lenke)
• Dinka Smajlagic; Ksenia Lavrichenko; Siren Berland et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (ekstern lenke)
• Duaa I. Olwi; Lena R. Kaisinger; Katherine A. Kentistou et al. (2024). Likely causal effects of insulin resistance and IGF-1 bioaction on childhood and adult adiposity: a Mendelian randomization study. (ekstern lenke)
• Karianne Fjeld; Anny Gravdal Svanbring; Ranveig Seim Brekke et al. (2022). The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice. (ekstern lenke)
• Marta H. Hernandez; Jacqueline Mallory Cohen; Karoline Hansen Skåra et al. (2024). Placental efflux transporters and antiseizure or antidepressant medication use impact birth weight in MoBa cohort. (ekstern lenke)
• Anny Gravdal Svanbring; Xunjun Xiao; Miriam Cnop et al. (2021). The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity. (ekstern lenke)
• P.R. Njølstad; Oddmund Søvik (1999). Nå kartlegges MODY. (ekstern lenke)
• Eirik Wilberg Rebnord; Elin Strand; Øivind Midttun et al. (2017). The kynurenine:tryptophan ratio as a predictor of incident type 2 diabetes mellitus in individuals with coronary artery disease. (ekstern lenke)
• Oddmund Søvik; J. Knudtzon; Robert Bjerknes et al. (1997). Nyoppdaget diabetes mellitus hos barn. (ekstern lenke)
• Stig Åge Eide; H Ræder; Helge Ræder et al. (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (ekstern lenke)
• Laura Kind; Mark Driver; Arne Raasakka et al. (2023). Structural properties of the HNF-1A transactivation domain. (ekstern lenke)
• Luis Francisco Hernandez Sanchez; Bram Burger; Rodrigo Alexander Castro Campos et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (ekstern lenke)
• Marko Tijardović; Tamara Štambuk; Agata Juszczak et al. (2022). Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young. (ekstern lenke)
• Berit Skretting Solberg; Liv Grimstvedt Kvalvik; Johanne Telnes Instanes et al. (2023). Maternal Fiber Intake During Pregnancy and Development of Attention-Deficit/Hyperactivity Disorder Symptoms Across Childhood: The Norwegian Mother, Father, and Child Cohort Study. (ekstern lenke)
• Oddmund Søvik; Jørn Sagen; Pål Rasmus Njølstad et al. (2002). Contributions to the MODY5 phenotype. (ekstern lenke)
• Karol Estrada; Ingvild Aukrust; Lise Bjørkhaug et al. (2014). Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. (ekstern lenke)
• Beate Skinningsrud; Benedicte Lie; Eystein S Husebye et al. (2010). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. (ekstern lenke)
• Dominik Kopczynski; Harald Barsnes; Pål Rasmus Njølstad et al. (2017). PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. (ekstern lenke)
• Andrew T. Hattersley; Jan Bruining; Julian Shield et al. (2006). ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (ekstern lenke)

Konferanseposter

• Pål Rasmus Njølstad; L Bjørkhaug; Y Horikawa et al. (2000). Characterization of mutations in Norwegian MODY families by genetic and functional analyses. (ekstern lenke)
• Alba Kaci; Pål Rasmus Njølstad; Ingvild Aukrust et al. (2017). The E3 SUMO ligase PIASy regulates the activity and stability of the transcription factor hepatocyte nuclear factor 1-alpha. (ekstern lenke)
• Alba Kaci; Janne Molnes; Lise Bjørkhaug et al. (2017). Functional characterization of all HNF4A variants in the Norwegian MODY and the Norwegian Childhood Diabetes Registries. (ekstern lenke)
• Laeya Abdoli Najmi; Sara Althari; Lise Bjørkhaug et al. (2017). Developing high throughput assays for functional classification of novel missense variants in HNF1A. (ekstern lenke)
• Jørn Sagen; L Bostad; Pål Rasmus Njølstad et al. (2002). The kidney disease in MODY5. A clinicopathological investigation of a Norwegian MODY5 family. (ekstern lenke)
• Lise Bjørkhaug; Alba Kaci; Magdalena Keindl et al. (2018). The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1. (ekstern lenke)
• Laurie John Hannigan; Elizabeth Corfield; Guido Biele et al. (2021). The genomic basis of participation in the Norwegian Mother, Father and Child Cohort Study. (ekstern lenke)
• Liv Aasmul; Erling Tjora; Oddrun Anita Gudbrandsen et al. (2014). From Manual to Automated Analysis of Lipase and Amylase in Duodenal Juice. (ekstern lenke)
• Pål Rasmus Njølstad; Knut Dahl-Jørgensen; U Sarici et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glucoinase mutations linked to severity of phenotype. (ekstern lenke)
• Gaute Kjellevold Wathle; Trond Engjom; Birger Norderud Lærum et al. (2015). Secretin stimulated MRCP in the evaluation of exocrine pancreatic function in cystic fibrosis. (ekstern lenke)
• Oddmund Søvik; G E Matre; U Rishaug et al. (2002). familial hyperinsulinemic hypoglycemia with a mutation in the gene encoding short-chain 3-hydroxyacyl-coa dehydrogenase. (ekstern lenke)
• Anders Molven; G E Matre; E Jellum et al. (2002). A link between fatty acid oxidation and insulin secretion in the gen for short-chain 3-hydrozyacyl-CoA dehydrogenase leads to severe neonatal hypoglycemia with hyperinsulinism. (ekstern lenke)
• L Bjørkhaug; Jørn Sagen; P Thorsby et al. (2002). Hepatocyte nuclear factor-1alpha gene mutations and diabetes in Norway. (ekstern lenke)
• Espen Moen Eilertsen; Rosa Catherine Gillespie Cheesman; Ziada Ayorech et al. (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. (ekstern lenke)
• L. Bjørkhaug; A. Molven; Per Thorsby et al. (1999). A molecular survey of norwegian families with MODY-type diabetes. (ekstern lenke)
• Lise Bjørkhaug; Alba Kaci; Magdalena Keindl et al. (2018). The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1. (ekstern lenke)
• Laurie John Hannigan; Elizabeth Corfield; Guido Biele et al. (2021). The genomic basis of participation in the Norwegian Mother, Father and Child Cohort Study. (ekstern lenke)
• Liv Aasmul; Erling Tjora; Oddrun Anita Gudbrandsen et al. (2014). From Manual to Automated Analysis of Lipase and Amylase in Duodenal Juice. (ekstern lenke)
• Pål Rasmus Njølstad; Knut Dahl-Jørgensen; U Sarici et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glucoinase mutations linked to severity of phenotype. (ekstern lenke)
• Gaute Kjellevold Wathle; Trond Engjom; Birger Norderud Lærum et al. (2015). Secretin stimulated MRCP in the evaluation of exocrine pancreatic function in cystic fibrosis. (ekstern lenke)
• Espen Moen Eilertsen; Rosa Catherine Gillespie Cheesman; Ziada Ayorech et al. (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. (ekstern lenke)
• L. Bjørkhaug; A. Molven; Per Thorsby et al. (1999). A molecular survey of norwegian families with MODY-type diabetes. (ekstern lenke)
• Lise Bjørkhaug; Ingvild Aukrust; Alba Kaci et al. (2018). Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics. (ekstern lenke)
• Miguel Angel Juarez Garzon; Ksenia Kuznetsova; Divya Sri Priyanka Tallapragada et al. (2024). Pediatric Diabetes Clustering: Phenotypic and polygenic risk analysis. (ekstern lenke)
• Jørn Sagen; Pål Rasmus Njølstad; Å Sivertsen et al. (2002). Role of HNF-1beta and Msx-1 in vaginal aplasie. (ekstern lenke)
• Alba Kaci; Ingvild Aukrust; Lise Bjørkhaug et al. (2019). Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics. (ekstern lenke)
• Pål Rasmus Njølstad; Knut Dahl-Jørgensen; U Sarici et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glukoinase mutations linked to severity of phenotype. (ekstern lenke)
• Jan-Inge Bjune; Christine Haugen; Oddrun Anita Gudbrandsen et al. (2018). Irx5 regulates body weight via amyloid precursor protein and mitochondrial respiration in adipocytes. (ekstern lenke)
• Jan-Inge Bjune; Christine Haugen; Oddrun Anita Gudbrandsen et al. (2018). Irx5 regulates body weight via amyloid precursor protein (App) and mitochondrial respiration in adipocytes. (ekstern lenke)

Konferanseforedrag

• Elizabeth Claire Corfield; Oleksandr Frei; Alexey Shadrin et al. (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: the MoBaPsychGen_v1 pipeline. (ekstern lenke)
• Pål Rasmus Njølstad; B. N. Cockburn; G. I. Bell et al. (1998). A Norwegian family with MODY and a missense mutation, Val62Ala, in the glucokinase gene. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Sikring av prøver ved alvorlig sykdomm og død. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Arvelig diabetes - også relevant for svangerskapsdiabetes?. (ekstern lenke)
• Pål Rasmus Njølstad (2005). Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency. (ekstern lenke)
• P.R. Njølstad; Hans Geir Eiken; H. Hassounbbe et al. (1996). Mutasjon i beta-spectrin genet i en stor familie fra Sunnmøre med here ditær sfærocytose. (ekstern lenke)
• PR Njølstad; T Lindner; Y Horikawa et al. (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. (ekstern lenke)
• Anders Molven; U Rishaug; G E Matre et al. (2001). Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach. (ekstern lenke)
• Oddmund Søvik; T. Lindner; Pål Rasmus Njølstad et al. (1998). A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b. (ekstern lenke)
• Jørn V. Sagen; Pål Rasmus Njølstad; B. N. Cockburn et al. (1998). Mody 3 i en norsk familie. (ekstern lenke)
• Jørn V. Sagen; Pål Rasmus Njølstad; B. N. Cockburn et al. (1998). MODY3 in a Norwegian family with severe diabetic eye complications. (ekstern lenke)
• Pål Rasmus Njølstad (2005). A novel syndrome of diabetes and exocrine deficiency. (ekstern lenke)
• Pål Rasmus Njølstad (2001). Permanent neonatal diabetes mellitus and MODY. (ekstern lenke)
• Vibeke Gagnum; Lars Christian Stene; L Sandvik et al. (2015). Causes of dealth in a cohort of childhood-onset type 1 diabetes diagnosed during 1973-2012. A Nationwide population-based study in Norway.. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Diabetes og genetiske defekter i beta-cellens nettverk av faktorer. (ekstern lenke)
• Pål Rasmus Njølstad; A. O. M. Wilkie; S. J. Pedersen (1997). Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2. (ekstern lenke)
• M. Tansek; Pål Rasmus Njølstad; D. Undlien et al. (1998). Kongenitt diabetes: Omtale av to tilfeller. (ekstern lenke)
• Oddmund Søvik; T. Lindner; Pål Rasmus Njølstad et al. (1998). Et nytt syndrom med Mody, progressiv ikke-diabetisk nefropati, genitale misdannelser, og mutasjon av hepatocytt nukleær transkripsjonsfaktor (HNF)-. (ekstern lenke)
• Alba Kaci; Ingvild Aukrust; Pål Rasmus Njølstad et al. (2019). Functional characterization of diabetes gene variants is important for precision medicine. (ekstern lenke)
• P.R. Njølstad; H. Hassoun; J. Palek et al. (1996). A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis. (ekstern lenke)
• Pål Rasmus Njølstad; L Bjørkhaug; A Molven et al. (2000). Genetic and functional characterization of mutations in norwegian families with MODY diabetes. (ekstern lenke)
• A Stride; M Vaxillaire; T Tuomi et al. (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (ekstern lenke)
• Pål Rasmus Njølstad (2010). Monogenic diabetes: An example of translational medicine. (ekstern lenke)
• Lene Bjørkhaug; PR Njølstad; P Thorsby et al. (1999). Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young. (ekstern lenke)
• Oddmund Søvik; T. Lindner; Pål Rasmus Njølstad et al. (1998). A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b. (ekstern lenke)
• Jørn V. Sagen; Pål Rasmus Njølstad; B. N. Cockburn et al. (1998). Mody 3 i en norsk familie. (ekstern lenke)
• Jørn V. Sagen; Pål Rasmus Njølstad; B. N. Cockburn et al. (1998). MODY3 in a Norwegian family with severe diabetic eye complications. (ekstern lenke)
• Pål Rasmus Njølstad (2005). A novel syndrome of diabetes and exocrine deficiency. (ekstern lenke)
• P.R. Njølstad; H. Hassoun; J. Palek et al. (1996). A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis. (ekstern lenke)
• Pål Rasmus Njølstad; L Bjørkhaug; A Molven et al. (2000). Genetic and functional characterization of mutations in norwegian families with MODY diabetes. (ekstern lenke)
• A Stride; M Vaxillaire; T Tuomi et al. (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (ekstern lenke)
• Pål Rasmus Njølstad (2010). Monogenic diabetes: An example of translational medicine. (ekstern lenke)
• Lene Bjørkhaug; PR Njølstad; P Thorsby et al. (1999). Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young. (ekstern lenke)
• Jan-Inge Bjune; Samantha Laber; Laurence Dyer et al. (2021). Epigenetic control of adipogenesis by Irx3. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (1998). Maturity-onset diabetes of the young (MODY). (ekstern lenke)
• Pål Rasmus Njølstad (2002). Adipositas. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Gynekomasti. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Molekylærgenetisk diagnostikk. (ekstern lenke)
• Jørn Sagen; Pål Rasmus Njølstad; Å Sivertsen et al. (2002). Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi. (ekstern lenke)
• Pål Rasmus Njølstad; L Bjørkhaug; Louise Grevle et al. (2000). Studies of HNF-1alfa mutations in Norwegian MODY3 families. (ekstern lenke)
• Pål Rasmus Njølstad (2010). Carboxyl-ester lipase and diabetes. (ekstern lenke)
• Pål Rasmus Njølstad (2010). CEL mutations and pancreatic dysfunction. (ekstern lenke)
• Pål Rasmus Njølstad (2010). Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?. (ekstern lenke)
• Pål Rasmus Njølstad (2010). Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment. (ekstern lenke)

Vitenskapelig litteraturgjennomgang

• Jason Flannick; Stefan Johansson; Pål Rasmus Njølstad (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. (ekstern lenke)
• Bente Berg Johansson; Karianne Fjeld; Khadija el Jellas et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (ekstern lenke)
• Bente Berg Johansson; Karianne Fjeld; Khadija el Jellas et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (ekstern lenke)

Leserbrev

• Helga Salvesen; Pål Rasmus Njølstad (2005). Barn ingen hindring. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Forsinket diagnose av hereditær episodisk ataksi. (ekstern lenke)
• Eba Hathout; John Mace; Graeme I. Bell et al. (2006). Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Forsinket diagnose av hereditær episodisk ataksi. (ekstern lenke)
• Eba Hathout; John Mace; Graeme I. Bell et al. (2006). Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. (ekstern lenke)

Forskningsrapport

• Ragna Bugge Askeland; Laurie John Hannigan; Helga Ask et al. (2020). Early manifestations of genetic risk for neurodevelopmental disorders. (ekstern lenke)
• Pål Rasmus Njølstad; Anders Molven; Leif Groop (2009). Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. (ekstern lenke)
• Robert Bjerknes; G. Andersen; K. Miljeteig et al. (1997). Kompetanseutvikling ved Barneklinikken, Haukeland Sykehus. (ekstern lenke)
• Pål Rasmus Njølstad; Anders Molven; Leif Groop (2009). Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. (ekstern lenke)
• Robert Bjerknes; G. Andersen; K. Miljeteig et al. (1997). Kompetanseutvikling ved Barneklinikken, Haukeland Sykehus. (ekstern lenke)
• Elizabeth Claire Corfield; Oleksandr Frei; Alexey Shadrin et al. (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1. (ekstern lenke)
• Laurie John Hannigan; Ragna Bugge Askeland; Helga Ask et al. (2020). Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders. (ekstern lenke)

Lederartikkel

• Pål Rasmus Njølstad; Anders Molven (2012). To test, or not to test: time for a MODY calculator?. (ekstern lenke)
• Dagfinn Aarskog; Pål Rasmus Njølstad (2001). Klinisk molekylærmedisin: en introduksjon. (ekstern lenke)
• Pål Rasmus Njølstad (2001). Bare barn?. (ekstern lenke)
• Robert Bjerknes; Brit Skadberg; Pål Rasmus Njølstad (2001). Inhalasjonssteroider og vekst. (ekstern lenke)

Rettelse i tidsskrift

• Pol Solé-Navais; Christopher Flatley; Valgerdur Steinthorsdottir et al. (2023). Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight (Nature Genetics, (2023), 55, 4, (559-567), 10.1038/s41588-023-01343-9). (ekstern lenke)
• Valérie Turcot; Øyvind Helgeland; Oddgeir Lingaas Holmen et al. (2018). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (ekstern lenke)
• Øyvind Helgeland; Marc Vaudel; Pol Sole-Navais et al. (2024). Correction to: Characterization of the genetic architecture of infant and early childhood body mass index (Nature Metabolism, (2022), 4, 3, (344-358), 10.1038/s42255-022-00549-1). (ekstern lenke)
• Valérie Turcot; Yingchang Lu; Heather M. Highland et al. (2019). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x). (ekstern lenke)
• Valérie Turcot; Øyvind Helgeland; Oddgeir Lingaas Holmen et al. (2018). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (ekstern lenke)
• Øyvind Helgeland; Marc Vaudel; Pol Sole-Navais et al. (2024). Correction to: Characterization of the genetic architecture of infant and early childhood body mass index (Nature Metabolism, (2022), 4, 3, (344-358), 10.1038/s42255-022-00549-1). (ekstern lenke)
• Valérie Turcot; Yingchang Lu; Heather M. Highland et al. (2019). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x). (ekstern lenke)
• Robert K. Semple; Kashyap A. Patel; Sungyoung Auh et al. (2024). Correction to: Genotype-stratified treatment for monogenic insulin resistance: a systematic review (Communications Medicine, (2023), 3, 1, (134), 10.1038/s43856-023-00368-9). (ekstern lenke)

Tidsskriftomtale

• Pål Rasmus Njølstad (2000). Klage til Norsk Pasientskadeerstatning basert på opplysninger hentet fra internett. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Ibuprofen ved persisterende ductus arteriosus. (ekstern lenke)
• Pål Rasmus Njølstad; Karen Rosendahl; Lars Ersland (2000). Magnetisk resonans - forkortinger og ordforklaringer. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Aktuell ny nordisk lærebok i pediatri. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Endometriecancer etter østrogenbehandling. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Forsinket diagnostisering av medfødt hoftedysplasi. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Endometriecancer etter østrogenbehandling. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Forsinket diagnostisering av medfødt hoftedysplasi. (ekstern lenke)
• Pål Rasmus Njølstad (2000). Erstatning og oppreisning for fjerning av friske eggstokker. (ekstern lenke)

Forelesning

• Ziada Ayorech; Neil Davies; George Davey Smith et al. (2023). Causal risk factors for childhood eating behaviours and adulthood anorexia nervosa. A between and within family Mendelian randomisation study. (ekstern lenke)
• T. Lindner; Pål Rasmus Njølstad; Oddmund Søvik (1998). Twenty-five amino acid deletion in the transcription factor HNF-1ß associated kidney dysfunction and type 2 diabetes mellitus. (ekstern lenke)
• Pål Rasmus Njølstad (2002). Diabetes og genetikk. (ekstern lenke)

Populærvitenskapelig artikkel

• Anders Molven; Pål Rasmus Njølstad (2010). Monogen diabetes i Norge. (ekstern lenke)
• Pål Rasmus Njølstad; Anders Molven (2010). Genetikk i fokus. (ekstern lenke)
• Pål Rasmus Njølstad; Anders Molven (2003). Forskere diskuterte arv og diabetes. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (2003). Neonatal diabetes - permanent eller transient?. (ekstern lenke)
• Pål Rasmus Njølstad (1991). Onkogener - gener som kan forårsake kreftutvikling. (ekstern lenke)
• Pål Rasmus Njølstad (1991). Onkogener - gener som kan forårsake kreftutvikling. (ekstern lenke)
• Anders Molven; Pål Rasmus Njølstad (1991). Når beina sitter på hodet! Om bananfluer, fosterutvikling og homeobokser. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (2001). Løser gåten om arvelig diabetes. (ekstern lenke)
• Pål Rasmus Njølstad; L Bjørkhaug (2003). Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. (ekstern lenke)
• Pål Rasmus Njølstad; Jørn V. Sagen (2003). Klinisk molekylærmedisin (4): Koblingsanalyser. (ekstern lenke)

Konferanseabstrakt

• Torild Skrivarhaug; Lars Christian Stene; Hanne Strøm et al. (2010). Increasing incidence of childhood onset type 1 diabetes in Norway. (ekstern lenke)
• Karianne Fjeld; Janniche Torsvik; Stefan Johansson et al. (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. (ekstern lenke)
• Pål Rasmus Njølstad; Anders Molven; Leif Groop (2009). The Genotypes and Phenotypes of Diabetes. (ekstern lenke)
• Henrik B. Thybo Christesen; Nicholas D. Tribble; Anders Molven et al. (2008). Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. (ekstern lenke)
• Torild Skrivarhaug; Marit Bjørnvold; Dag Erik Undlien et al. (2008). Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. (ekstern lenke)
• Sven Pörksen; Lene Bjerke Laborie; Lotte B. Nielsen et al. (2008). SUR mutation in type 1 diabetes: autoimmunity prevents sulfonylurea rescue of diabetes caused by SUR1 mutation. Results from the Hvidore Study Group. (ekstern lenke)
• Stefan Johansson; Jens Kristoffer Hertel; Kristian Midthjell et al. (2008). The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. (ekstern lenke)
• Mette Vesterhus; Stefan Johansson; Helge Ræder et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (ekstern lenke)
• P Tammaro; C Girard; Janne Molnes et al. (2005). Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. (ekstern lenke)
• Carine de Beaufort; Chas T. Skinner; Peter G F Swift et al. (2008). Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. (ekstern lenke)
• Mette Vesterhus; Stefan Johansson; Helge Ræder et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (ekstern lenke)
• P Tammaro; C Girard; Janne Molnes et al. (2005). Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. (ekstern lenke)
• Carine de Beaufort; Chas T. Skinner; Peter G F Swift et al. (2008). Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. (ekstern lenke)
• HL Allen; Stefan Johansson; S Ellard et al. (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. (ekstern lenke)
• Anders Molven; Janniche Torsvik; Bente Berg Johansson et al. (2013). Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. (ekstern lenke)
• Amanda Hughes; Tim Morris; Ziada Ayorech et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (ekstern lenke)

Vitenskapelig bokkapittel

• Pål Rasmus Njølstad; Anders Molven; Oddmund Søvik (2005). Diagnosis and mangement of MODY in a pediatric setting. (ekstern lenke)
• Pål Rasmus Njølstad; Oddmund Søvik (2004). Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency. (ekstern lenke)
• Anders Molven; Geir Helgeland; Tone Sandal et al. (2012). The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency. (ekstern lenke)
• Oddmund Søvik; Jørn V. Sagen; Pål Rasmus Njølstad (2008). MODY5 due to mutations in TCF2 (HNF-1ß): The clinical spectrum with special reference to urogenital malformations. (ekstern lenke)
• Anders Molven; Pål Rasmus Njølstad; Anders Fjose (1993). Pattern formation in fish embryos: Characterization of homebox genes from the zebrafish (Brachydranio rerio). (ekstern lenke)

Doktorgradsavhandling

• Marie Holm Solheim; Pål Rasmus Njølstad (2018). PI 3-kinase regulation of mice and men: Novel aspects of insulin and growth factor signaling. (ekstern lenke)
• Henrik Underthun Irgens; Pål Rasmus Njølstad; Anders Molven (2017). Targeted clinical and genetic investigations to identify monogenic diabetes. (ekstern lenke)
• Pål Rasmus Njølstad (1989). Structural and functional analysis of vertebrate homeobox genes using the zebrafish (Brachydanio rerio) as a model. (ekstern lenke)
• Heiko Bratke; Torild Skrivarhaug; Hanna Dis Margeirsdottir et al. (2025). Pediatric Diabetes Care in Norway : Glycemic Results and Health-Related Quality of Life. (ekstern lenke)
• Heiko Bratke; Torild Skrivarhaug; Hanna Dis Margeirsdottir et al. (2025). Pediatric Diabetes Care in Norway : Glycemic Results and Health-Related Quality of Life. (ekstern lenke)

Fremhevet artikkel i media

• Oddmund Søvik; Pål Rasmus Njølstad; I. Følling et al. (1998). Hyperexacitability to sulphonylurea in MODY3. (ekstern lenke)
• Pål Rasmus Njølstad (2013). De tunge barna. (ekstern lenke)
• Pål Rasmus Njølstad (2013). De tunge barna. (ekstern lenke)

Medieintervju

• Stefan Johansson; Pål Rasmus Njølstad (2022). Har oppdaga kvifor Alvin er tjukkare enn Arthur. (ekstern lenke)
• Stefan Johansson; Pål Rasmus Njølstad (2022). Har oppdaga kvifor Alvin er tjukkare enn Arthur. (ekstern lenke)

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