Pål Rasmus Njølstad, MD PhD, Njølstad´s is interested in childhood and monogenic diabetes having described new diabetes syndromes including diabetes and exocrine dysfunction due to mutations in CEL, and found that neonatal diabetes can be treated with sulfonylurea tablets instead of insulin. Njølstad is Professor and Head of Department of Clinical Medicine, University of Bergen, Consultant Physician at the Department of Pediatrics, Haukeland University Hospital, and Leader of Center for Diabetes Research coordinating a proposal for a Norwegian center of excellence, Center for Diabetes Mechanisms. He has had research stays at the University of Chicago, Harvard Medical School, Broad Institute of Harvard and MIT, and Massachusetts General Hospital. He has achieved competitive research funding, eg. from the European Research Council (ERC AdG) and the Novo Nordisk Foundation, has earned several international prizes, and is member of the Norwegian Society of Science and Letters. 

Errata

• Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol 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). (external link)
• Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur 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). (external link)
• Turcot, Valérie; Lu, Yingchang; Highland, Heather M. 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). (external link)
• Turcot, Valérie; Helgeland, Øyvind; Holmen, Oddgeir Lingaas et al. (2018). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (external link)

Academic article

• Lund-Blix, Nicolai Andre; Bjerregaard, Anne A.; Tapia, German 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. (external link)
• Verhoef, Ellen; Allegrini, Andrea G.; Jansen, Philip R. et al. (2024). Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related Traits. (external link)
• Moksnes, Marta R.; Hansen, Ailin F.; Wolford, Brooke N. et al. (2024). A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans. (external link)
• Kuznetsova, Ksenia G.; Vašíček, Jakub; Skiadopoulou, Dafni et al. (2024). Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes. (external link)
• Pavithram, Aishwarya; Zhang, Haichen; Maloney, Kristin A. et al. (2024). In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY. (external link)
• Kind, Laura; Molnes, Janne; Tjora, Erling et al. (2024). Molecular mechanism of HNF-1A–mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes. (external link)
• Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (external link)
• Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine et al. (2024). Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. (external link)
• Hernaez Camba, Alvaro; Skåra, Karoline Hansen; Page, Christian Magnus et al. (2024). Parental genetically predicted liability for coronary heart disease and risk of adverse pregnancy outcomes: a cohort study. (external link)
• Hernandez, Marta H.; Cohen, Jacqueline Mallory; Skåra, Karoline Hansen et al. (2024). Placental efflux transporters and antiseizure or antidepressant medication use impact birth weight in MoBa cohort. (external link)
• Jaitner, Annika; Vaudel, Marc; Tsaneva-Atanasova, Krasimira et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (external link)
• Bratke, Heiko Holger Karl-Ernst; Biringer, Eva Aaker; Ushakova, Anastasia et al. (2024). Ten Years of Improving Glycemic Control in Pediatric Diabetes Care: Data From the Norwegian Childhood Diabetes Registry. (external link)
• Olwi, Duaa I.; Kaisinger, Lena R.; Kentistou, Katherine A. et al. (2024). Likely causal effects of insulin resistance and IGF-1 bioaction on childhood and adult adiposity: a Mendelian randomization study. (external link)
• D'Urso, Shannon; Moen, Gunn-Helen Øiseth; Hwang, Liang-Dar et al. (2023). Intrauterine Growth and Offspring Neurodevelopmental Traits A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Thuesen, Anne Cathrine; Stæger, Fredrik Filip; Kaci, Alba et al. (2023). A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. (external link)
• Wootton, Robyn E; Lawn, Rebecca B.; Magnus, Maria C. et al. (2023). Associations between health behaviours, fertility and reproductive outcomes: triangulation of evidence in the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Diemer, Elizabeth W.; Havdahl, Alexandra; Andreassen, Ole 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. (external link)
• Jami, Eshim S.; Hammerschlag, Anke R.; Sallis, Hannah M. et al. (2023). Do environmental effects indexed by parental genetic variation influence common psychiatric symptoms in childhood?. (external link)
• Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (external link)
• Kind, Laura; Driver, Mark; Raasakka, Arne et al. (2023). Structural properties of the HNF-1A transactivation domain. (external link)
• Meling, Sondre V.; Tjora, Erling; Eichele, Heike et al. (2023). Rectal sensitivity correlated with gastrointestinal-mediated glucose disposal, but not the incretin effect. (external link)
• Hernaez Camba, Alvaro; Lee, Yunsung; Page, Christian Magnus 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. (external link)
• Svalastoga, Pernille; Kaci, Alba; Molnes, Janne et al. (2023). Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. (external link)
• Budu-Aggrey, Ashley; Kilanowski, Anna; Sobczyk, Maria K. et al. (2023). European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation. (external link)
• Sanchez, Luis Francisco Hernandez; Burger, Bram; Campos, Rodrigo Alexander Castro et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (external link)
• Vasicek, Jakub; Skiadopoulou, Dafni; Kuznetsova, Ksenia et al. (2023). Finding haplotypic signatures in proteins. (external link)
• Tobias, Deirdre K.; Merino, Jordi; Ahmad, Abrar et al. (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. (external link)
• Beaumont, Robin N.; Flatley, Christopher; Vaudel, Marc et al. (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. (external link)
• Meling, Sondre V.; Tjora, Erling; Eichele, Heike et al. (2023). The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy. (external link)
• Velde, Christoffer Drabløs; Reigstad, Hallvard; Tjora, Erling et al. (2023). Medfødt hyperinsulinisme. (external link)
• Solberg, Berit Skretting; Kvalvik, Liv Grimstvedt; Instanes, Johanne Telnes 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. (external link)
• Fernandez, Manuel Carrasco; Wang, Chencheng; Søviknes, Anne Mette et al. (2022). Spatial Environment Affects HNF4A Mutation-Specific Proteome Signatures and Cellular Morphology in hiPSC-Derived β-Like Cells. (external link)
• Eilertsen, Espen Moen; Gillespie Cheesman, Rosa Catherine; Ayorech, Ziada et al. (2022). On the importance of parenting in externalizing disorders: an evaluation of indirect genetic effects in families. (external link)
• Hughes, Amanda M.; Sanderson, Eleanor; Morris, Tim et al. (2022). Body mass index and childhood symptoms of depression, anxiety, and attention-deficit hyperactivity disorder: A within-family Mendelian randomization study. (external link)
• Howe, Laurence J.; Nivard, Michel G.; Morris, Tim T. et al. (2022). Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects. (external link)
• Bratke, Heiko; Biringer, Eva; Margeirsdottir, Hanna Dis 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. (external link)
• Fjeld, Karianne; Svanbring, Anny Gravdal; Brekke, Ranveig Seim et al. (2022). The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice. (external link)
• Strand, Kristina; Stiglund, Natalie; Haugstøyl, Martha Eimstad et al. (2022). Subtype-specific surface proteins on adipose tissue macrophages and their association to obesity-induced insulin resistance. (external link)
• Flatley, Christopher; Sole-Navais, Pol; Vaudel, Marc et al. (2022). Placental weight centiles adjusted for age, parity and fetal sex. (external link)
• Tijardović, Marko; Štambuk, Tamara; Juszczak, Agata et al. (2022). Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young. (external link)
• Jami, Eshim S.; Hammerschlag, Anke R.; Ip, Hill F. et al. (2022). Genome-wide association meta-analysis of childhood and adolescent internalizing symptoms. (external link)
• Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol et al. (2022). Characterization of the genetic architecture of infant and early childhood body mass index. (external link)
• Jellas, Khadija el; Dušátková, Petra; Haldorsen, Ingfrid S. et al. (2022). Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases. (external link)
• Kind, Laura; Raasakka, Arne; Molnes, Janne et al. (2022). Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants. (external link)
• Hernaez Camba, Alvaro; Wootton, Robyn E; Page, Christian Magnus et al. (2022). Smoking and infertility: multivariable regression and Mendelian randomization analyses in the Norwegian Mother, Father and Child Cohort Study. (external link)
• Isungset, Martin Arstad; Conley, Dalton C; Zachrisson, Henrik Daae et al. (2022). Social and genetic associations with educational performance in a Scandinavian welfare state. (external link)
• Torvik, Fartein Ask; Eilertsen, Espen Moen; Hannigan, Laurie John et al. (2022). Modeling assortative mating and genetic similarities between partners, siblings, and in-laws. (external link)
• Hannigan, Laurie John; Askeland, Ragna Bugge; Ask, Helga et al. (2021). Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population. (external link)
• Haan, E; Sallis, H; Ystrøm, Eivind et al. (2021). Maternal and offspring genetic risk score analyses of fetal alcohol exposure and attention-deficit hyperactivity disorder risk in offspring. (external link)
• Elias-Assad, Ghadir; Saab, Raunak; Molnes, Janne et al. (2021). Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family. (external link)
• Askeland, Ragna Bugge; Hannigan, Laurie J.; Ask, Helga et al. (2021). Early manifestations of genetic risk for neurodevelopmental disorders. (external link)
• Bratke, Heiko; Margeirsdottir, Hanna D.; Assmus, Jörg 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. (external link)
• Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (external link)
• Romuld, Ingunn Bratland; Kalleklev, Tine-Lise; Molnes, Janne et al. (2021). Impact of overweight on glucose homeostasis in MODY2 and MODY3. (external link)
• Tapia, German; Suvitaival, Tommi; Ahonen, Linda 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. (external link)
• Ip, Hill F.; van der Laan, Camiel M.; Krapohl, Eva M. L. et al. (2021). Genetic association study of childhood aggression across raters, instruments, and age. (external link)
• Svanbring, Anny Gravdal; Xiao, Xunjun; Cnop, Miriam et al. (2021). The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity. (external link)
• Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren et al. (2020). Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. (external link)
• Fjeld, Karianne; Masson, Emmanuelle; Lin, Jin-Huan et al. (2020). Characterization of CEL-DUP2: Complete duplication of the carboxyl ester lipase gene is unlikely to influence risk of chronic pancreatitis. (external link)
• Vogelezang, Suzanne; Bradfield, Jonathan P.; Ahluwalia, Tarunveer S. et al. (2020). Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. (external link)
• Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (external link)
• Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (external link)
• Malikova, Jana; Kaci, Alba; Dusatkova, Petra et al. (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. (external link)
• Lund-Blix, Nicolai Andre; Tapia, German; Mårild, Karl Staffan et al. (2020). Maternal and child gluten intake and association with type 1 diabetes: The Norwegian Mother and Child Cohort Study. (external link)
• Althari, Sara; Najmi, Laeya Abdoli; Bennett, Amanda J. et al. (2020). Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation. (external link)
• Winnay, Jonathon N.; Solheim, Marie Holm; Sakaguchi, Masaji et al. (2020). Inhibition of the PI 3-kinase pathway disrupts the unfolded protein response and reduces sensitivity to ER stress-dependent apoptosis. (external link)
• Velasco Pinto, Kelly; St-Louis, Johanna Lüdeke; Hovland, Henrikke Nilsen et al. (2020). Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro. (external link)
• Valvatne, Monica Dalva; Lavik, Ida Marie Kjærefjord; el Jellas, Khadija et al. (2020). Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells . (external link)
• Svalastoga, Pernille; Sulen, Åsta Nordsveen; Fehn, Jarle Røneid et al. (2020). Intellectual disability in KATP channel neonatal diabetes. (external link)
• Cheesman, Rosa; Eilertsen, Espen Moen; Ahmadzadeh, Yasmin I. 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). (external link)
• Tapia, German; Mårild, Karl Staffan; Dahl, Sandra Rinne et al. (2019). Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes. (external link)
• Tapia, German; Mortimer, Georgina; Ye, Jody et al. (2019). Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. (external link)
• Warrington, Nicole Maree; Beaumont, Robin N.; Horikoshi, Momoko et al. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. (external link)
• Qiao, Zhen; Zheng, Jie; Helgeland, Øyvind et al. (2019). Introducing M-GCTA a software package to estimate maternal (or paternal) genetic effects on offspring phenotypes. (external link)
• Bjune, Jan-Inge; Dyer, Laurence; Røsland, Gro Vatne et al. (2019). The homeobox factor Irx3 maintains adipogenic identity. (external link)
• Bradfield, Jonathan P.; Vogelezang, Suzanne; Felix, Janine F. et al. (2019). A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity. (external link)
• Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt et al. (2019). Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. (external link)
• Liu, Xueping; Helenius, Dorte; Skotte, Line et al. (2019). Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. (external link)
• Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (external link)
• Thorsen, Steffen U.; Mårild, Karl Staffan; Olsen, Sjurdur Frodi 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. (external link)
• Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta et al. (2018). Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. (external link)
• Bowman, Pamela; Sulen, Åsta Nordsveen; Barbetti, Fabrizio 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. (external link)
• Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi et al. (2018). Parental smoking and risk of childhood-onset type 1 diabetes. (external link)
• Engjom, Trond; Kavaliauskiene, Giedre; Tjora, Erling et al. (2018). Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI. (external link)
• Beaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana et al. (2018). Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. (external link)
• Størdal, Ketil; McArdle, Harry J.; Hayes, Helen et al. (2018). Prenatal iron exposure and childhood type 1 diabetes. (external link)
• Tapia, German; Størdal, Ketil; Mårild, Karl Staffan et al. (2018). Antibiotics, acetaminophen and infections during prenatal and early life in relation to type 1 diabetes. (external link)
• Turcot, Valérie; Lu, Yingchang; Highland, Heather M. et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. (external link)
• Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm et al. (2018). The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. (external link)
• Hattersley, Andrew T.; Greeley, Siri A.W.; Polak, Michel et al. (2018). ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. (external link)
• el Jellas, Khadija; Johansson, Bente Berg; Fjeld, Karianne 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. (external link)
• Bjune, Jan-Inge; Haugen, Christine; Gudbrandsen, Oddrun Anita et al. (2018). IRX5 regulates adipocyte amyloid precursor protein and mitochondrial respiration in obesity. (external link)
• Skinner, Timothy C; Lange, Karin S; Hoey, Hilary et al. (2018). Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. (external link)
• Solheim, Marie Holm; Winnay, Jonathon N.; Batista, Thiago M. et al. (2018). Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes. (external link)
• Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina et al. (2017). Rare and low-frequency coding variants alter human adult height. (external link)
• Sagen, Jørn V.; Bjørkhaug, Lise; Haukanes, Bjørn Ivar et al. (2017). The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes. (external link)
• Vistnes, Maria; Tapia, German; Mårild, Karl Staffan et al. (2017). Plasma immunological markers in pregnancy and cord blood: A possible link between macrophage chemo-attractants and risk of childhood type 1 diabetes. (external link)
• Strand, Elin; Pedersen, Eva Ringdal; Svingen, Gard Frodahl Tveitevåg et al. (2017). Serum acylcarnitines and risk of cardiovascular death and acute myocardial infarction in patients with stable angina pectoris. (external link)
• Johansson, Bente Berg; Fjeld, Karianne; Solheim, Marie Holm et al. (2017). Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation. (external link)
• Kopczynski, Dominik; Barsnes, Harald; Njølstad, Pål Rasmus et al. (2017). PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. (external link)
• Solheim, Marie Holm; Clermont, Allen C.; Winnay, Jonathon N. et al. (2017). Iris malformation and anterior segment dysgenesis in mice and humans with a mutation in PI 3-Kinase. (external link)
• Rebnord, Eirik Wilberg; Strand, Elin; Midttun, Øivind et al. (2017). The kynurenine:tryptophan ratio as a predictor of incident type 2 diabetes mellitus in individuals with coronary artery disease. (external link)
• Lund-Blix, Nicolai Andre; Sander, Stine Dydensborg; Størdal, Ketil et al. (2017). Infant feeding and risk of type 1 diabetes in two large scandinavian birth cohorts. (external link)
• Dalva, Monica; el Jellas, Khadija; Steine, Solrun et al. (2017). Copy number variants and VNTR length polymorphisms of the carboxyl-ester lipase (CEL) gene as risk factors in pancreatic cancer. (external link)
• Flannick, Jason; Fuchsberger, Christian; Mahajan, Anubha et al. (2017). Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. (external link)
• Gagnum, Vibeke; Stene, Lars Christian; Jenssen, Trond Geir et al. (2017). Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. (external link)
• Najmi, Laeya Abdoli; Aukrust, Ingvild; Flannick, Jason et al. (2017). Functional investigations of HNF1A identify rare variants as risk factors for type 2 diabetes in the general population. (external link)
• Johansson, Bente Berg; Irgens, Henrik Underthun; Molnes, Janne 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. (external link)
• Balamurugan, Kandasamy; Bjørkhaug, Lise; Mahajan, Swapnil et al. (2016). Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. (external link)
• Fjeld, Karianne; Beer, Sebastian; Johnstone, Marianne 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. (external link)
• Madzak, Adnan; Engjom, Trond; Wathle, Gaute Kjellevold et al. (2016). Secretin-stimulated MRI assessment of exocrine pancreatic function in patients with cystic fibrosis and healthy controls. (external link)
• Lek, M; Aggregation Consortium, Exome; Njølstad, Pål Rasmus et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans.. (external link)
• Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M. et al. (2016). The genetic architecture of type 2 diabetes. (external link)
• Avila, Magali; Dyment, David A.; Sagen, Jørn V. et al. (2016). Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: Toward recommendation for molecular testing and management. (external link)
• Svingen, Gard Frodahl Tveitevåg; Schartum-Hansen, Hall; Pedersen, Eva Ringdal et al. (2016). Prospective associations of systemic and urinary choline metabolites with incident type 2 diabetes. (external link)
• Winnay, Jonathon N.; Solheim, Marie Holm; Dirice, Ercument et al. (2016). PI3-kinase mutation linked to insulin and growth factor resistance in vivo. (external link)
• Kaur, Simranjeet; Mirza, Aashiq H.; Brorsson, Caroline A. et al. (2016). The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. (external link)
• Molven, Anders; Hollister-Lock, Jennifer; Hu, Jiang et al. (2016). The hypoglycemic phenotype is islet cell-autonomous in short-chain hydroxyacyl-CoA dehydrogenase-deficient mice. (external link)
• Gagnum, Vibeke; Stene, Lars Christian; Sandvik, Leiv et al. (2015). All-cause mortality in a nationwide cohort of childhood-onset diabetes in Norway 1973–2013. (external link)
• Irgens, Henrik Underthun; Fjeld, Karianne; Johansson, Bente Berg et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (external link)
• Fjeld, Karianne; Weiss, Frank Ulrich; Lasher, Denise et al. (2015). A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. (external link)
• Zhang, Ge; Bacelis, Jonas; Lengyel, Candice et al. (2015). Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. (external link)
• Rozenkova, Klara; Malikova, Jana; Nessa, Azizun et al. (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. (external link)
• Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta et al. (2015). Infant growth and risk of childhood-onset type 1 diabetes in children from 2 scandinavian birth cohorts. (external link)
• Wathle, Gaute K; Tjora, Erling; Ersland, Lars et al. (2014). Assessment of Exocrine Pancreatic Function by Secretin-Stimulated Magnetic Resonance Cholangiopancreaticography and Diffusion-Weighted Imaging in Healthy Controls. (external link)
• Ræder, Helge; McAllister, Fiona E.; Tjora, Erling 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. (external link)
• Negahdar, Maria; Aukrust, Ingvild; Molnes, Janne et al. (2014). GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. (external link)
• Flannick, Jason; Thorleifsson, G; Beer, N et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (external link)
• Rubio-Cabezas, Oscar; Hattersley, Andrew T.; Njølstad, Pål Rasmus et al. (2014). The diagnosis and management of monogenic diabetes in children and adolescents. (external link)
• Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise 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. (external link)
• Torsvik, Janniche; Johansson, Bente Berg; Dalva, Monica et al. (2014). Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian et al. (2013). Type 2 diabetes genes : present status and data from Norwegian studies. (external link)
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• Elbarbary, Nancy S.; Tjora, Erling; Molnes, Janne et al. (2013). An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. (external link)
• Thanabalasingham, Gaya; Huffman, Jennifer; Kattla, Jayesh J. et al. (2013). Mutations in HNF1A result in marked alterations of plasma glycan profile. (external link)
• Aukrust, Ingvild; Bjørkhaug, Lise; Negahdar, Maria et al. (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. (external link)
• Teo, Adrian K.K.; Windmueller, Rebecca; Johansson, Bente Berg et al. (2013). Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young. (external link)
• Tjora, Erling; Wathle, Gaute K; Erchinger, Friedemann et al. (2013). Exocrine pancreatic function in hepatocyte nuclear factor 1 beta-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas. (external link)
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• Gonc, E. Nazli; Ozturk, Burcu Bulum; Haldorsen, Ingfrid S. et al. (2012). HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. (external link)
• Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar et al. (2012). Exome sequencing and genetic testing for MODY. (external link)
• Eike, Morten Christoph; Skinningsrud, Beate; Ronninger, Marcus et al. (2012). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. (external link)
• Negahdar, Maria; Aukrust, Ingvild; Johansson, Bente Berg et al. (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. (external link)
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• Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette et al. (2011). The role of pancreatic imaging in monogenic diabetes. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily 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. (external link)
• Molnes, Janne; Teigen, Knut; Aukrust, Ingvild et al. (2011). Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. (external link)
• Trewick, Anne L.; Moustafa, Julia S. El-Sayed; de Smith, Adam J. 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. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge et al. (2011). Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). (external link)
• Johansson, Bente Berg; Torsvik, Janniche; Bjørkhaug, Lise 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. (external link)
• Thanabalasingham, Gaya; Shah, Nabi; Vaxillaire, Martine et al. (2011). A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. (external link)
• Vesterhus, Mette; Ræder, Helge; Kurpad, Amarnath J et al. (2010). Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. (external link)
• Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte B. 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. (external link)
• Swift, Peter G F; Skinner, T. Chas; de Beaufort, Carine E. et al. (2010). Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005. (external link)
• Ragvin, Anja; Moro, Enrico; Fredman, David et al. (2010). Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. (external link)
• Allen, Hana Lango; Johansson, Stefan; Ellard, Sian et al. (2010). Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. (external link)
• Torsvik, Janniche; Johansson, Stefan; Johansen, Anders et al. (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (external link)
• Laborie, Lene Bjerke; Mackay, Deborah J.G. ; Temple, I. Karen et al. (2010). DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. (external link)
• Skinningsrud, Beate; Lie, Benedicte; Husebye, Eystein S et al. (2010). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. (external link)
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• Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der et al. (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. (external link)
• Hoey, Hilary; Cameron, Fergus; Dorchy, Harry et al. (2009). Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. (external link)
• Åman, Jan; Skinner, TC; de Beaufort, Carine E. 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. (external link)
• Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan et al. (2009). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Bjørnvold, Marit; Munthe-Kaas, Monica Cheng; Egeland, Thore et al. (2009). A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. (external link)
• Skinningsrud, Beate; Lie, Benedicte Alexandra; Husebye, Eystein et al. (2009). A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. (external link)
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• Hattersley, Andrew; Bruining, Jan; Shield, Julian et al. (2009). The diagnosis and management of monogenic diabetes in children and adolescents. (external link)
• Sagen, Jørn V.; Bjørkhaug, Lise; Molnes, Janne et al. (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. (external link)
• Søvik, Oddmund; Njølstad, Pål Rasmus; Jellum, Egil et al. (2008). Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. (external link)
• Bjørnvold, Marit; Undlien, DE; Joner, Geir et al. (2008). Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. (external link)
• Søvik, Oddmund; Juliusson, Petur; Hansen, Eirik V. et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. (external link)
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• Vesterhus, Mette; Haldorsen, Ingfrid Salvesen; Ræder, Helge et al. (2008). Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. (external link)
• Molnes, Janne; Bjørkhaug, Lise; Søvik, Oddmund 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. (external link)
• Molven, Anders; Ringdal, Monika; Nordbø, Anita-Merete et al. (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (external link)
• Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, H 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). (external link)
• Cameron, Fergus; Skinner, T. Chas; de Beaufort, Carine E. et al. (2008). Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?. (external link)
• Molven, A; Ringdal, M; Nordbø, AM et al. (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (external link)
• Christesen, Henrik B.T.; Tribble, Nicholas D.; Molven, Anders 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. (external link)
• Vesterhus, Mette; Ræder, Helge; Aurlien, Harald et al. (2008). Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. (external link)
• Magitta, Ng’weina Francis ; Bøe, AS; Johansson, S et al. (2008). A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. (external link)
• Sandal, Tone; Søvik, Oddmund; Njølstad, Pål Rasmus et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. (external link)
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• Haldorsen, Ingfrid Salvesen; Vesterhus, Mette; Ræder, Helge et al. (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. (external link)
• Harries, Lorna W.; Locke, Jonathan M.; Shields, Beverley et al. (2008). The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. (external link)
• Bjørkhaug, Lise; Molnes, Janne; Søvik, Oddmund et al. (2007). Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. (external link)
• Johansson, Stefan; Ræder, Helge; Eide, Stig Åge et al. (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. (external link)
• Søvik, Oddmund; Schubbert, Suzanne ; Houge, Gunnar et al. (2007). De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. (external link)
• Aamodt, Geir; Stene, Lars Christian; Njølstad, Pål 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. (external link)
• Ræder, Helge; Haldorsen, Ingfrid Salvesen; Ersland, Lars et al. (2007). Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-Ester lipase. (external link)
• Laborie, Lene Bjerke; Søvik, Oddmund; Njølstad, Pål Rasmus (2007). Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. (external link)
• Søvik, Oddmund; Tansek, Mojca Zerjav; Sagen, Jørn V. et al. (2007). Management of neonatal and infancy-onset diabetes mellitus. (external link)
• de Beaufort, Carine E.; Swift, Peter G F; Skinner, Chas T. 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. (external link)
• Mackay, Deborah J.G. ; Boonen, Susanne Eriksen ; Clayton-Smith, Jill et al. (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. (external link)
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• Bjørnvold, M; Amundsen, SS; Stene, Lars Christian et al. (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. (external link)
• Proks, Peter; Girard, Christophe; Bævre, Halvor et al. (2006). Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes and response to sulfonylurea therapy. (external link)
• Sagen, Jørn; Odili, Stella; Bjørkhaug, Lise et al. (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (external link)
• Pearson, Ewan R.; Flechtner, Isabelle; Njølstad, Pål Rasmus et al. (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. (external link)
• Hattersley, Andrew T.; Bruining, Jan; Shield, Julian et al. (2006). ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (external link)
• Sagen, JV; Odili, S; Bjørkhaug, L. et al. (2006). From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. (external link)
• Raeder, Helge; Ræder, Helge; Bjorkhaug, Lise 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. (external link)
• Ræder, Helge; Johansson, Stefan; Holm, Pål I. et al. (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Sagen, Jørn V.; Pearson, Ewan R.; Johansen, Anders et al. (2005). Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. (external link)
• Shehadeh, Naim; Bakri, D.; Gershoni-Baruch, R et al. (2005). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). (external link)
• Bjørkhaug, L.; Johansson, Stefan; Ræder, Helge et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (external link)
• Tammaro, Paolo; Girard, Christophe; Molnes, Janne et al. (2005). Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. (external link)
• Sagen, Jørn V.; Baumann, Maren E.; Salvesen, Helga et al. (2005). Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. (external link)
• Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (external link)
• Gundersen, Lise Bj.; Bratland, Andre; Njølstad, Pål Rasmus et al. (2005). Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. (external link)
• Gloyn, AL; Pearson, ER; Antcliff, JF et al. (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. (external link)
• Sagen, Jørn V.; Ræder, Helge; Hathout, Eba et al. (2004). Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. (external link)
• Stene, Lars Christian; Joner, G; Njølstad, Pål Rasmus (2004). Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. (external link)
• Molven, Anders; Matre, GE; Duran, M et al. (2004). Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. (external link)
• Njølstad, Pål Rasmus; Sagen, Jørn V.; Bjørkhaug, Lise et al. (2003). Permanent neonatal diabetes caused by glucokinase deficiency; inborn error of the glucose-insulin signaling pathway. (external link)
• Njølstad, Pål Rasmus (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (external link)
• Njølstad, Pål Rasmus (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. (external link)
• Gundersen, Lise Bj.; Sagen, Jørn V.; Thorsby, P et al. (2003). Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. (external link)
• Sagen, Jørn V.; Bostad, Leif; Njølstad, Pål Rasmus et al. (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. (external link)
• Njølstad, Pål Rasmus; Bjørkhaug, L (2003). Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. (external link)
• Njølstad, Pål Rasmus; Molven, Anders (2003). Forskere diskuterte diabetes. (external link)
• Sagen, Jørn V.; Bostad, Leif; Njølstad, Pål Rasmus et al. (2003). Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. (external link)
• Njølstad, Pål Rasmus; Sagen, Jørn (2003). Klinisk molekylærmedisin(4): koblingsanalyser. (external link)
• Bjørkhaug, L; Sagen, Jørn V.; Thorsby, P et al. (2003). Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. (external link)
• So, W Y; Ng, M C; Horikawa, Y et al. (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (external link)
• Njølstad, Pål Rasmus; Sagen, Jørn; Bjørkhaug, Lise et al. (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency- an inborn error of the glucose-insulin signalling pathway. (external link)
• Molven, Anders; Rishaug, U; Matre, G E et al. (2002). Hunting for a hypoglyecemia gene:Severe neonatal hypoglyecemia in a consanguineuos family. (external link)
• Søvik, Oddmund; Sagen, Jørn; Njølstad, Pål Rasmus et al. (2002). Contributions to the MODY5 phenotype. (external link)
• Njølstad, Pål Rasmus (2002). Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. (external link)
• Stride, A; Vaxillaire, M; Tuomi, T et al. (2002). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (external link)
• Ræder, Helge; Ræder, Maria; Njølstad, Pål Rasmus (2002). Klinisk molekylærmedisin:DNA-sekvensering. (external link)
• Sagen, Jørn V.; Njølstad, Pål Rasmus; Søvik, Oddmund (2002). Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. (external link)
• Njølstad, P.R.; Sovik, O.; Cuesta-Munoz, A. et al. (2001). Neonatal diabetes mellitus due to complete glucokinase deficiency. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2001). Når betacellens glukosesensor svikter. (external link)
• Njølstad, Pål Rasmus; Aarskog, Dagfinn (2001). Klinisk molekylærmedisin (1):Diagnostikk av større delesjoner og rearrangementer. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2001). Ny type diabetes: Medfødt diabetes kan nå knyttes til MODY. (external link)
• Søvik, Oddmund; Njølstad, Pål Rasmus; Reigstad, Hallvard et al. (2001). Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris?. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund; Cuesta-Munoz, Antonio et al. (2001). Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. (external link)
• Njølstad, Pål Rasmus; Engebretsen, Lars Fredrik; Molven, Anders et al. (2001). MODY-prosjektet ved Haukeland Sykehus: fra forskning til diagnostikk. (external link)
• Bjørkhaug, Lise; Njølstad, Pål Rasmus; Søvik, Oddmund et al. (2001). N EONATAL D IABETES M ELLITUS D UE TO C OMPLETE G LUCOKINASE D EFICIENCY. (external link)
• Bjørkhaug, Lise; Horikawa, Y; Ye, Hong et al. (2000). MODY associated with two novel hepatocyte nuclear factor 1 alpha loss of function mutations. (external link)
• Bjørkhaug, Lise; Søvik, Oddmund; Bell, Graeme I. et al. (2000). A simple test for the hot spot mutation P291fsinsC in MODY3. (external link)
• Baptista, Melisa J; Fairbrother, Una L; Howard, Catherine M et al. (2000). Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?. (external link)
• Aarskog, Dagfinn; Njølstad, Pål Rasmus; Bjerknes, Robert (2000). Klinisk dysmorfologi: En oversikt. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund; Bell, GI et al. (2000). A simple test for the high-frequency P291 fsinsC mutation in the HNF1 alpha/MODY3 gene. (external link)
• Bjørkhaug, L; Ye, H; Horikawa, Y et al. (2000). MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). (external link)
• Njølstad, P.R.; Søvik, Oddmund (1999). Nå kartlegges MODY. (external link)
• Njølstad, P.R.; Lindner, T; Horikawa, Y et al. (1999). A novel syndrome of renal dysfunction, genital malformation and diabetes associated with mutation in hepatocyte nuclear factor-1ß. (external link)
• Lindner, Tom H; Njølstad, Pål Rasmus; Horikawa, Y 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. (external link)
• Salvesen, Helga; Njølstad, PR (1999). Blandt mordere og Nobel-prisvinnere i Chicago. (external link)
• Bjerknes, Robert; Rosendahl, Karen; Gjelland, K. et al. (1998). Ultralydsundersøkele av genitalia interna hos jenter med pubertas precox. (external link)
• Bjerknes, Robert; Kittang, O. B.; Njølstad, Pål Rasmus et al. (1998). Utredning ved mistanke om Cushing syndrom. (external link)
• Njølstad, PR; Reigstad, H; Westby, J et al. (1998). Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund; Cockburn, B. N. et al. (1998). Ikke-insulinkrevende diabetes mellitus hos barn og unge voksne. (external link)
• Njølstad, Pål Rasmus; Bjerknes, Robert; Aarskog, Dagfinn (1998). Apert syndrom. (external link)
• Njølstad, Pål Rasmus; Cockburn, B. N.; Bell, G. I. et al. (1998). A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young (MODY). (external link)
• Johnson, D.; Horsley, S. H.; Moloney, D. M. et al. (1998). A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. (external link)
• Søvik, Oddmund; Knudtzon, J.; Bjerknes, Robert et al. (1997). Nyoppdaget diabetes mellitus hos barn. (external link)
• Njølstad, P.R.; Søvik, Oddmund (1997). Ikke-insulinkrevende diabetis hos barn og unge voksne (MODY). (external link)
• Njølstad, P.R.; Skjeldal, O.; Agsteribbe, E. et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (1997). Ikke insulin-krevende diabetes hos barn og unge voksne (MODY). (external link)
• Hassoun, H.; Vassiliadis, J. N.; Murray, J. et al. (1997). Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. (external link)
• Njølstad, P.R.; Skjeldal, Ola; Agsteribbe, E. et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (external link)
• Njølstad, Pål Rasmus; Eiken, Hans Geir; Apold, Jaran (1994). A large Norwegian family with beta-spectrin-associated hereditary spehrocytosis. (external link)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1992). Disease free and cause specific survival in patients with papillary thyroid carcinoma. A multifactorial analysis. (external link)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1992). Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. (external link)
• Fjose, Anders; Njølstad, Pål Rasmus; Nornes, S. et al. (1992). Structure and early embryonic expression of the zebrafish engrailed-2 gene. (external link)
• Molven, Anders; Hordvik, Ivar; Njølstad, Pål Rasmus et al. (1992). The zebrafish homeobox gene Hox(zf-114): primary structure, expression pattern and evolutionary aspects. (external link)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1991). Thyroid carcinoma: Results from surgical treatment in 211consecutive patients. (external link)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1991). Thyroid carcinoma. Results from a uniform surgical strategy 1971-1985. (external link)
• Molven, Anders; Njølstad, Pål Rasmus; Fjose, Anders (1991). Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. (external link)

Lecture

• Ayorech, Ziada; Davies, Neil; Smith, George Davey et al. (2023). Causal risk factors for childhood eating behaviours and adulthood anorexia nervosa. A between and within family Mendelian randomisation study. (external link)

Report

• Wootton, Robyn E; Lawn, Rebecca B.; Magnus, Maria Christine et al. (2022). Health behaviours prior to pregnancy and fertility outcomes: Triangulation of evidence in the Norwegian Mother, Father and Child Cohort Study (MoBa). (external link)
• Corfield, Elizabeth Claire; Frei, Oleksandr; Shadrin, Alexey et al. (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: MoBaPsychGen pipeline v.1. (external link)
• Askeland, Ragna Bugge; Hannigan, Laurie John; Ask, Helga et al. (2020). Early manifestations of genetic risk for neurodevelopmental disorders. (external link)
• Hannigan, Laurie John; Askeland, Ragna Bugge; Ask, Helga et al. (2020). Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders. (external link)
• Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif (2009). Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. (external link)
• Randby, Hans; Njølstad, PR veileder (1999). Mutasjoner i veksthormonreseptorgenet hos idiopatisk kortvokste barn. (external link)
• Bjerknes, Robert; Andersen, G.; Miljeteig, K. et al. (1997). Kompetanseutvikling ved Barneklinikken, Haukeland Sykehus. (external link)

Academic lecture

• Corfield, Elizabeth Claire; Frei, Oleksandr; Shadrin, Alexey et al. (2022). The Norwegian Mother, Father, and Child cohort study (MoBa) genotyping data resource: the MoBaPsychGen_v1 pipeline. (external link)
• Bjune, Jan-Inge; Laber, Samantha; Dyer, Laurence et al. (2021). Epigenetic control of adipogenesis by Irx3. (external link)
• Lennox, Ziada Ayorech; Davies, Neil; Hannigan, Laurie John et al. (2020). Which Metabo-Psychiatric Factors Affect the Risk of Anorexia Nervosa? A Mendelian Randomization Study. (external link)
• Kaci, Alba; Aukrust, Ingvild; Njølstad, Pål Rasmus et al. (2019). Functional characterization of diabetes gene variants is important for precision medicine . (external link)
• Gagnum, Vibeke; Stene, Lars Christian; Sandvik, L 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.. (external link)
• Njølstad, Pål Rasmus (2010). Monogenic diabetes: An example of translational medicine. (external link)
• Njølstad, Pål Rasmus (2010). Single gene disorders causing diabetes. (external link)
• Njølstad, Pål Rasmus (2010). CEL mutations and pancreatic dysfunction. (external link)
• Njølstad, Pål Rasmus (2010). Carboxyl-ester lipase and diabetes. (external link)
• Njølstad, Pål Rasmus (2010). Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?. (external link)
• Njølstad, Pål Rasmus (2010). Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment. (external link)
• Njølstad, Pål Rasmus (2005). Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency. (external link)
• Njølstad, Pål Rasmus (2005). A novel syndrome of diabetes and exocrine deficiency. (external link)
• Njølstad, Pål Rasmus (2002). Diabetes og genetiske defekter i beta-cellens nettverk av faktorer. (external link)
• Njølstad, Pål Rasmus (2002). Gynekomasti. (external link)
• Sagen, Jørn; Njølstad, Pål Rasmus; Søvik, Oddmund (2002). Searching for MODY6 in Norwegian diabetic subjects. (external link)
• Njølstad, Pål Rasmus (2002). Adipositas. (external link)
• Njølstad, Pål Rasmus (2002). MODY og nyfødt-diabetes. (external link)
• Njølstad, Pål Rasmus (2002). MODY og type 2 diabetes hos barn og unge. (external link)
• Njølstad, Pål Rasmus (2002). Sikring av prøver ved alvorlig sykdomm og død. (external link)
• Njølstad, Pål Rasmus (2002). MODY and neonatal diabetes. (external link)
• Njølstad, Pål Rasmus (2002). Molekylærgenetisk diagnostikk. (external link)
• Sagen, Jørn; Njølstad, Pål Rasmus; Sivertsen, Å et al. (2002). Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi. (external link)
• Njølstad, Pål Rasmus (2002). Overvekt hos barn og unge: Økning? Behandling i almenpraksis?. (external link)
• Njølstad, Pål Rasmus (2002). Arvelig diabetes - også relevant for svangerskapsdiabetes?. (external link)
• Molven, Anders; Rishaug, U; Matre, G E et al. (2001). Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach. (external link)
• Njølstad, Pål Rasmus (2001). Permanent neonatal diabetes mellitus and MODY. (external link)
• Søvik, Oddmund; Sagen, Jørn; Njølstad, Pål Rasmus et al. (2001). A case of MODY5 with central nervous system involvement. (external link)
• Stride, A; Vaxillaire, M; Tuomi, T et al. (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (external link)
• Njølstad, Pål Rasmus; Bjørkhaug, L; Molven, A et al. (2000). Genetic and functional characterization of mutations in norwegian families with MODY diabetes. (external link)
• Njølstad, Pål Rasmus; Bjørkhaug, L; Grevle, Louise et al. (2000). Studies of HNF-1alfa mutations in Norwegian MODY3 families. (external link)
• Søvik, Oddmund; Njølstad, PR; Bjørkhaug, Lene et al. (1999). Maturity onset diabetes of the young (MODY): A Norwegian experience. (external link)
• Bjørkhaug, Lene; Njølstad, PR; Thorsby, P et al. (1999). Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young. (external link)
• Njølstad, PR; Lindner, T; Horikawa, Y 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. (external link)
• Njølstad, Pål Rasmus; Cockburn, B. N.; Bell, G. I. et al. (1998). A Norwegian family with MODY and a missense mutation, Val62Ala, in the glucokinase gene. (external link)
• Søvik, Oddmund; Lindner, T.; Njølstad, Pål Rasmus et al. (1998). A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (1998). Maturity-onset diabetes of the young (MODY). (external link)
• Sagen, Jørn V.; Njølstad, Pål Rasmus; Cockburn, B. N. et al. (1998). Mody 3 i en norsk familie. (external link)
• Tansek, M.; Njølstad, Pål Rasmus; Undlien, D. et al. (1998). Kongenitt diabetes: Omtale av to tilfeller. (external link)
• Sagen, Jørn V.; Njølstad, Pål Rasmus; Cockburn, B. N. et al. (1998). MODY3 in a Norwegian family with severe diabetic eye complications. (external link)
• Søvik, Oddmund; Lindner, T.; Njølstad, Pål Rasmus et al. (1998). Et nytt syndrom med Mody, progressiv ikke-diabetisk nefropati, genitale misdannelser, og mutasjon av hepatocytt nukleær transkripsjonsfaktor (HNF)-. (external link)
• Njølstad, Pål Rasmus; Wilkie, A. O. M.; Pedersen, S. J. (1997). Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2. (external link)
• Njølstad, P.R.; Hassoun, H.; Palek, J. et al. (1996). A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis. (external link)
• Njølstad, P.R.; Eiken, Hans Geir; Hassounbbe, H. et al. (1996). Mutasjon i beta-spectrin genet i en stor familie fra Sunnmøre med here ditær sfærocytose. (external link)
• Njølstad, PR; Eiken, Hans Geir; Apold, Jaran (1995). A large Norwegian family with beta-spectrin associated hereditary spherocytosis. (external link)

Abstract

• Eilertsen, Espen Moen; Cheesman, Rosa Catherine Gillespie; Ayorech, Ziada et al. (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. (external link)
• Hughes, Amanda; Morris, Tim; Ayorech, Ziada et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (external link)
• Wathle, Gaute K; Tjora, Erling; Njølstad, Pål Rasmus et al. (2013). Assessment of exocrine pancreatic funtion by secretin-stimulated MRCP and DWI in healthy controls and in patients with monogenic diabetes. (external link)
• Molven, Anders; Torsvik, Janniche; Johansson, Bente Berg et al. (2013). Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. (external link)
• Skrivarhaug, Torild; Stene, Lars Christian; Strøm, Hanne et al. (2010). Increasing incidence of childhood onset type 1 diabetes in Norway. (external link)
• Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif (2009). The Genotypes and Phenotypes of Diabetes. (external link)
• Allen, HL; Johansson, Stefan; Ellard, S et al. (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. (external link)
• Christesen, Henrik B. Thybo; Tribble, Nicholas D.; Molven, Anders et al. (2008). Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. (external link)
• de Beaufort, Carine; Skinner, Chas T.; Swift, Peter G F et al. (2008). Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. (external link)
• Fjeld, Karianne; Torsvik, Janniche; Johansson, Stefan et al. (2008). Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. (external link)
• Skrivarhaug, Torild; Bjørnvold, Marit; Undlien, Dag Erik et al. (2008). Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. (external link)
• Torsvik, Janniche; Johansson, Bente Berg; Johansson, Stefan et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (external link)
• Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte B. 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. (external link)
• Johansson, Stefan; Hertel, Jens Kristoffer; Midthjell, Kristian 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. (external link)
• Vesterhus, Mette; Johansson, Stefan; Ræder, Helge et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (external link)
• Tammaro, P; Girard, C; Molnes, Janne et al. (2005). Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. (external link)
• Porzio, O; Massa, O; Cunsolo, V et al. (2004). Mutations of transglutaminase 2 and early onset Type 2 diabetes. (external link)

Poster

• Eilertsen, Espen Moen; Cheesman, Rosa Catherine Gillespie; Ayorech, Ziada et al. (2022). A trio-gcta study of indirect and direct genetic effects on hyperactivity, inattention, conduct problems, and oppositional-defiant behaviors. (external link)
• Hannigan, Laurie John; Corfield, Elizabeth; Biele, Guido et al. (2021). The genomic basis of participation in the Norwegian Mother, Father and Child Cohort Study. (external link)
• Kaci, Alba; Aukrust, Ingvild; Bjørkhaug, Lise et al. (2019). Functional characterization of HNF1A variants identified in Norwegian MODY diabetes registry can implement precision medicine in diabetes clinics. (external link)
• Bjørkhaug, Lise; Kaci, Alba; Keindl, Magdalena et al. (2018). The E3 SUMO ligase PIAS is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1. (external link)
• Bjørkhaug, Lise; Aukrust, Ingvild; Kaci, Alba et al. (2018). Functional characterization of HNF1A variants identified in Norwegian diabetes registries can be important for precision medicine in diabetes clinics. (external link)
• Bjune, Jan-Inge; Haugen, Christine; Gudbrandsen, Oddrun Anita et al. (2018). Irx5 regulates body weight via amyloid precursor protein and mitochondrial respiration in adipocytes. (external link)
• Bjune, Jan-Inge; Haugen, Christine; Gudbrandsen, Oddrun Anita et al. (2018). Irx5 regulates body weight via amyloid precursor protein (App) and mitochondrial respiration in adipocytes. (external link)
• Bjørkhaug, Lise; Hornnes, Lorentze; Kaci, Alba et al. (2017). Functional analysis of various HNF4A variants identifies increased transactivation function of R85W causing the mutation specific phenotype of neonatal hyperinsulinism and Fanconi syndrome. (external link)
• Kaci, Alba; Njølstad, Pål Rasmus; Aukrust, Ingvild et al. (2017). The E3 SUMO ligase PIASy regulates the activity and stability of the transcription factor hepatocyte nuclear factor 1-alpha. (external link)
• Kaci, Alba; Molnes, Janne; Bjørkhaug, Lise et al. (2017). Functional characterization of all HNF4A variants in the Norwegian MODY and the Norwegian Childhood Diabetes Registries. (external link)
• Najmi, Laeya Abdoli; Althari, Sara; Bjørkhaug, Lise et al. (2017). Developing high throughput assays for functional classification of novel missense variants in HNF1A. (external link)
• Wathle, Gaute Kjellevold; Engjom, Trond; Lærum, Birger Norderud et al. (2015). Secretin stimulated MRCP in the evaluation of exocrine pancreatic function in cystic fibrosis. (external link)
• Aasmul, Liv; Tjora, Erling; Gudbrandsen, Oddrun Anita et al. (2014). From Manual to Automated Analysis of Lipase and Amylase in Duodenal Juice. (external link)
• Sagen, Jørn; Njølstad, Pål Rasmus; Sivertsen, Å et al. (2002). Role of HNF-1beta and Msx-1 in vaginal aplasie. (external link)
• Njølstad, Pål Rasmus; Dahl-Jørgensen, Knut; Sarici, U et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glukoinase mutations linked to severity of phenotype. (external link)
• Molven, Anders; Matre, G E; Jellum, E 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. (external link)
• Sagen, Jørn; Bostad, L; Njølstad, Pål Rasmus et al. (2002). The kidney disease in MODY5. A clinicopathological investigation of a Norwegian MODY5 family. (external link)
• Søvik, Oddmund; Matre, G E; Rishaug, U et al. (2002). familial hyperinsulinemic hypoglycemia with a mutation in the gene encoding short-chain 3-hydroxyacyl-coa dehydrogenase. (external link)
• Bjørkhaug, L; Sagen, Jørn; Thorsby, P et al. (2002). Hepatocyte nuclear factor-1alpha gene mutations and diabetes in Norway. (external link)
• Njølstad, Pål Rasmus; Dahl-Jørgensen, Knut; Sarici, U et al. (2002). Mild diabetes or permanent neonatal diabetes: Localization of glucoinase mutations linked to severity of phenotype. (external link)
• Njølstad, Pål Rasmus; Bjørkhaug, L; Horikawa, Y et al. (2000). Characterization of mutations in Norwegian MODY families by genetic and functional analyses. (external link)
• Bjørkhaug, L.; Molven, A.; Thorsby, Per et al. (1999). A molecular survey of norwegian families with MODY-type diabetes. (external link)

Interview Journal

• Johansson, Stefan; Njølstad, Pål Rasmus (2022). Har oppdaga kvifor Alvin er tjukkare enn Arthur. (external link)

Academic literature review

• Johansson, Bente Berg; Fjeld, Karianne; el Jellas, Khadija et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (external link)
• Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. (external link)
• Helgeland, Øyvind; Hertel, Jens Kristoffer; Molven, Anders et al. (2015). The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). (external link)
• Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette et al. (2012). The role of pancreatic imaging in monogenic diabetes mellitus. (external link)
• Molven, Anders; Njølstad, Pål Rasmus (2011). Role of molecular genetics in transforming diagnosis of diabetes mellitus. (external link)
• Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund et al. (2010). Fremskritt innen diabetesgenetikk. (external link)

Doctoral dissertation

• Solheim, Marie Holm; Njølstad, Pål Rasmus (2018). PI 3-kinase regulation of mice and men: Novel aspects of insulin and growth factor signaling. (external link)
• Irgens, Henrik Underthun; Njølstad, Pål Rasmus; Molven, Anders (2017). Targeted clinical and genetic investigations to identify monogenic diabetes. (external link)
• Njølstad, Pål Rasmus (1989). Structural and functional analysis of vertebrate homeobox genes using the zebrafish (Brachydanio rerio) as a model. (external link)

Editorial

• Molven, Anders; Njølstad, Pål Rasmus; Weiss, Frank Ulrich (2015). Lipase gene fusion: a new route to chronic pancreatitis. (external link)
• Njølstad, Pål Rasmus; Molven, Anders (2012). To test, or not to test: time for a MODY calculator?. (external link)
• Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus (2012). Skreddersydd medisin eller narsissomikk?. (external link)
• Njølstad, PR; Molven, Anders (2003). Forskere diskuterte arv og diabetes. (external link)
• Njølstad, Pål Rasmus (2001). Bare barn?. (external link)
• Aarskog, Dagfinn; Njølstad, Pål Rasmus (2001). Klinisk molekylærmedisin: en introduksjon. (external link)
• Bjerknes, Robert; Skadberg, Brit; Njølstad, Pål Rasmus (2001). Inhalasjonssteroider og vekst. (external link)

Feature article

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

Academic chapter/article/Conference paper

• Molven, Anders; Helgeland, Geir; Sandal, Tone et al. (2012). The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency. (external link)
• Søvik, Oddmund; Sagen, Jørn V.; Njølstad, Pål Rasmus (2008). MODY5 due to mutations in TCF2 (HNF-1ß): The clinical spectrum with special reference to urogenital malformations. (external link)
• Njølstad, Pål Rasmus; Molven, Anders; Søvik, Oddmund (2005). Diagnosis and mangement of MODY in a pediatric setting. (external link)
• Njølstad, Pål Rasmus (2004). Glucokinase and the regulation of blood sugar: A mathematical model predicts the threshold for glucose stimulated insulin release for GCK gene mutations that cause hyper- and hypoglycemia. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2004). Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency. (external link)
• Molven, Anders; Njølstad, Pål Rasmus; Fjose, Anders (1993). Pattern formation in fish embryos: Characterization of homebox genes from the zebrafish (Brachydranio rerio). (external link)

Popular scientific article

• Haldorsen, Ingfrid S.; Njølstad, Pål Rasmus (2011). Bildediagnostikk av pankreas ved monogen diabetes. (external link)
• Njølstad, Pål Rasmus; Molven, Anders (2010). Genetikk i fokus. (external link)
• Molven, Anders; Njølstad, Pål Rasmus (2010). Monogen diabetes i Norge. (external link)
• Njølstad, Pål Rasmus; Bjørkhaug, L (2003). Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. (external link)
• Njølstad, Pål Rasmus; Molven, Anders (2003). Forskere diskuterte arv og diabetes. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2003). Neonatal diabetes - permanent eller transient?. (external link)
• Njølstad, Pål Rasmus; Sagen, Jørn V. (2003). Klinisk molekylærmedisin (4): Koblingsanalyser. (external link)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2001). Løser gåten om arvelig diabetes. (external link)
• Njølstad, Pål Rasmus (1991). Onkogener - gener som kan forårsake kreftutvikling. (external link)
• Molven, Anders; Njølstad, Pål Rasmus (1991). Når beina sitter på hodet! Om bananfluer, fosterutvikling og homeobokser. (external link)

Reader opinion piece

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

Book review

• Njølstad, Pål Rasmus (2002). Aktuell ny nordisk lærebok i pediatri. (external link)
• Njølstad, Pål Rasmus (2002). Internasjonal pris til Dagfinn Aarskog. (external link)
• Njølstad, Pål Rasmus (2002). Bra om barnemat. (external link)
• Njølstad, Pål Rasmus (2000). Norsk Pasientskadeerstatning. 1999. (external link)
• Njølstad, Pål Rasmus (2000). Endometriecancer etter østrogenbehandling. (external link)
• Njølstad, Pål Rasmus; Rosendahl, Karen; Ersland, Lars (2000). Magnetisk resonans - forkortinger og ordforklaringer. (external link)
• Njølstad, Pål Rasmus (2000). Forsinket diagnostisering av medfødt hoftedysplasi. (external link)
• Njølstad, Pål Rasmus (2000). Erstatning og oppreisning for fjerning av friske eggstokker. (external link)
• Njølstad, Pål Rasmus (2000). Klage til Norsk Pasientskadeerstatning basert på opplysninger hentet fra internett. (external link)
• Njølstad, Pål Rasmus (2000). Ibuprofen ved persisterende ductus arteriosus. (external link)

Popular scientific lecture

• Njølstad, Pål Rasmus (2002). Diabetes og genetikk. (external link)
• Lindner, T.; Njølstad, Pål Rasmus; Søvik, Oddmund (1998). Twenty-five amino acid deletion in the transcription factor HNF-1ß associated kidney dysfunction and type 2 diabetes mellitus. (external link)

See a complete overview of publications in Cristin.