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.

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). (ekstern lenke)
• 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). (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)

Vitenskapelig artikkel

• 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. (ekstern lenke)
• Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa et al. (2024). Understanding the genetic complexity of puberty timing across the allele frequency spectrum. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Kaci, Alba; Solheim, Marie Holm; Silgjerd, Trine et al. (2024). Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. (ekstern lenke)
• 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. (ekstern lenke)
• Pavithram, Aishwarya; Zhang, Haichen; Maloney, Kristin A. et al. (2024). In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY. (ekstern lenke)
• Kind, Laura; Molnes, Janne; Tjora, Erling et al. (2024). Molecular mechanism of HNF-1A–mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Jaitner, Annika; Vaudel, Marc; Tsaneva-Atanasova, Krasimira et al. (2024). Smoking during pregnancy and its effect on placental weight: a Mendelian randomization study. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Solé-Navais, Pol; Juodakis, Julius; Ytterberg, Karin et al. (2024). Genome-wide analyses of neonatal jaundice reveal a marked departure from adult bilirubin metabolism. (ekstern lenke)
• 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. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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?. (ekstern lenke)
• Solé-Navais, Pol; Flatley, Christopher; Steinthorsdottir, Valgerdur et al. (2023). Genetic effects on the timing of parturition and links to fetal birth weight. (ekstern lenke)
• Kind, Laura; Driver, Mark; Raasakka, Arne et al. (2023). Structural properties of the HNF-1A transactivation domain. (ekstern lenke)
• Meling, Sondre V.; Tjora, Erling; Eichele, Heike et al. (2023). Rectal sensitivity correlated with gastrointestinal-mediated glucose disposal, but not the incretin effect. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Sanchez, Luis Francisco Hernandez; Burger, Bram; Campos, Rodrigo Alexander Castro et al. (2023). Extending protein interaction networks using proteoforms and small molecules. (ekstern lenke)
• Vasicek, Jakub; Skiadopoulou, Dafni; Kuznetsova, Ksenia et al. (2023). Finding haplotypic signatures in proteins. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Velde, Christoffer Drabløs; Reigstad, Hallvard; Tjora, Erling et al. (2023). Medfødt hyperinsulinisme. (ekstern lenke)
• 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. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Fjeld, Karianne; Svanbring, Anny Gravdal; Brekke, Ranveig Seim et al. (2022). The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice. (ekstern lenke)
• 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. (ekstern lenke)
• Flatley, Christopher; Sole-Navais, Pol; Vaudel, Marc et al. (2022). Placental weight centiles adjusted for age, parity and fetal sex. (ekstern lenke)
• Tijardović, Marko; Štambuk, Tamara; Juszczak, Agata et al. (2022). Fucosylated AGP glycopeptides as biomarkers of HNF1A-Maturity onset diabetes of the young. (ekstern lenke)
• Jami, Eshim S.; Hammerschlag, Anke R.; Ip, Hill F. et al. (2022). Genome-wide association meta-analysis of childhood and adolescent internalizing symptoms. (ekstern lenke)
• Helgeland, Øyvind; Vaudel, Marc; Sole-Navais, Pol et al. (2022). Characterization of the genetic architecture of infant and early childhood body mass index. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Isungset, Martin Arstad; Conley, Dalton C; Zachrisson, Henrik Daae et al. (2022). Social and genetic associations with educational performance in a Scandinavian welfare state. (ekstern lenke)
• Torvik, Fartein Ask; Eilertsen, Espen Moen; Hannigan, Laurie John et al. (2022). Modeling assortative mating and genetic similarities between partners, siblings, and in-laws. (ekstern lenke)
• Hannigan, Laurie John; Askeland, Ragna Bugge; Ask, Helga et al. (2021). Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population. (ekstern lenke)
• 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. (ekstern lenke)
• Elias-Assad, Ghadir; Saab, Raunak; Molnes, Janne et al. (2021). Maturity onset diabetes of the young type 2 (MODY2): Insight from an extended family. (ekstern lenke)
• Askeland, Ragna Bugge; Hannigan, Laurie J.; Ask, Helga et al. (2021). Early manifestations of genetic risk for neurodevelopmental disorders. (ekstern lenke)
• 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. (ekstern lenke)
• Lavrichenko, Ksenia; Helgeland, Øyvind; Njølstad, Pål Rasmus et al. (2021). SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. (ekstern lenke)
• Romuld, Ingunn Bratland; Kalleklev, Tine-Lise; Molnes, Janne et al. (2021). Impact of overweight on glucose homeostasis in MODY2 and MODY3. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Laisk, Triin; Soares, Ana Luiza G.; Ferreira, Teresa et al. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. (ekstern lenke)
• Solé-Navais, Pol; Bacelis, Jonas; Helgeland, Øyvind et al. (2020). Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios. (ekstern lenke)
• Malikova, Jana; Kaci, Alba; Dusatkova, Petra et al. (2020). Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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 . (ekstern lenke)
• Svalastoga, Pernille; Sulen, Åsta Nordsveen; Fehn, Jarle Røneid et al. (2020). Intellectual disability in KATP channel neonatal diabetes. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• Tapia, German; Mortimer, Georgina; Ye, Jody et al. (2019). Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Bjune, Jan-Inge; Dyer, Laurence; Røsland, Gro Vatne et al. (2019). The homeobox factor Irx3 maintains adipogenic identity. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos et al. (2019). PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi et al. (2018). Parental smoking and risk of childhood-onset type 1 diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Størdal, Ketil; McArdle, Harry J.; Hayes, Helen et al. (2018). Prenatal iron exposure and childhood type 1 diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Bjune, Jan-Inge; Haugen, Christine; Gudbrandsen, Oddrun Anita et al. (2018). IRX5 regulates adipocyte amyloid precursor protein and mitochondrial respiration in obesity. (ekstern lenke)
• Skinner, Timothy C; Lange, Karin S; Hoey, Hilary et al. (2018). Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. (ekstern lenke)
• 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. (ekstern lenke)
• Marouli, Eirini; Graff, Mariaelisa; Medina-Gomez, Carolina et al. (2017). Rare and low-frequency coding variants alter human adult height. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Kopczynski, Dominik; Barsnes, Harald; Njølstad, Pål Rasmus et al. (2017). PeptideMapper: Efficient and versatile amino acid sequence and tag mapping. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Gagnum, Vibeke; Stene, Lars Christian; Jenssen, Trond Geir et al. (2017). Causes of death in childhood-onset Type 1 diabetes: long-term follow-up. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Balamurugan, Kandasamy; Bjørkhaug, Lise; Mahajan, Swapnil et al. (2016). Structure–function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Lek, M; Aggregation Consortium, Exome; Njølstad, Pål Rasmus et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans.. (ekstern lenke)
• Fuchsberger, Christian; Flannick, Jason; Teslovich, Tanya M. et al. (2016). The genetic architecture of type 2 diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Winnay, Jonathon N.; Solheim, Marie Holm; Dirice, Ercument et al. (2016). PI3-kinase mutation linked to insulin and growth factor resistance in vivo. (ekstern lenke)
• Kaur, Simranjeet; Mirza, Aashiq H.; Brorsson, Caroline A. et al. (2016). The genetic and regulatory architecture of ERBB3-type 1 diabetes susceptibility locus. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Irgens, Henrik Underthun; Fjeld, Karianne; Johansson, Bente Berg et al. (2015). Glycogenin-2 is dispensable for liver glycogen synthesis and glucagon-stimulated glucose release. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Rozenkova, Klara; Malikova, Jana; Nessa, Azizun et al. (2015). High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Flannick, Jason; Thorleifsson, G; Beer, N et al. (2014). Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. (ekstern lenke)
• Rubio-Cabezas, Oscar; Hattersley, Andrew T.; Njølstad, Pål Rasmus et al. (2014). The diagnosis and management of monogenic diabetes in children and adolescents. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian et al. (2013). Type 2 diabetes genes : present status and data from Norwegian studies. (ekstern lenke)
• Irgens, Henrik Underthun; Molnes, Janne; Johansson, Bente Berg et al. (2013). Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (ekstern lenke)
• Cameron, Fergus; de Beaufort, Carine; Aanstoot, HJ et al. (2013). Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. (ekstern lenke)
• Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne et al. (2013). A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. (ekstern lenke)
• Chudasama, Kishan Kumar; Winnay, Jonathan; Johansson, Stefan et al. (2013). SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (ekstern lenke)
• Due, P.; de Beaufort, Carine; Damsgaard, MT 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)
• Sherif, Eman M.; Abdelmaksoud, Abeer A.; Elbarbary, Nancy S. et al. (2013). An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. (ekstern lenke)
• Flannick, Jason; Beer, Nicola L.; Bick, Alexander G. 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)
• Tjora, Erling; Wathle, Gaute K; Engjom, Trond et al. (2013). Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. (ekstern lenke)
• Ragvin, Anja; Fjeld, Karianne; Weiss, F. Ulrich et al. (2013). The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. (ekstern lenke)
• Ræder, Helge; Vesterhus, Mette; El Ouaamari, Abdelfattah 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)
• 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. (ekstern lenke)
• Thanabalasingham, Gaya; Huffman, Jennifer; Kattla, Jayesh J. et al. (2013). Mutations in HNF1A result in marked alterations of plasma glycan profile. (ekstern lenke)
• Aukrust, Ingvild; Bjørkhaug, Lise; Negahdar, Maria et al. (2013). SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Jahnavi, S; Poovazhagi, V; Mohan, V et al. (2013). Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. (ekstern lenke)
• de Beaufort, Carine E.; Lange, Karin; Swift, Peter GF et al. (2013). Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009. (ekstern lenke)
• Søvik, Oddmund; Irgens, Henrik Underthun; Molnes, Janne et al. (2013). Monogenetic diabetes mellitus in Norway :. (ekstern lenke)
• Søvik, Oddmund; Aagenæs, Øystein; Eide, Stig Åge et al. (2012). Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. (ekstern lenke)
• 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. (ekstern lenke)
• Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar et al. (2012). Exome sequencing and genetic testing for MODY. (ekstern lenke)
• Eike, Morten Christoph; Skinningsrud, Beate; Ronninger, Marcus et al. (2012). CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. (ekstern lenke)
• Negahdar, Maria; Aukrust, Ingvild; Johansson, Bente Berg et al. (2012). GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. (ekstern lenke)
• Kilpelainen, TO; Qi, L; Brage, S. et al. (2011). Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. (ekstern lenke)
• Shahawy, Sarrah; Chan, Nathaniel; Ellard, Sian et al. (2011). A pathway to insulin independence in newborns and infants with diabetes. (ekstern lenke)
• Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette et al. (2011). The role of pancreatic imaging in monogenic diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Vesterhus, Mette; Ræder, Helge; Kurpad, Amarnath J et al. (2010). Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Lacbawan, F; Solomon, BD; Roessler, E et al. (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. (ekstern lenke)
• Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der et al. (2009). Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Bjørnvold, Marit; Munthe-Kaas, Monica Cheng; Egeland, Thore et al. (2009). A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. (ekstern lenke)
• 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. (ekstern lenke)
• Sandal, Tone; Laborie, Lene Bjerke; Brusgaard, Klaus et al. (2009). The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. (ekstern lenke)
• Hattersley, Andrew; Bruining, Jan; Shield, Julian et al. (2009). The diagnosis and management of monogenic diabetes in children and adolescents. (ekstern lenke)
• Sagen, Jørn V.; Bjørkhaug, Lise; Molnes, Janne et al. (2008). Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. (ekstern lenke)
• Søvik, Oddmund; Njølstad, Pål Rasmus; Jellum, Egil et al. (2008). Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. (ekstern lenke)
• 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. (ekstern lenke)
• Søvik, Oddmund; Juliusson, Petur; Hansen, Eirik V. et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. (ekstern lenke)
• Vesterhus, Mette; Ræder, Helge; Johansson, Stefan et al. (2008). Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. (ekstern lenke)
• Njølstad, Pål Rasmus; Johansson, Stefan (2008). EASD: genetikk of diabetes type 2. (ekstern lenke)
• Vesterhus, Mette; Haldorsen, Ingfrid Salvesen; Ræder, Helge et al. (2008). Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. (ekstern lenke)
• 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. (ekstern lenke)
• Molven, Anders; Ringdal, Monika; Nordbø, Anita-Merete et al. (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (ekstern lenke)
• 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). (ekstern lenke)
• 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?. (ekstern lenke)
• Molven, A; Ringdal, M; Nordbø, AM et al. (2008). Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Sandal, Tone; Søvik, Oddmund; Njølstad, Pål Rasmus et al. (2008). Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. (ekstern lenke)
• Eide, Stig Åge; Ræder, H; Ræder, Helge et al. (2008). Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). (ekstern lenke)
• Haldorsen, Ingfrid Salvesen; Vesterhus, Mette; Ræder, Helge et al. (2008). Lack of pancreatic body and tail in HNF1B mutation carriers. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Laborie, Lene Bjerke; Søvik, Oddmund; Njølstad, Pål Rasmus (2007). Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. (ekstern lenke)
• Søvik, Oddmund; Tansek, Mojca Zerjav; Sagen, Jørn V. et al. (2007). Management of neonatal and infancy-onset diabetes mellitus. (ekstern lenke)
• 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. (ekstern lenke)
• Mackay, Deborah J.G. ; Boonen, Susanne Eriksen ; Clayton-Smith, Jill et al. (2006). A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. (ekstern lenke)
• Ræder, Helge; Njølstad, Pål Rasmus (2006). Ny type diabetes. (ekstern lenke)
• Bjørnvold, M; Amundsen, SS; Stene, Lars Christian et al. (2006). FOXP3 polymorphisms in type 1 diabetes and coeliac disease. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Ræder, Helge; Johansson, Stefan; Holm, Pål I. et al. (2006). Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. (ekstern lenke)
• Sagen, Jørn V.; Pearson, Ewan R.; Johansen, Anders et al. (2005). Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. (ekstern lenke)
• Shehadeh, Naim; Bakri, D.; Gershoni-Baruch, R et al. (2005). Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). (ekstern lenke)
• Bjørkhaug, L.; Johansson, Stefan; Ræder, Helge et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (ekstern lenke)
• Tammaro, Paolo; Girard, Christophe; Molnes, Janne et al. (2005). Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. (ekstern lenke)
• Sagen, Jørn V.; Baumann, Maren E.; Salvesen, Helga et al. (2005). Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. (ekstern lenke)
• Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge et al. (2005). Molekylærgenetisk diagnostikk ved diabetes mellitus. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Stene, Lars Christian; Joner, G; Njølstad, Pål Rasmus (2004). Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus (2003). Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. (ekstern lenke)
• Njølstad, Pål Rasmus (2003). Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. (ekstern lenke)
• Gundersen, Lise Bj.; Sagen, Jørn V.; Thorsby, P et al. (2003). Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus; Bjørkhaug, L (2003). Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. (ekstern lenke)
• Njølstad, Pål Rasmus; Molven, Anders (2003). Forskere diskuterte diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus; Sagen, Jørn (2003). Klinisk molekylærmedisin(4): koblingsanalyser. (ekstern lenke)
• Bjørkhaug, L; Sagen, Jørn V.; Thorsby, P et al. (2003). Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Molven, Anders; Rishaug, U; Matre, G E et al. (2002). Hunting for a hypoglyecemia gene:Severe neonatal hypoglyecemia in a consanguineuos family. (ekstern lenke)
• Søvik, Oddmund; Sagen, Jørn; Njølstad, Pål Rasmus et al. (2002). Contributions to the MODY5 phenotype. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. (ekstern lenke)
• Stride, A; Vaxillaire, M; Tuomi, T et al. (2002). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (ekstern lenke)
• Ræder, Helge; Ræder, Maria; Njølstad, Pål Rasmus (2002). Klinisk molekylærmedisin:DNA-sekvensering. (ekstern lenke)
• Sagen, Jørn V.; Njølstad, Pål Rasmus; Søvik, Oddmund (2002). Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2001). Når betacellens glukosesensor svikter. (ekstern lenke)
• Njølstad, Pål Rasmus; Aarskog, Dagfinn (2001). Klinisk molekylærmedisin (1):Diagnostikk av større delesjoner og rearrangementer. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2001). Ny type diabetes: Medfødt diabetes kan nå knyttes til MODY. (ekstern lenke)
• Søvik, Oddmund; Njølstad, Pål Rasmus; Reigstad, Hallvard et al. (2001). Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris?. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund; Cuesta-Munoz, Antonio et al. (2001). Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. (ekstern lenke)
• Njølstad, Pål Rasmus; Engebretsen, Lars Fredrik; Molven, Anders et al. (2001). MODY-prosjektet ved Haukeland Sykehus: fra forskning til diagnostikk. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, P.R.; Sovik, O.; Cuesta-Munoz, A. et al. (2001). Neonatal diabetes mellitus due to complete glucokinase deficiency. (ekstern lenke)
• Bjørkhaug, Lise; Horikawa, Y; Ye, Hong et al. (2000). MODY associated with two novel hepatocyte nuclear factor 1 alpha loss of function mutations. (ekstern lenke)
• Bjørkhaug, Lise; Søvik, Oddmund; Bell, Graeme I. et al. (2000). A simple test for the hot spot mutation P291fsinsC in MODY3. (ekstern lenke)
• 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?. (ekstern lenke)
• Aarskog, Dagfinn; Njølstad, Pål Rasmus; Bjerknes, Robert (2000). Klinisk dysmorfologi: En oversikt. (ekstern lenke)
• 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. (ekstern lenke)
• 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). (ekstern lenke)
• Njølstad, P.R.; Søvik, Oddmund (1999). Nå kartlegges MODY. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Salvesen, Helga; Njølstad, PR (1999). Blandt mordere og Nobel-prisvinnere i Chicago. (ekstern lenke)
• Bjerknes, Robert; Rosendahl, Karen; Gjelland, K. et al. (1998). Ultralydsundersøkele av genitalia interna hos jenter med pubertas precox. (ekstern lenke)
• Bjerknes, Robert; Kittang, O. B.; Njølstad, Pål Rasmus et al. (1998). Utredning ved mistanke om Cushing syndrom. (ekstern lenke)
• Njølstad, PR; Reigstad, H; Westby, J et al. (1998). Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund; Cockburn, B. N. et al. (1998). Ikke-insulinkrevende diabetes mellitus hos barn og unge voksne. (ekstern lenke)
• Njølstad, Pål Rasmus; Bjerknes, Robert; Aarskog, Dagfinn (1998). Apert syndrom. (ekstern lenke)
• 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). (ekstern lenke)
• 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. (ekstern lenke)
• Søvik, Oddmund; Knudtzon, J.; Bjerknes, Robert et al. (1997). Nyoppdaget diabetes mellitus hos barn. (ekstern lenke)
• Njølstad, P.R.; Søvik, Oddmund (1997). Ikke-insulinkrevende diabetis hos barn og unge voksne (MODY). (ekstern lenke)
• Njølstad, P.R.; Skjeldal, O.; Agsteribbe, E. et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund (1997). Ikke insulin-krevende diabetes hos barn og unge voksne (MODY). (ekstern lenke)
• Hassoun, H.; Vassiliadis, J. N.; Murray, J. et al. (1997). Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. (ekstern lenke)
• Njølstad, P.R.; Skjeldal, Ola; Agsteribbe, E. et al. (1997). Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. (ekstern lenke)
• Njølstad, Pål Rasmus; Eiken, Hans Geir; Apold, Jaran (1994). A large Norwegian family with beta-spectrin-associated hereditary spehrocytosis. (ekstern lenke)
• 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. (ekstern lenke)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1992). Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. (ekstern lenke)
• Fjose, Anders; Njølstad, Pål Rasmus; Nornes, S. et al. (1992). Structure and early embryonic expression of the zebrafish engrailed-2 gene. (ekstern lenke)
• Molven, Anders; Hordvik, Ivar; Njølstad, Pål Rasmus et al. (1992). The zebrafish homeobox gene Hox(zf-114): primary structure, expression pattern and evolutionary aspects. (ekstern lenke)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1991). Thyroid carcinoma: Results from surgical treatment in 211consecutive patients. (ekstern lenke)
• Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A. et al. (1991). Thyroid carcinoma. Results from a uniform surgical strategy 1971-1985. (ekstern lenke)
• Molven, Anders; Njølstad, Pål Rasmus; Fjose, Anders (1991). Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. (ekstern lenke)

Faglig foredrag

• 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. (ekstern lenke)

Rapport

• 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). (ekstern lenke)
• 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. (ekstern lenke)
• Askeland, Ragna Bugge; Hannigan, Laurie John; Ask, Helga et al. (2020). Early manifestations of genetic risk for neurodevelopmental disorders. (ekstern lenke)
• Hannigan, Laurie John; Askeland, Ragna Bugge; Ask, Helga et al. (2020). Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders. (ekstern lenke)
• Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif (2009). Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. (ekstern lenke)
• Randby, Hans; Njølstad, PR veileder (1999). Mutasjoner i veksthormonreseptorgenet hos idiopatisk kortvokste barn. (ekstern lenke)
• Bjerknes, Robert; Andersen, G.; Miljeteig, K. et al. (1997). Kompetanseutvikling ved Barneklinikken, Haukeland Sykehus. (ekstern lenke)

Vitenskapelig foredrag

• 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. (ekstern lenke)
• Bjune, Jan-Inge; Laber, Samantha; Dyer, Laurence et al. (2021). Epigenetic control of adipogenesis by Irx3. (ekstern lenke)
• 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. (ekstern lenke)
• Kaci, Alba; Aukrust, Ingvild; Njølstad, Pål Rasmus et al. (2019). Functional characterization of diabetes gene variants is important for precision medicine . (ekstern lenke)
• 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.. (ekstern lenke)
• Njølstad, Pål Rasmus (2010). Monogenic diabetes: An example of translational medicine. (ekstern lenke)
• Njølstad, Pål Rasmus (2010). Single gene disorders causing diabetes. (ekstern lenke)
• Njølstad, Pål Rasmus (2010). CEL mutations and pancreatic dysfunction. (ekstern lenke)
• Njølstad, Pål Rasmus (2010). Carboxyl-ester lipase and diabetes. (ekstern lenke)
• Njølstad, Pål Rasmus (2010). Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?. (ekstern lenke)
• Njølstad, Pål Rasmus (2010). Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment. (ekstern lenke)
• Njølstad, Pål Rasmus (2005). Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency. (ekstern lenke)
• Njølstad, Pål Rasmus (2005). A novel syndrome of diabetes and exocrine deficiency. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Diabetes og genetiske defekter i beta-cellens nettverk av faktorer. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Gynekomasti. (ekstern lenke)
• Sagen, Jørn; Njølstad, Pål Rasmus; Søvik, Oddmund (2002). Searching for MODY6 in Norwegian diabetic subjects. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Adipositas. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). MODY og nyfødt-diabetes. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). MODY og type 2 diabetes hos barn og unge. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Sikring av prøver ved alvorlig sykdomm og død. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). MODY and neonatal diabetes. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Molekylærgenetisk diagnostikk. (ekstern lenke)
• Sagen, Jørn; Njølstad, Pål Rasmus; Sivertsen, Å et al. (2002). Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Overvekt hos barn og unge: Økning? Behandling i almenpraksis?. (ekstern lenke)
• Njølstad, Pål Rasmus (2002). Arvelig diabetes - også relevant for svangerskapsdiabetes?. (ekstern lenke)
• Molven, Anders; Rishaug, U; Matre, G E et al. (2001). Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach. (ekstern lenke)
• Njølstad, Pål Rasmus (2001). Permanent neonatal diabetes mellitus and MODY. (ekstern lenke)
• Søvik, Oddmund; Sagen, Jørn; Njølstad, Pål Rasmus et al. (2001). A case of MODY5 with central nervous system involvement. (ekstern lenke)
• Stride, A; Vaxillaire, M; Tuomi, T et al. (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load. (ekstern lenke)
• Njølstad, Pål Rasmus; Bjørkhaug, L; Molven, A et al. (2000). Genetic and functional characterization of mutations in norwegian families with MODY diabetes. (ekstern lenke)
• Njølstad, Pål Rasmus; Bjørkhaug, L; Grevle, Louise et al. (2000). Studies of HNF-1alfa mutations in Norwegian MODY3 families. (ekstern lenke)
• Søvik, Oddmund; Njølstad, PR; Bjørkhaug, Lene et al. (1999). Maturity onset diabetes of the young (MODY): A Norwegian experience. (ekstern lenke)
• Bjørkhaug, Lene; Njølstad, PR; Thorsby, P et al. (1999). Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund (1998). Maturity-onset diabetes of the young (MODY). (ekstern lenke)
• Sagen, Jørn V.; Njølstad, Pål Rasmus; Cockburn, B. N. et al. (1998). Mody 3 i en norsk familie. (ekstern lenke)
• Tansek, M.; Njølstad, Pål Rasmus; Undlien, D. et al. (1998). Kongenitt diabetes: Omtale av to tilfeller. (ekstern lenke)
• Sagen, Jørn V.; Njølstad, Pål Rasmus; Cockburn, B. N. et al. (1998). MODY3 in a Norwegian family with severe diabetic eye complications. (ekstern lenke)
• 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)-. (ekstern lenke)
• Njølstad, Pål Rasmus; Wilkie, A. O. M.; Pedersen, S. J. (1997). Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, PR; Eiken, Hans Geir; Apold, Jaran (1995). A large Norwegian family with beta-spectrin associated hereditary spherocytosis. (ekstern lenke)

Sammendrag/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. (ekstern lenke)
• Hughes, Amanda; Morris, Tim; Ayorech, Ziada et al. (2021). The causal effect of BMI on neurodevelopment: a within family Mendelian randomization study using MoBa. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Skrivarhaug, Torild; Stene, Lars Christian; Strøm, Hanne et al. (2010). Increasing incidence of childhood onset type 1 diabetes in Norway. (ekstern lenke)
• Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif (2009). The Genotypes and Phenotypes of Diabetes. (ekstern lenke)
• 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. (ekstern lenke)
• Christesen, Henrik B. Thybo; Tribble, Nicholas D.; Molven, Anders et al. (2008). Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Skrivarhaug, Torild; Bjørnvold, Marit; Undlien, Dag Erik et al. (2008). Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. (ekstern lenke)
• Torsvik, Janniche; Johansson, Bente Berg; Johansson, Stefan et al. (2008). Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Vesterhus, Mette; Johansson, Stefan; Ræder, Helge et al. (2007). Pancreatic exocrine deficiency is common in MODY 3. (ekstern lenke)
• 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. (ekstern lenke)
• Porzio, O; Massa, O; Cunsolo, V et al. (2004). Mutations of transglutaminase 2 and early onset Type 2 diabetes. (ekstern lenke)

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. (ekstern lenke)
• Hannigan, Laurie John; Corfield, Elizabeth; Biele, Guido et al. (2021). The genomic basis of participation in the Norwegian Mother, Father and Child Cohort Study. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Bjune, Jan-Inge; Haugen, Christine; Gudbrandsen, Oddrun Anita et al. (2018). Irx5 regulates body weight via amyloid precursor protein and mitochondrial respiration in adipocytes. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Najmi, Laeya Abdoli; Althari, Sara; Bjørkhaug, Lise et al. (2017). Developing high throughput assays for functional classification of novel missense variants in HNF1A. (ekstern lenke)
• Wathle, Gaute Kjellevold; Engjom, Trond; Lærum, Birger Norderud et al. (2015). Secretin stimulated MRCP in the evaluation of exocrine pancreatic function in cystic fibrosis. (ekstern lenke)
• Aasmul, Liv; Tjora, Erling; Gudbrandsen, Oddrun Anita et al. (2014). From Manual to Automated Analysis of Lipase and Amylase in Duodenal Juice. (ekstern lenke)
• Sagen, Jørn; Njølstad, Pål Rasmus; Sivertsen, Å et al. (2002). Role of HNF-1beta and Msx-1 in vaginal aplasie. (ekstern lenke)
• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Sagen, Jørn; Bostad, L; Njølstad, Pål Rasmus et al. (2002). The kidney disease in MODY5. A clinicopathological investigation of a Norwegian MODY5 family. (ekstern lenke)
• 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. (ekstern lenke)
• Bjørkhaug, L; Sagen, Jørn; Thorsby, P et al. (2002). Hepatocyte nuclear factor-1alpha gene mutations and diabetes in Norway. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus; Bjørkhaug, L; Horikawa, Y et al. (2000). Characterization of mutations in Norwegian MODY families by genetic and functional analyses. (ekstern lenke)
• Bjørkhaug, L.; Molven, A.; Thorsby, Per et al. (1999). A molecular survey of norwegian families with MODY-type diabetes. (ekstern lenke)

Intervju tidsskrift

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

Vitenskapelig oversiktsartikkel/review

• Johansson, Bente Berg; Fjeld, Karianne; el Jellas, Khadija et al. (2018). The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. (ekstern lenke)
• Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus (2016). Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. (ekstern lenke)
• 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). (ekstern lenke)
• Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette et al. (2012). The role of pancreatic imaging in monogenic diabetes mellitus. (ekstern lenke)
• Molven, Anders; Njølstad, Pål Rasmus (2011). Role of molecular genetics in transforming diagnosis of diabetes mellitus. (ekstern lenke)
• Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund et al. (2010). Fremskritt innen diabetesgenetikk. (ekstern lenke)

Doktorgradsavhandling

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

Leder

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

Kronikk

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

Vitenskapelig Kapittel/Artikkel/Konferanseartikkel

• 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. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus; Molven, Anders; Søvik, Oddmund (2005). Diagnosis and mangement of MODY in a pediatric setting. (ekstern lenke)
• 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. (ekstern lenke)
• Njølstad, Pål Rasmus; Søvik, Oddmund (2004). Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency. (ekstern lenke)
• Molven, Anders; Njølstad, Pål Rasmus; Fjose, Anders (1993). Pattern formation in fish embryos: Characterization of homebox genes from the zebrafish (Brachydranio rerio). (ekstern lenke)

Populærvitenskapelig artikkel

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

Leserinnlegg

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

Anmeldelse

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

Populærvitenskapelig foredrag

• Njølstad, Pål Rasmus (2002). Diabetes og genetikk. (ekstern lenke)
• 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. (ekstern lenke)

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