Hjem
Universitetet i Bergen
Pål Rasmus Njølstads bilde

Pål Rasmus Njølstad

Instituttleder
Klinisk institutt 2
  • E-postPal.Njolstad@uib.no
  • Telefon+47 55 97 51 53
  • Besøksadresse
    Haukeland universitetssykehus, Laboratoriebygget
  • Postadresse
    Postboks 7804
    5020 Bergen
Vitenskapelig artikkel
  • Hertel, Jens Kristoffer; Johansson, Stefan; Midthjell, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Molven, Anders. 2013. Type 2 diabetes genes : present status and data from Norwegian studies. Norsk Epidemiologi. 9-22.
  • Ragvin, Anja; Fjeld, Karianne; Weiss, F. Ulrich; Torsvik, Janniche; Aghdassi, Ali; Mayerle, Julia; Simon, Peter; Njølstad, Pål Rasmus; Lerch, Markus M.; Johansson, Stefan; Molven, Anders. 2013. The number of tandem repeats in the carboxyl-ester lipase (CEL) gene as a risk factor in alcoholic and idiopathic chronic pancreatitis. Pancreatology (Print). 29-32.
  • Tjora, Erling; Wathle, Gaute K; Engjom, Trond; Erchinger, Friedemann; Molven, Anders; Aksnes, Lage; Haldorsen, Ingfrid S.; Dimcevski, Georg Gjorgji; Njølstad, Pål Rasmus; Ræder, Helge. 2013. Severe pancreatic dysfunction but compensated nutritional status in monogenic pancreatic disease caused by carboxyl-ester lipase mutations. Pancreas. 1078-1084.
  • Aukrust, Ingvild; Bjørkhaug, Lise; Negahdar, Maria; Molnes, Janne; Johansson, Bente Berg; Müller, Yvonne; Haas, Wilhelm; Gygi, Steven P.; Søvik, Oddmund; Flatmark, Torgeir; Kulkarni, Rohit N; Njølstad, Pål Rasmus. 2013. SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. Journal of Biological Chemistry. 5951-5962.
  • Irgens, Henrik Underthun; Molnes, Janne; Johansson, Bente Berg; Ringdal, Monika; Skrivarhaug, Torild; Undlien, Dag Erik; Søvik, Oddmund; Joner, Geir; Molven, Anders; Njølstad, Pål Rasmus. 2013. Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. Diabetologia. 1512-1519.
  • Thanabalasingham, Gaya; Huffman, Jennifer; Kattla, Jayesh J.; Novokmet, Mislav; Rudan, Igor; Gloyn, Anna L.; Hayward, Caroline; Adamczyk, Barbara; Reynolds, Rebecca M.; Muzinic, Ana; Hassanali, Neelam; Pucic, Maja; Bennett, Amanda J.; Essafi, Abdelkader; Polasek, Ozren; Mughal, Saima A.; Redzic, Irma; Primorac, Dragan; Zgaga, Lina; Kolcic, Ivana; Hansen, Torben; Gašperíková, Daniela; Tjora, Erling; Strachan, Mark W. J.; Nielsen, Trine; Stanik, Juraj; Klimes, Iwar; Pedersen, Oluf; Njølstad, Pål Rasmus; Wild, Sarah H.; Gyllensten, Ulf; Gornik, Olga; Wilson, James F.; Hastie, Nicholas D.; Campbell, Harry; McCarthy, Mark I.; Rudd, Pauline M.; Owen, Katharine R.; Lauc, Gordan; Wright, Alan F. 2013. Mutations in HNF1A result in marked alterations of plasma glycan profile. Diabetes. 1329-1337.
  • Søvik, Oddmund; Irgens, Henrik Underthun; Molnes, Janne; Sagen, Jørn V.; Bjørkhaug, Lise; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2013. Monogenetic diabetes mellitus in Norway :. Norsk Epidemiologi. 55-60.
  • de Beaufort, Carine E.; Lange, Karin; Swift, Peter GF; Aman, Jan; Cameron, Fergus; Castaño, Luis; Dorchy, Harry; Fisher, Lynda K.; Hoey, Hilary; Kaprio, Eero A; Kocova, Mirjana; Neu, Andreas; Njølstad, Pål Rasmus; Phillip, Moshe; Schoenle, Eugen J; Robert, Jean J.; Urukami, Tatsuhiko; Vanelli, Maurizio; Danne, Thomas; Barrett, Tim; Chiarelli, Franco; Aanstoot, Henk-Jan; Mortensen, Henrik B. 2013. Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009. Pediatric Diabetes. 422-428.
  • Tjora, Erling; Wathle, Gaute K; Erchinger, Friedemann; Engjom, Trond; Molven, Anders; Aksnes, Lage; Haldorsen, Ingfrid S.; Dimcevski, Georg Gjorgji; Ræder, Helge; Njølstad, Pål Rasmus. 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. Diabetic Medicine. 946-955.
  • Teo, Adrian K.K.; Windmueller, Rebecca; Johansson, Bente Berg; Dirice, Ercument; Njølstad, Pål Rasmus; Tjora, Erling; Ræder, Helge; Kulkarni, Rohit N. 2013. Derivation of Human Induced Pluripotent Stem Cells from Patients with Maturity Onset Diabetes of the Young. Journal of Biological Chemistry. 5353-5356.
  • Jahnavi, S; Poovazhagi, V; Mohan, V; Bodhini, D; Raghupathy, P; Amutha, A; Suresh Kumar, P; Adhikari, P; Shriraam, M; Kaur, T; Das, AK; Molnes, Janne; Njølstad, Pål Rasmus; Unnikrishnan, R; Radha, V. 2013. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clinical Genetics. 439-445.
  • Flannick, Jason; Beer, Nicola L.; Bick, Alexander G.; Agarwala, Vineeta; Molnes, Janne; Gupta, Namrata; Burtt, Noël P.; Florez, Jose C.; Meigs, James B.; Taylor, Herman; Lyssenko, Valeriya; Irgens, Henrik Underthun; Fox, Erwin; Burslem, Frank; Johansson, Stefan; Brosnan, M. Julia; Trimmer, Jeff K.; Newton-Cheh, Christopher; Tuomi, Tiinamaija; Molven, Anders; Wilson, James G.; O'Donnell, Christopher J.; Kathiresan, Sekar; Hirschhorn, Joel N.; Njølstad, Pål Rasmus; Rolph, Tim; Seidman, Jonathan G.; Gabriel, Stacey; Cox, David R.; Seidman, Christine E.; Groop, Leif; Altshuler, David. 2013. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics. 1380-1385.
  • Elbarbary, Nancy S.; Tjora, Erling; Molnes, Janne; Lie, Benedicte Alexandra; Habib, Mohammad A.; Salem, Mona A.; Njølstad, Pål Rasmus. 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. Pediatric Diabetes. 466-472.
  • Sherif, Eman M.; Abdelmaksoud, Abeer A.; Elbarbary, Nancy S.; Njølstad, Pål Rasmus. 2013. An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide. Acta Diabetologica. 801-805.
  • Ræder, Helge; Vesterhus, Mette; El Ouaamari, Abdelfattah; Paulo, Joao A.; McAllister, Fiona E.; Liew, Chong Wee; Hu, Jiang; Kawamori, Dan; Molven, Anders; Gygi, Steven P.; Njølstad, Pål Rasmus; Kahn, C. Ronald; Kulkarni, Rohit N. 2013. Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (Maturity-Onset Diabetes of the young). PLOS ONE. 11 sider.
  • Gonc, E. Nazli; Ozturk, Burcu Bulum; Haldorsen, Ingfrid S.; Molnes, Janne; Immervoll, Heike ; Ræder, Helge; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2012. HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease. Pediatric Diabetes. e1-e5.
  • Negahdar, Maria; Aukrust, Ingvild; Johansson, Bente Berg; Molnes, Janne; Molven, Anders; Matschinsky, Franz M.; Søvik, Oddmund; Kulkarni, Rohit N; Flatmark, Torgeir; Njølstad, Pål Rasmus; Bjørkhaug, Lise. 2012. GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1705-1715.
  • Søvik, Oddmund; Aagenæs, Øystein; Eide, Stig Åge; Mackay, Deborah J.G.; Temple, I. Karen; Molven, Anders; Njølstad, Pål Rasmus. 2012. Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up. Pediatric Diabetes. 155-162.
  • Eike, Morten Christoph; Skinningsrud, Beate; Ronninger, Marcus; Stormyr, Alice; Kvien, Tore Kristian; Joner, Geir; Njølstad, Pål Rasmus; Førre, Øystein Thorleiv; Flatø, Berit; Alfredsson, Lars; Padyukov, Leonid; Undlien, Dag Erik; Lie, Benedicte Alexandra. 2012. CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations. Genes and Immunity. 431-436.
  • Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette; Molven, Anders; Njølstad, Pål Rasmus. 2011. The role of pancreatic imaging in monogenic diabetes. Nature Reviews Endocrinology.
  • Kilpelainen, TO; Qi, L; Brage, S.; Sharp, SJ; Sonestedt, E; Demerath, E; Ahmad, T.; Mora, S; Kaakinen, M; Sandholt, CH; Holzapfe, C; Autenrieth, CS; Hyppönen, E; Cauch, S; He, M; Kutalik, Z; Kumari, M; Stancakova, A; Meidtner, Karina; Balkau, B; Tan, JT; Mangino, M; Timpson, NJ; Song, Y; Zillikens, MC; Jablonski, KA; Garcia, ME; Johansson, Stefan; Bragg-Gresham, JL; Wu, Y; van Vliet-Ostaptchouk, JV; Onland-Moret, NC; Zimmermann, E; Rivera, NV; Tanaka, T; Stringham, HM; Silbernagel, G; Kanoni, S; Feitosa, MF; Snitker, S; Ruiz, JR; Metter, J; Larrad, MT; Atalay, M; Hakanen, M; Amin, N; Cavalcanti-Proença, C; Grøntved, Anders; Hallmans, G; Jansson, JO; Kuusisto, J; Kahonen, M; Lutsey, PL; Nolan, JJ; Palla, L; Pedersen, Oluf; Pérusse, L; Renström, F; Scott, RA; Shungin, D; Sovio, U; Tammelin, TH; Ronnemaa, T; Lakka, TA; Uusitupa, Matti; Rios, MS; Ferrucci, L; Bouchard, C; Meirhaeghe, A; Fu, M; Walker, M; Borecki, IB; Dedoussis, GV; Fritsche, A; Ohlsson, C; Boehnke, M; Bandinelli, S; van Duijn, CM; Ebrahim, S; Lawlor, DA; Gudnason, V; Harris, TB; Sørensen, TI; Mohlke, KL; Hofman, A; Uitterlinden, AG; Tuomilehto, Jaakko; Lehtimaki, T; Raitakari, O; Isomaa, B; Njølstad, Pål Rasmus; Florez, JC; Liu, S; Ness, A.; Spector, TD; Tai, ES; Froguel, Philippe; Boeing, H; Laakso, M; Marmot, M. 2011. Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Medicine. 14 sider.
  • Hertel, Jens Kristoffer; Johansson, Stefan; Sonestedt, Emily; Jonsson, Anna; Lie, Rolv T.; Platou, Carl Geoffrey Parrinder; Nilsson, Peter M; Rukh, Gull; Midthjell, Kristian; Hveem, Kristian; Melander, Olle; Groop, Leif; Lyssenko, Valeriya; Molven, Anders; Orho-Melander, Marju; Njølstad, Pål Rasmus. 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. Diabetes. 1637-1644.
  • Johansson, Bente Berg; Torsvik, Janniche; Bjørkhaug, Lise; Vesterhus, Mette; Ragvin, Anja; Tjora, Erling; Fjeld, Karianne; Hoem, Dag; Johansson, Stefan; Ræder, Helge; Lindquist, Susanne; Hernell, Olle; Cnop, Miriam; Saraste, Jaakko; Flatmark, Torgeir; Molven, Anders; Njølstad, Pål Rasmus. 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. Journal of Biological Chemistry. 34593-34605.
  • Molnes, Janne; Teigen, Knut; Aukrust, Ingvild; Bjørkhaug, Lise; Søvik, Oddmund; Flatmark, Torgeir; Njølstad, Pål Rasmus. 2011. Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. The FEBS Journal. 2372-2386.
  • Trewick, Anne L.; Moustafa, Julia S. El-Sayed; de Smith, Adam J.; Froguel, Philippe; Greve, Gottfried; Njølstad, Pål Rasmus; Coin, Lachlan J.M.; Blakemore, Alexandra I.F. 2011. Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry. Clinical Chemistry. 1188-1195.
  • Shahawy, Sarrah; Chan, Nathaniel; Ellard, Sian; Young, Elizabeth; Shahawy, Hassaan; Mace, John; Peverini, Ricardo; Chinnock, Richard; Njølstad, Pål Rasmus; Hattersley, Andrew T.; Hatout, Eba. 2011. A pathway to insulin independence in newborns and infants with diabetes. Journal of Perinatology. 567-570.
  • Thanabalasingham, Gaya; Shah, Nabi; Vaxillaire, Martine; Hansen, Torben; Tuomi, Tiinamaija; Gašperíková, Daniela; Szopa, Magdalena; Tjora, Erling; James, Tim J.; Loiseleur, F.; Kokko, P; Andersson, E.; Gaget, Stefan; Isomaa, Bo; Nowak, Natalia; Ræder, Helge; Stanik, Juraj; Njølstad, Pål Rasmus; Malecki, Maciej T.; Klimes, Iwar; Groop, Leif; Pedersen, O.; Froguel, Philippe; McCarthy, Mark I.; Gloyn, Anna L.; Owen, Katharine R. 2011. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia. 2801-2810.
  • Swift, Peter G F; Skinner, T. Chas; de Beaufort, Carine E.; Cameron, Fergus; Åman, Jan; Aanstoot, Henk-Jan; Castaño, Luis; Chiarelli, Francesco; Daneman, Dennis; Danne, Thomas; Dorchy, Harry; Hoey, Hillary; Kaprio, Eero A; Kaufman, Francine; Kocova, Mirjana; Mortensen, Henrik B; Njølstad, Pål Rasmus; Phillip, Moshe; Robertson, Kenneth J.; Schoenle, Eugen J; Urakami, Tatsuhiko ; Vanelli, Maurizio; Ackermann, Ralf W.; Skovlund, Søren E. 2010. Target setting in intensive insulin management is associated with metabolic control: the Hvidoere Childhood Diabetes Study Group Centre Differences Study 2005. Pediatric Diabetes. 271-278.
  • Allen, Hana Lango; Johansson, Stefan; Ellard, Sian; Shields, Beverley; Hertel, Jens Kristoffer; Ræder, Helge; Colclough, Kevin; Molven, Anders; Frayling, Timothy; Njølstad, Pål Rasmus; Hattersley, Andrew T.; Weedon, Michael N. 2010. Polygenic risk variants for Type 2 Diabetes susceptibility modify age at diagnosis in Monogenic HNF1A Diabetes. Diabetes. 266-271.
  • Vesterhus, Mette; Ræder, Helge; Kurpad, Amarnath J; Kawamori, Dan; Molven, Anders; Kulkarni, Rohit N; Kahn, C Ronald; Njølstad, Pål Rasmus. 2010. Pancreatic Function in Carboxyl-Ester Lipase Knockout Mice. Pancreatology (Print). 467-476.
  • Torsvik, Janniche; Johansson, Stefan; Johansen, Anders; Ek, Jakob; Minton, Jayne; Ræder, Helge; Ellard, Sian; Hattersley, Andrew; Pedersen, Oluf; Hansen, Torben; Molven, Anders; Njølstad, Pål Rasmus. 2010. Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Human Genetics. 55-64.
  • Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte B.; Andersen, Marie Louise Max; Sandal, Tone; de Wet, Heidi; Schwarcz, Erik; Åman, Jan; Swift, Peter G F; Kocova, Mirjana; Schönle, Eugen J; de Beaufort, Carine; Hougaard, Philip; Ashcroft, Frances M.; Molven, Anders; Knip, Mikael; Mortensen, Henrik B; Hansen, Lars; Njølstad, Pål Rasmus. 2010. Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 antibodies. BMC Endocrine Disorders.
  • Laborie, Lene Bjerke; Mackay, Deborah J.G. ; Temple, I. Karen; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2010. DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins. European Journal of Pediatrics. 207-213.
  • Skinningsrud, Beate; Lie, Benedicte; Husebye, Eystein S; Kvien, Tore K; Førre, Øystein; Flatø, Berit; Stormyr, Alice; Joner, Geir; Njølstad, Pål R; Egeland, Thore; Undlien, Dag E. 2010. A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis. Annals of the Rheumatic Diseases. 1471-1474.
  • Sandal, Tone; Laborie, Lene Bjerke; Brusgaard, Klaus; Eide, Stig Åge; Christesen, Henrik B.T.; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2009. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy. Clinical Genetics. 440-448.
  • Hattersley, Andrew; Bruining, Jan; Shield, Julian; Njølstad, Pål Rasmus; Donaghue, Kim. 2009. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 33-42.
  • Hoey, Hilary; Cameron, Fergus; Dorchy, Harry; Daneman, Denis; Mortensen, Henrik B; Kaprio, Eero A; Robert, Jean-Jaques; Danne, Thomas; Aanstoot, Henk-Jan; Phillip, Moshe; Vanelli, Maurizio; Chiarelli, Francesco; de Beaufort, Carine; Njølstad, Pål Rasmus; Castaño, Luis; Åman, Jan; Schönle, Eugen J; Swift, Peter G F; Robertson, Kenneth J.; Barrett, Timothy G; Fisher, Lynda K.; Skovlund, Soren E. 2009. Psychosocial factors are associated with metabolic control in adolescents: research from the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 9-14.
  • Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der; Steine, Solrun; Njølstad, Pål Rasmus; Houge, Gunnar; Prescott, Trine E. 2009. Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening. 2358-2361.
  • Lacbawan, F; Solomon, BD; Roessler, E; El-Jaick, K; Domene, S; Velez, JI; Zhou, N; Hadley, D; Balog, JZ; Long, R; Fryer, A; Smith, W; Omar, S; McLean, SD; Clarkson, K; Lichty, A; Clegg, NJ; Delgado, MR; Levey, E; Stashinko, E; Potocki, L; VanAllen, MI; Clayton-Smith, J; Donnai, D; Bianchi, DW; Juliusson, PB; Njølstad, Pål Rasmus; Brunner, HG; Carey, JC; Hehr, U; Musebeck, J; Wieacker, PF; Postra, A; Hennekam, RCM; van den Boogaard, MJH; van Haeringen, A; Paulussen, A; Herbergs, J; Schrander-Stumpel, CTRM; Janecke, AR; Chitayat, D; Hahn, J; McDonald-McGinn, DM; Zackai, EH; Dobyns, WB; Muenke, M. 2009. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 389-398.
  • Åman, Jan; Skinner, TC; de Beaufort, Carine E.; Aanstoot, H. J.; Swift, Peter G F; Cameron, F.; Daneman, Denis; Kaprio, Eero A; Danne, Thomas; Aanstoot, Henk-Jan; Phillip, Moshe; Chiarelli, Francesco; Dorchy, Harry; Mortensen, Henrik B; Robert, Jean-Jaques; Neu, Andreas; Hoey, Hilary; Vanelli, Maurizio; Urakami, Tatsuhiko ; Njølstad, Pål Rasmus. 2009. Associations between physical activity, sedentary behavior, and glycemic control in a large cohort of adolescents with type 1 diabetes: the Hvidoere Study Group on Childhood Diabetes. Pediatric Diabetes. 234-239.
  • Magitta, Ng'weina Francis; Wolff, Anette Susanne Bøe; Johansson, Stefan; Skinningsrud, Beate; Lie, Benedicte A; Myhr, Kjell-Morten; Undlien, Dag Erik; Joner, Geir; Njølstad, Pål Rasmus; Kvien, Tore K.; Førre, Øystein; Knappskog, Per Morten; Husebye, Eystein Sverre. 2009. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity. 120-124.
  • Bjørnvold, Marit; Munthe-Kaas, Monica Cheng; Egeland, Thore; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus; Akselsen, Hanne Elisabeth; Gervin, Kristina; Carlsen, Karin Cecilie Lødrup; Carlsen, Kai-Håkon; Undlien, Dag Erik. 2009. A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma. Genes and Immunity. 181-187.
  • Skinningsrud, Beate; Lie, Benedicte Alexandra; Husebye, Eystein; Kvien, TK; Førre, Øystein Thorleiv; Flatø, Berit; Stormyr, Alice; Joner, Geir; Njølstad, Pål R.; Egeland, Thore; Undlien, Dag Erik. 2009. A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis. Annals of the Rheumatic Diseases.
  • Søvik, Oddmund; Njølstad, Pål Rasmus; Jellum, Egil; Molven, Anders. 2008. Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome. Journal of Inherited Metabolic Disease.
  • Søvik, Oddmund; Juliusson, Petur; Hansen, Eirik V.; Njølstad, Pål Rasmus. 2008. Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. Pediatrisk Endokrinologi. 56-63.
  • Sandal, Tone; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. Pediatrisk Endokrinologi. 37-43.
  • Harries, Lorna W.; Locke, Jonathan M.; Shields, Beverley; Hanley, Neil A.; Hanley, Karen Piper; Steele, Anna; Njølstad, Pål Rasmus; Ellard, Sian; Hattersley, Andrew T. 2008. The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes. 1745-1752.
  • Vesterhus, Mette; Haldorsen, Ingfrid Salvesen; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2008. Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young. Journal of Clinical Endocrinology and Metabolism. 3505-3509.
  • Eide, Stig Åge; Ræder, Helge; Johansson, Stefan; Midthjell, Kristian; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 775-781.
  • Vesterhus, Mette; Ræder, Helge; Johansson, Stefan; Molven, Anders; Njølstad, Pål Rasmus. 2008. Pancreatic Exocrine Dysfunction in Maturity-Onset Diabetes of the Young Type 3. Diabetes Care. 306-310.
  • Vesterhus, Mette; Ræder, Helge; Aurlien, Harald; Gjesdal, Clara Gram; Bredrup, Cecilie; Holm, Pål Ivar; Molven, Anders; Bindoff, Laurence; Berstad, Arnold; Njølstad, Pål Rasmus. 2008. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 1738-1740.
  • Molven, Anders; Ringdal, Monika; Nordbo, AM; Raeeder, H; Stoy, J; Lipkind, Gregory M.; Steiner, Donald F. ; Philipson, Louis H.; Bergmann, Ines; Aarskog, Dagfinn; Undlien, Dag Erik; Joner, Geir; Sovik, O; Bell, Graeme I.; Njølstad, Pål Rasmus. 2008. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
  • Molven, A; Ringdal, M; Nordbø, AM; Raeder, H; Støy, J; Lipkind, GM; Steiner, DF; Philipson, LH; Bergmann, I; Aarskog, D; Undlien, DE; Joner, Geir; Søvik, Oddmund; Norwegian Childhood Diabetes, Study Group; Bell, GI; Njølstad, PR. 2008. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 1131-1135.
  • Haldorsen, Ingfrid Salvesen; Vesterhus, Mette; Ræder, Helge; Jensen, Dag K.; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2008. Lack of pancreatic body and tail in HNF1B mutation carriers. Diabetic Medicine. 782-787.
  • Bjørnvold, Marit; Undlien, DE; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus; Akselsen, HE; Gervin, Kristina; Rønningen, Kjersti Skjold; Stene, Lars Christian. 2008. Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes. Diabetologia. 589-596.
  • Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge; Midthjell, Kristian; Lyssenko, Valeriya; Groop, Leif; Molven, Anders; Njølstad, Pål Rasmus. 2008. Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Diabetologia. 971-977.
  • Njølstad, Pål Rasmus; Johansson, Stefan. 2008. EASD: genetikk of diabetes type 2. Diabetesforum. 4-5.
  • Sagen, Jørn V.; Bjørkhaug, Lise; Molnes, Janne; Ræder, Helge; Grevle, Louise; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2008. Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. Pediatric Diabetes. 442-449.
  • Molnes, Janne; Bjørkhaug, Lise; Søvik, Oddmund; Njølstad, Pål Rasmus; Flatmark, Torgeir. 2008. Catalytic activation of human glucokinase by substrate binding - residue contacts involved in the binding of D-glucose to the super-open form and conformational transitions. The FEBS Journal. 2467-2481.
  • Cameron, Fergus; Skinner, T. Chas; de Beaufort, Carine E.; Hoey, Hillary; Swift, Peter G F; Aanstoot, Henk-Jan; Åman, Jan; Martul, Pedro; Chiarelli, Francesco; Daneman, Denis; Danne, Thomas; Dorchy, Harry; Kaprio, Eero A; Kaufman, Francine; Kocova, Mirjana; Mortensen, Henrik B; Njølstad, Pål Rasmus; Phillip, Moshe; Robertson, Kenneth J; Schoenle, Eugen J; Urakami, Tatsuhiko ; Vanelli, Maurizio; Ackermann, Ralf W.; Skovlund, Søren E. 2008. Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes? Diabetic Medicine. 463-468.
  • Christesen, Henrik B.T.; Tribble, Nicholas D.; Molven, Anders; Siddiqui, Juveria; Sandal, Tone; Brusgaard, Klaus; Ellard, Sian; Njølstad, Pål Rasmus; Alm, Jan; Jacobsen, Bendt Brock; Hussain, Khalid; Gloyn, Anna L. 2008. Activating glucokinase (GCK) Mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. European Journal of Endocrinology. 27-34.
  • Magitta, Ng’weina Francis ; Bøe, AS; Johansson, S; Skinningsrud, Beate; Lie, Benedicte Alexandra; Myhr, KM; Undlien, Dag Erik; Joner, Geir; Njølstad, Pål R.; Kvien, Tore Kristian; Førre, Øystein Thorleiv; Knappskog, P.M.; Husebye, Eystein. 2008. A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes. Genes and Immunity.
  • Johansson, Stefan; Ræder, Helge; Eide, Stig Åge; Midthjell, Kristian; Hveem, Kristian; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2007. Studies in 3,523 Norwegians and meta-analysis in 11,571 subjects indicate that variants in the hepatocyte nuclear factor 4 alpha (HNF4A) P2 region are associated with type 2 diabetes in Scandinavians. Diabetes. 3112-3117.
  • Aamodt, Geir; Stene, Lars Christian; Njølstad, Pål; Søvik, Oddmund; Joner, Geir. 2007. Spatiotemporal trends and age-period-cohort modeling of the incidence of type 1 diabetes among children aged < 15 years in Norway 1973-1982 and 1989-2003. Diabetes Care. 884-889.
  • Ræder, Helge; Haldorsen, Ingfrid Salvesen; Ersland, Lars; Grüner, Renate; Taxt, Torfinn; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2007. Pancreatic lipomatosis is a structural marker in nondiabetic children with mutations in carboxyl-Ester lipase. Diabetes. 444-449.
  • Søvik, Oddmund; Tansek, Mojca Zerjav; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2007. Management of neonatal and infancy-onset diabetes mellitus. Endocrine Development. 94-105.
  • Laborie, Lene Bjerke; Søvik, Oddmund; Njølstad, Pål Rasmus. 2007. Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. Pediatrisk Endokrinologi. 23-28.
  • Søvik, Oddmund; Schubbert, Suzanne ; Houge, Gunnar; Steine, Solrun; Norgård, Gunnar; Engelsen, Bernt; Njølstad, Pål Rasmus; Shannon, Kevin; Molven, Anders. 2007. De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. Journal of Medical Genetics. 6 sider.
  • de Beaufort, Carine E.; Swift, Peter G F; Skinner, Chas T.; Aanstoot, Henk-Jan; Åman, Jan; Cameron, Fergus; Martul, Pedro; Chiarelli, Francesco; Daneman, Denis; Danne, Thomas; Dorchy, Harry; Hoey, Hilary; Kaprio, Eero A; Kaufman, Francine; Kocova, Mirjana; Mortensen, Henrik B; Njølstad, Pål Rasmus; Phillip, Moshe; Robertson, Kenneth J; Schoenle, Eugen J; Urakami, Tatsuhiko ; Vanelli, Maurizio. 2007. Continuing stability of center differences in pediatric diabetes care: Do advances in diabetes treatment improve outcome? The Hvidoere study group on childhood diabetes. Diabetes Care. 2245-2250.
  • Bjørkhaug, Lise; Molnes, Janne; Søvik, Oddmund; Njølstad, Pål Rasmus; Flatmark, Torgeir. 2007. Allosteric activation of human glucokinase by free polyubiquitin chains and its ubiquitin-dependent cotranslational proteasomal degradation. Journal of Biological Chemistry. 22757-22764.
  • Pearson, Ewan R.; Flechtner, Isabelle; Njølstad, Pål Rasmus; Malecki, Maciej T.; Flanagan, Sarah E.; Larkin, Brian; Ashcroft, Frances M.; Klimes, Iwar; Codner, Ethel; Iotova, Violeta; Slingerland, Annabelle S.; Shield, Julian; Robert, Jean-Jaques; Holst, Jens J.; Clark, Penny M.; Ellard, Sian; Søvik, Oddmund; Polak, Michel; Hattersley, Andrew T. 2006. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. New England Journal of Medicine. 467-477.
  • Ræder, Helge; Njølstad, Pål Rasmus. 2006. Ny type diabetes. Diabetesforum. 20-21.
  • Ræder, Helge; Johansson, Stefan; Holm, Pål I.; Haldorsen, Ingfrid S.; Mas, Eric; Sbarra, Véronique; Nermoen, Ingrid; Eide, Stig Åge; Grevle, Louise; Bjørkhaug, Lise; Sagen, Jørn V.; Aksnes, Lage; Søvik, Oddmund; Lombardo, Dominique; Molven, Anders; Njølstad, Pål Rasmus. 2006. Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. Nature Genetics. 54-62.
  • Hattersley, Andrew T.; Bruining, Jan; Shield, Julian; Njølstad, Pål Rasmus; Donaghue, Kim. 2006. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatric Diabetes. 352-360.
  • Proks, Peter; Girard, Christophe; Bævre, Halvor; Njølstad, Pål Rasmus; Ashcroft, Frances M. 2006. Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes and response to sulfonylurea therapy. Diabetes. 1731-1737.
  • Sagen, Jørn; Odili, Stella; Bjørkhaug, Lise; Zelent, Dorothy ; Buettger, Carol; Kwagh, Jae; Stanley, Charles; Dahl-Jørgensen, Knut; de Beaufort, Carine; Bell, Graeme I.; Han, Yi; Grimsby, Joseph; Taub, Rebecca; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus; Matschinsky, Franz M. 2006. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
  • Sagen, JV; Odili, S; Bjørkhaug, L.; Zelent, D; Buettger, C; Kwagh, J; Stanley, C; Dahl-Jørgensen, Knut; de Beaufort, CE; Bell, GI; Han, Y; Grimsby, J; Taub, R; Molven, A; Søvik, Oddmund; Njølstad, PR; Matschinsky, FM. 2006. From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 1713-1722.
  • Bjørnvold, M; Amundsen, SS; Stene, Lars Christian; Joner, Geir; Dahl-Jørgensen, Knut; Njølstad, Pål Rasmus; Ek, J; Ascher, H; Gudjonsdottir, AH; Lie, BA; Skinningsrud, B; Akselsen, HE; Rønningen, Kjersti Skjold; Sollid, LM; Undlien, DE. 2006. FOXP3 polymorphisms in type 1 diabetes and coeliac disease. Journal of Autoimmunity. 140-144.
  • Mackay, Deborah J.G. ; Boonen, Susanne Eriksen ; Clayton-Smith, Jill; Goodship, Judith; Hahnemann, Johanne M.D. ; Kant, Sarina G. ; Njølstad, Pål Rasmus; Robin, Nathaniel H. ; Robinson, David O.; Siebert, Reiner; Shield, Julian P.H. ; White, Helen E. ; Temple, Isabel Karen. 2006. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics. 262-269.
  • Ræder, Helge; Bjørkhaug, Lise; Johansson, Stefan; Mangseth, Kjersti; Sagen, Jørn V.; Hunting, Anne; Følling, Ivar; Johansen, Odd; Bjørgaas, Marit; Paus, Povel N.; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2006. A hepatocyte nuclear factor-4 alpha gene (HNF4A) P2 promoter haplotype linked with late-onset diabetes - Studies of HNF4A variants in the Norwegian MODY registry. Diabetes. 1899-1903.
  • Sagen, Jørn V.; Pearson, Ewan R.; Johansen, Anders; Spyer, Ghislaine; Søvik, Oddmund; Pedersen, Oluf; Njølstad, Pål Rasmus; Hattersley, Andrew T.; Hansen, Torben. 2005. Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1 alpha mutation carriers. Diabetic Medicine. 406-409.
  • Bjørkhaug, L.; Johansson, Stefan; Ræder, Helge; Thorsby, Per; Undlien, Dag Erik; Søvik, Oddmund; Molven, Anders; Sagen, J; Njølstad, Pål Rasmus. 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-72.
  • Gundersen, Lise Bj.; Johansson, Stefan; Ræder, Helge; Undlien, Dag E.; Molven, Anders; Søvik, Oddmund; Thorsby, Per; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2005. Molekylærgenetisk diagnostikk ved diabetes mellitus. Tidsskrift for Den norske legeforening. 2968-2972.
  • Tammaro, Paolo; Girard, Christophe; Molnes, Janne; Njølstad, Pål Rasmus; Ashcroft, Frances M. 2005. Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions. EMBO Journal. 2318-2330.
  • Gundersen, Lise Bj.; Bratland, Andre; Njølstad, Pål Rasmus; Molven, Anders. 2005. Functional dissection of the HNF-1alpha transcription factor: A study on nuclear localization and transcriptional activation. DNA and Cell Biology. 661-669.
  • Sagen, Jørn V.; Baumann, Maren E.; Salvesen, Helga; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2005. Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. Diabetic Medicine. 1012-1015.
  • Shehadeh, Naim; Bakri, D.; Gershoni-Baruch, R; Njølstad, Pål Rasmus. 2005. Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2). Diabetic Medicine. 994-998.
  • Sagen, Jørn V.; Ræder, Helge; Hathout, Eba; Gudmundsson, K; Bævre, H; Abuelo, D; Phornphutkul, C; Molnes, Janne; Bell, GI; Gloyn, AL; Hattersley, AT; Molven, Anders; Søvik, Oddmund; Njølstad, Pål Rasmus. 2004. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2 - Patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2713-2718.
  • Molven, Anders; Matre, GE; Duran, M; Wanders, RJ; Rishaug, U; Njølstad, Pål Rasmus; Jellum, E; Søvik, Oddmund. 2004. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes. 221-227.
  • Stene, Lars Christian; Joner, G; Njølstad, Pål Rasmus. 2004. Atopic disorders and risk of childhood-onset type 1 diabetes in individuals. Clinical and Experimental Allergy. 201-206.
  • Gloyn, AL; Pearson, ER; Antcliff, JF; Proks, P; Bruining, GJ; Slingerland, AS; Howard, N; Srinivasan, S; Silva, JMCL; Molnes, Janne; Edghill, EL; Frayling, TM; Temple, IK; Mackay, D; Shield, JPH; Sumnik, Z; van Rhijn, A; Wales, JKH; Clark, P; Gorman, S; Aisenberg, J; Ellard, S; Njølstad, Pål Rasmus; Ashcroft, FM; Hattersley, AT. 2004. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. New England Journal of Medicine. 1838-1849.
  • Njølstad, Pål Rasmus. 2003. Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. Diabetes. 2854-2860.
  • Njølstad, Pål Rasmus; Sagen, Jørn. 2003. Klinisk molekylærmedisin(4): koblingsanalyser. Pediatrisk Endokrinologi. 34-38.
  • Njølstad, Pål Rasmus; Bjørkhaug, L. 2003. Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. Pediatrisk Endokrinologi. 64-69.
  • Gundersen, Lise Bj.; Sagen, Jørn V.; Thorsby, P; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2003. Hepatocyte nuclear factor-1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 920-931.
  • Bjørkhaug, L; Sagen, Jørn V.; Thorsby, P; Søvik, Oddmund; Molven, Anders; Njølstad, Pål Rasmus. 2003. Hepatocyte nuclear factor- 1 alpha gene mutations and diabetes in Norway. Journal of Clinical Endocrinology and Metabolism. 920-931.
  • Njølstad, Pål Rasmus. 2003. Genetic variants of hepatocyte nuclear factor-1 beta in Chinese young-onset diabetic patients with nephropathy. Journal of diabetes and its complications. 369-373.
  • Njølstad, Pål Rasmus; Molven, Anders. 2003. Forskere diskuterte diabetes. Diabetes for helsepersonell. 12-14.
  • Sagen, Jørn V.; Bostad, Leif; Njølstad, Pål Rasmus; Søvik, Oddmund. 2003. Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. Kidney International. 793-800.
  • Sagen, Jørn V.; Bostad, Leif; Njølstad, Pål Rasmus; Søvik, Oddmund. 2003. Enlarged nephrons and severe non-diabetic nephropathy in hepatocyte nuclear factor (HNF)-1 beta mutation carriers. Kidney International. 793-800.
  • Stride, A; Vaxillaire, M; Tuomi, T; Barbetti, F; Njølstad, Pål Rasmus; Hansen, T; Costa, A; Conget, I; Pedersen, O; Søvik, Oddmund; Lorini, R; Groop, L; Frougel, P; Hattersley, AT; MODY GIFT, Consortium. 2002. The genetic abnormality in the beta-cell determines the response to an oral glucose load. Diabetologia. 427-435.
  • Sagen, Jørn V.; Njølstad, Pål Rasmus; Søvik, Oddmund. 2002. Reduced prevalence of late-diabetic complications in MODY3 with early diagnosis. Diabetic Medicine. 697-703.
  • Ræder, Helge; Ræder, Maria; Njølstad, Pål Rasmus. 2002. Klinisk molekylærmedisin:DNA-sekvensering. Pediatrisk Endokrinologi. 51-56.
  • Njølstad, Pål Rasmus. 2002. Klinisk molekylærmedisin(2):Diagnostikk av mindre mutasjoner. Pediatrisk Endokrinologi. 23-26.
  • Molven, Anders; Rishaug, U; Matre, G E; Njølstad, Pål Rasmus; Søvik, Oddmund. 2002. Hunting for a hypoglyecemia gene:Severe neonatal hypoglyecemia in a consanguineuos family. American Journal of Medical Genetics. 40-46.
  • Søvik, Oddmund; Sagen, Jørn; Njølstad, Pål Rasmus; Nyland, H; Myhr, K M. 2002. Contributions to the MODY5 phenotype. Journal of Inherited Metabolic Disease. 1-2.
  • Søvik, Oddmund; Njølstad, Pål Rasmus; Reigstad, Hallvard; Brackman, Damien; Teslo, Irene; Brunvand, Leif. 2001. Undersøkelse og behandling av barn med kongenitt hyperinsulinisme- til Paris for enhver pris? Tidsskrift for Den norske legeforening. 612-614.
  • Njølstad, Pål Rasmus; Søvik, Oddmund; Cuesta-Munoz, Antonio; Bjørkhaug, Lise; Massa, O; Barbetti, F; Undlien, D; Shiota, C; Magnusson, M A; Molven, Anders; Matschinsky, P; Bell, G I. 2001. Permanent neonatal diabetes mellitus due to complete glucoinase deficiency. New England Journal of Medicine. 1588-1592.
  • Njølstad, Pål Rasmus; Søvik, Oddmund. 2001. Når betacellens glukosesensor svikter. Diabetes. 58-59.
  • Njølstad, Pål Rasmus; Søvik, Oddmund. 2001. Ny type diabetes: Medfødt diabetes kan nå knyttes til MODY. Diabetes for helsepersonell. 25-27.
  • Njølstad, Pål Rasmus; Engebretsen, Lars Fredrik; Molven, Anders; Søvik, Oddmund. 2001. MODY-prosjektet ved Haukeland Sykehus: fra forskning til diagnostikk. Diabetes for helsepersonell. 23-24.
  • Njølstad, Pål Rasmus; Aarskog, Dagfinn. 2001. Klinisk molekylærmedisin (1):Diagnostikk av større delesjoner og rearrangementer. Pediatrisk Endokrinologi. 61-65.
  • Bjørkhaug, L; Ye, H; Horikawa, Y; Søvik, Oddmund; Molven, A; Njølstad, Pål Rasmus. 2000. MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X). Biochemical and Biophysical Research Communications - BBRC. 792-798.
  • Aarskog, Dagfinn; Njølstad, Pål Rasmus; Bjerknes, Robert. 2000. Klinisk dysmorfologi: En oversikt. Pediatrisk Endokrinologi. 29-37.
  • Njølstad, Pål Rasmus; Søvik, Oddmund; Bell, GI; Molven, A. 2000. A simple test for the high-frequency P291 fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 818-819.
  • Njølstad, P.R.; Søvik, Oddmund. 1999. Nå kartlegges MODY. Diabetes for helsepersonell. 24-25.
  • Salvesen, Helga; Njølstad, PR. 1999. Blandt mordere og Nobel-prisvinnere i Chicago. Tidsskrift for Den norske legeforening. 1164-1166.
  • Njølstad, P.R.; Lindner, T; Horikawa, Y; Bolstad, Anne Isine; Bell, G. I.; Søvik, Oddmund. 1999. A novel syndrome of renal dysfunction, genital malformation and diabetes associated with mutation in hepatocyte nuclear factor-1ß. Human Molecular Genetics. 2001-2008.
  • Bjerknes, Robert; Kittang, O. B.; Njølstad, Pål Rasmus; Bland, Jonathan; Knutzon, J. 1998. Utredning ved mistanke om Cushing syndrom. Pediatrisk Endokrinologi. 67-78.
  • Bjerknes, Robert; Rosendahl, Karen; Gjelland, K.; Njølstad, Pål Rasmus; Aarskog, Dagfinn. 1998. Ultralydsundersøkele av genitalia interna hos jenter med pubertas precox. Pediatrisk Endokrinologi. 20-28.
  • Njølstad, Pål Rasmus; Søvik, Oddmund; Cockburn, B. N.; Bell, G. I.; Følling, I.; Sagen, Jørn V. 1998. Ikke-insulinkrevende diabetes mellitus hos barn og unge voksne. Tidsskrift for Den norske legeforening. 1054-1057.
  • Njølstad, PR; Reigstad, H; Westby, J; Espeland, Ansgar. 1998. Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. European Journal of Pediatrics. 498-501.
  • Njølstad, Pål Rasmus; Bjerknes, Robert; Aarskog, Dagfinn. 1998. Apert syndrom. Pediatrisk Endokrinologi. 29-23.
  • Njølstad, Pål Rasmus; Cockburn, B. N.; Bell, G. I.; Søvik, Oddmund. 1998. A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young (MODY). Acta Paediatrica. 853-856.
  • Johnson, D.; Horsley, S. H.; Moloney, D. M.; Oldridge, M.; Twigg, S. R. F.; Walsh, S.; Barrow, M.; Njølstad, Pål Rasmus; Kunz, J.; Ashworth, G. J.; Wall, S. A.; et al., [Mangler fornavn]. 1998. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. American Journal of Human Genetics. 1282-1293.
  • Søvik, Oddmund; Knudtzon, J.; Bjerknes, Robert; Njølstad, Paal R. 1997. Nyoppdaget diabetes mellitus hos barn. Pediatrisk Endokrinologi. 5-15.
  • Njølstad, P.R.; Skjeldal, O.; Agsteribbe, E.; Huckriede, A.; Wannag, E.; Søvik, Oddmund; Waaler, Per-Erik. 1997. Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. Pediatric Neurology. 160-162.
  • Njølstad, P.R.; Søvik, Oddmund. 1997. Ikke-insulinkrevende diabetis hos barn og unge voksne (MODY). Pediatrisk Endokrinologi. 27-34.
  • Njølstad, Pål Rasmus; Søvik, Oddmund. 1997. Ikke insulin-krevende diabetes hos barn og unge voksne (MODY). Pediatrisk Endokrinologi. 27-34.
  • Hassoun, H.; Vassiliadis, J. N.; Murray, J.; Njølstad, Pål Rasmus; Rogus, J. J.; Ballas, S. K.; Schaffer, F.; Jarolim, P.; Brabec, V.; Palek, J. 1997. Characterisation of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood. 398-406.
  • Njølstad, Pål Rasmus; Eiken, Hans Geir; Apold, Jaran. 1994. A large Norwegian family with beta-spectrin-associated hereditary spehrocytosis. Nucl Acids Res suppl Miami Biotech Short Rep. 24.
  • Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A.; Albrektsen, Grethe; Viste, Asgaut; Søreide, Odd; Varhaug, Jan Erik. 1992. Thyroid carcinoma. Results from surgical treatment in 211 consecutive patients. European Journal of Surgery. 521-526.
  • Fjose, Anders; Njølstad, Pål Rasmus; Nornes, S.; Molven, Anders; Kraus, S. 1992. Structure and early embryonic expression of the zebrafish engrailed-2 gene. Mechanisms of Development. 51-62.
  • Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A.; Albrektsen, Grethe; Søreide, Odd; Varhaug, Jan Erik. 1992. Disease free and cause specific survival in patients with papillary thyroid carcinoma. A multifactorial analysis. European Journal of Surgery. 583-589.
  • Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A.; Abreksten, Grethe; Viste, Asgaut; Søreide, Odd; Varhaug, Jan Erik. 1991. Thyroid carcinoma: Results from surgical treatment in 211consecutive patients. European Journal of Surgery. 521-526.
  • Salvesen, Helga; Njølstad, Pål Rasmus; Akslen, Lars A.; Albrektsen, Grethe; Viste, Asgaut; Søreide, Odd; Varhaug, Jan Erik. 1991. Thyroid carcinoma. Results from a uniform surgical strategy 1971-1985. Acta Chirurgica Scandinavica. 521-526.
  • Molven, Anders; Njølstad, Pål Rasmus; Fjose, Anders. 1991. Genomic structure and restricted neural expression of the zebrafish wnt-1 (int-1) gene. EMBO Journal. 799-807.
Vitenskapelig foredrag
  • Kaci, Alba; Aukrust, Ingvild; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Svalastoga, Pernille; Molnes, Janne. 2019. Functional characterization of diabetes gene variants is important for precision medicine .
  • Gagnum, Vibeke; Stene, Lars Christian; Sandvik, L; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild. 2015. Causes of dealth in a cohort of childhood-onset type 1 diabetes diagnosed during 1973-2012. A Nationwide population-based study in Norway.
  • Njølstad, Pål Rasmus. 2010. Single gene disorders causing diabetes.
  • Njølstad, Pål Rasmus. 2010. Newly identified causes of monogenic diabetes in youth: Should a genetic counselor be a member of the pediatric diabetes team?
  • Njølstad, Pål Rasmus. 2010. Monogenic diabetes: The success of molecular genetics for improved diagnosis and treatment.
  • Njølstad, Pål Rasmus. 2010. Monogenic diabetes: An example of translational medicine.
  • Njølstad, Pål Rasmus. 2010. Carboxyl-ester lipase and diabetes.
  • Njølstad, Pål Rasmus. 2010. CEL mutations and pancreatic dysfunction.
  • Njølstad, Pål Rasmus. 2005. Mutations in Carboxyl-Ester Lipase Cause a Novel Sydrome of Diabetes and Pancreatic Exocrine Deficiency.
  • Njølstad, Pål Rasmus. 2005. A novel syndrome of diabetes and exocrine deficiency.
  • Njølstad, Pål Rasmus. 2002. Sikring av prøver ved alvorlig sykdomm og død.
  • Sagen, Jørn; Njølstad, Pål Rasmus; Søvik, Oddmund. 2002. Searching for MODY6 in Norwegian diabetic subjects.
  • Njølstad, Pål Rasmus. 2002. Overvekt hos barn og unge: Økning? Behandling i almenpraksis?
  • Sagen, Jørn; Njølstad, Pål Rasmus; Sivertsen, Å; Søvik, Oddmund. 2002. Mutasjoner i HNF-1beta (MODY5-genet) og MSX1 ved isolert Mullersk aplasi.
  • Njølstad, Pål Rasmus. 2002. Molekylærgenetisk diagnostikk.
  • Njølstad, Pål Rasmus. 2002. MODY og type 2 diabetes hos barn og unge.
  • Njølstad, Pål Rasmus. 2002. MODY og nyfødt-diabetes.
  • Njølstad, Pål Rasmus. 2002. MODY and neonatal diabetes.
  • Njølstad, Pål Rasmus. 2002. Gynekomasti.
  • Njølstad, Pål Rasmus. 2002. Diabetes og genetiske defekter i beta-cellens nettverk av faktorer.
  • Njølstad, Pål Rasmus. 2002. Arvelig diabetes - også relevant for svangerskapsdiabetes?
  • Njølstad, Pål Rasmus. 2002. Adipositas.
  • Stride, A; Vaxillaire, M; Tuomi, T; Barbetti, F; Njølstad, Pål Rasmus; Hansen, T; Costa, A; Conget, I; Pedersen, O; Søvik, Oddmund; Lorini, R; Groop, L; Frougel, P; Hattersley, [Mangler fornavn]. 2001. The genetic abnormality in the beta-cell determines the response to an oral glucose load.
  • Njølstad, Pål Rasmus. 2001. Permanent neonatal diabetes mellitus and MODY.
  • Molven, Anders; Rishaug, U; Matre, G E; Njølstad, Pål Rasmus; Søvik, Oddmund. 2001. Autosomal recessive glucagon deficiency and severe neonatal hypoglycemia: A candidate gene approach.
  • Søvik, Oddmund; Sagen, Jørn; Njølstad, Pål Rasmus; Nyland, H; Myhr, K M. 2001. A case of MODY5 with central nervous system involvement.
  • Njølstad, Pål Rasmus; Bjørkhaug, L; Grevle, Louise; Ye, H; Horikawa, Y; Molven, A; Søvik, Oddmund. 2000. Studies of HNF-1alfa mutations in Norwegian MODY3 families.
  • Njølstad, Pål Rasmus; Bjørkhaug, L; Molven, A; Søvik, Oddmund; Ye, H; Horikawa, Y. 2000. Genetic and functional characterization of mutations in norwegian families with MODY diabetes.
  • Njølstad, PR; Lindner, T; Horikawa, Y; Bolstad, Anne Isine; Søvik, Oddmund. 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.
  • Bjørkhaug, Lene; Njølstad, PR; Thorsby, P; Lindner, TH; Cockburn, B. N.; Molven, Anders; Søvik, Oddmund. 1999. Molecular genetic analyses of Norwegian families with maturity-onset diabetes of the young.
  • Søvik, Oddmund; Njølstad, PR; Bjørkhaug, Lene; Molven, Anders. 1999. Maturity onset diabetes of the young (MODY): A Norwegian experience.
  • Sagen, Jørn V.; Njølstad, Pål Rasmus; Cockburn, B. N.; Bell, G. I. 1998. Mody 3 i en norsk familie.
  • Njølstad, Pål Rasmus; Søvik, Oddmund. 1998. Maturity-onset diabetes of the young (MODY).
  • Sagen, Jørn V.; Njølstad, Pål Rasmus; Cockburn, B. N.; Bell, G. I.; Følling, I.; Søvik, Oddmund. 1998. MODY3 in a Norwegian family with severe diabetic eye complications.
  • Tansek, M.; Njølstad, Pål Rasmus; Undlien, D.; Søvik, Oddmund. 1998. Kongenitt diabetes: Omtale av to tilfeller.
  • Søvik, Oddmund; Lindner, T.; Njølstad, Pål Rasmus; Bell, G. I. 1998. Et nytt syndrom med Mody, progressiv ikke-diabetisk nefropati, genitale misdannelser, og mutasjon av hepatocytt nukleær transkripsjonsfaktor (HNF)-.
  • Søvik, Oddmund; Lindner, T.; Njølstad, Pål Rasmus; Bell, G. I. 1998. A novel syndrome with progressive renal disease, mild diabetes mellitus, genital malformations and mutation of hepatic nuclear transcription factor-1b.
  • Njølstad, Pål Rasmus; Cockburn, B. N.; Bell, G. I.; Søvik, Oddmund. 1998. A Norwegian family with MODY and a missense mutation, Val62Ala, in the glucokinase gene.
  • Njølstad, Pål Rasmus; Wilkie, A. O. M.; Pedersen, S. J. 1997. Twins with Apert syndrome and mutation in fibroblast growth factor receptor gene 2.
  • Njølstad, P.R.; Eiken, Hans Geir; Hassounbbe, H.; Palek, J. 1996. Mutasjon i beta-spectrin genet i en stor familie fra Sunnmøre med here ditær sfærocytose.
  • Njølstad, P.R.; Hassoun, H.; Palek, J.; Eiken, Hans Geir. 1996. A base insertion in exon 14 of beta-spectrin gene in a Norwegian family with hereditary spherocytosis.
  • Njølstad, PR; Eiken, Hans Geir; Apold, Jaran. 1995. A large Norwegian family with beta-spectrin associated hereditary spherocytosis.
Sammendrag/abstract
  • Molven, Anders; Torsvik, Janniche; Johansson, Bente Berg; Marie, Michael Bruno Eric; Fjeld, Karianne; Johansson, Stefan; Saraste, Jaakko; Njølstad, Pål Rasmus. 2013. Cellular re-uptake of secreted carboxyl-ester lipase protein in CEL-MODY, a syndrome of diabetes and pancreatic exocrine dysfunction. Diabetologia. S152-S152.
  • Wathle, Gaute K; Tjora, Erling; Njølstad, Pål Rasmus; Haldorsen, Ingfrid S. 2013. Assessment of exocrine pancreatic funtion by secretin-stimulated MRCP and DWI in healthy controls and in patients with monogenic diabetes. Acta Radiologica. 13-13.
  • Skrivarhaug, Torild; Stene, Lars Christian; Strøm, Hanne; Drivvoll, A. K.; Njølstad, Pål Rasmus; Joner, Geir. 2010. Increasing incidence of childhood onset type 1 diabetes in Norway. Diabetologia. S142-S142.
  • Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif. 2009. The Genotypes and Phenotypes of Diabetes. Journal of the Pancreas.
  • Allen, HL; Johansson, Stefan; Ellard, S; Shields, Beverley; Hertel, Jens Kristoffer; Raeder, H.; Colclough, K; Molven, Anders; Frayling, TM; Njolstad, PR; Hattersley, AT; Weedon, MN. 2009. Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Journal of Medical Genetics. S26-S26.
  • Johansson, Stefan; Hertel, Jens Kristoffer; Midthjell, Kristian; Molven, Anders; Njølstad, Pål Rasmus. 2008. The role of confirmed type 2 diabetes risk alleles on age-of-diagnosis in a Norwegian population based sample: the HUNT Study. Diabetologia. S129-S129.
  • Fjeld, Karianne; Torsvik, Janniche; Johansson, Stefan; Ek, Jakob; Flanagan, Sarah E.; Johansen, Anders; Ræder, Helge; Pedersen, Oluf; Hattersley, Andrew T.; Hansen, Torben; Molven, Anders; Njølstad, Pål Rasmus. 2008. Structural changes in the repeated region of the carboxyl-ester lipase (CEL) gene and the development of diabetes. Diabetologia. S123-S123.
  • Pörksen, Sven; Laborie, Lene Bjerke; Nielsen, Lotte B.; de Wet, Hayley; Schvarcz, Erik; Sandal, Tone; Åman, Jan; Swift, Peter G F; Hougaard, Philip; Ashcroft, Frances M.; Molven, Anders; Knip, Mikael; Hansen, Lars; Njølstad, Pål Rasmus; Mortensen, Henrik B. 2008. SUR mutation in type 1 diabetes: autoimmunity prevents sulfonylurea rescue of diabetes caused by SUR1 mutation. Results from the Hvidore Study Group. Diabetologia. S116-S116.
  • Torsvik, Janniche; Johansson, Bente Berg; Johansson, Stefan; Saraste, Jaakko; Njølstad, Pål Rasmus; Molven, Anders. 2008. Pancreatic exocrine dysfunction in diabetes: functional characterisation of the carboxyl-ester lipase gene. Diabetologia. S123-S124.
  • de Beaufort, Carine; Skinner, Chas T.; Swift, Peter G F; Aanstoot, Henk-Jan; Aman, Jan; Daneman, Dennis; Njølstad, Pål Rasmus; Cameron, Fergus; Martul, Pedro; Mortensen, Henrik B; Hoey, Hilary; Kocova, Mirjana; Dorchy, Harry; Kaprio, Eero A; Phillip, Moshe; Kaufmann, Francine; Schoenle, Eugen J; Vanelli, Maurizio; Urakami, Tatsuhiko ; Chiarelli, Francesco; Robertson, Kenneth J; Danne, Thomas; Skovlund, Søren E.; Ackerman, Ralph. 2008. Intensive insulin management - An attitude not a regimen: The Hvidoere study group for childhood diabetes: center differences study. Hormone Research. 202-203.
  • Christesen, Henrik B. Thybo; Tribble, Nicholas D.; Molven, Anders; Siddiqi, Juveria; Sandal, Tone; Brusgaard, Klaus; Ellard, Sian; Njølstad, Pål Rasmus; Alm, Jan; Jacobsen, Bendt Brock; Hussain, Khalid; Gloyn, Anna L. 2008. Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. Hormone Research. 41-41.
  • Skrivarhaug, Torild; Bjørnvold, Marit; Undlien, Dag Erik; Njølstad, Pål Rasmus; Joner, Geir. 2008. Classification of childhood-onset diabetes in Norway - The Norwegian childhood diabetes registry. Diabetologia. S154-S154.
  • Vesterhus, Mette; Johansson, Stefan; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2007. Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. S123-S123.
  • Tammaro, P; Girard, C; Molnes, Janne; Njølstad, Pål Rasmus; Ashcroft, F. 2005. Two novel Kir6.2 mutations affecting the ATP sensitivity of the K-ATP channel are the cause of Permanent Neonatal Diabetes. Biophysical Journal. 285A-285A.
  • Porzio, O; Massa, O; Cunsolo, V; Hansen, T; Hattersley, AT; Njølstad, Pål Rasmus; Terrinoni, A; Melino, G; Federici, M; Marchetti, P; Colombo, C; Federici, G; Barbetti, F. 2004. Mutations of transglutaminase 2 and early onset Type 2 diabetes. Diabetologia. A137-A138.
Vitenskapelig oversiktsartikkel/review
  • Johansson, Bente Berg; Fjeld, Karianne; el Jellas, Khadija; Gravdal, Anny; Valvatne, Monica Dalva; Tjora, Erling; Ræder, Helge; Kulkarni, Rohit Rajesh; Johansson, Stefan; Njølstad, Pål Rasmus; Molven, Anders. 2018. The role of the carboxyl ester lipase (CEL) gene in pancreatic disease. 12-19.
  • Flannick, Jason; Johansson, Stefan; Njølstad, Pål Rasmus. 2016. Common and rare forms of diabetes mellitus: Towards a continuum of diabetes subtypes. 394-406.
  • Helgeland, Øyvind; Hertel, Jens Kristoffer; Molven, Anders; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Nygård, Ottar; Njølstad, Pål Rasmus; Johansson, Stefan. 2015. The chromosome 9p21 CVD- and T2D-associated regions in a Norwegian population (the HUNT2 survey). 9 sider.
  • Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette; Molven, Anders; Njølstad, Pål Rasmus. 2012. The role of pancreatic imaging in monogenic diabetes mellitus. 148-159.
  • Molven, Anders; Njølstad, Pål Rasmus. 2011. Role of molecular genetics in transforming diagnosis of diabetes mellitus. 313-320.
  • Njølstad, Pål Rasmus; Hertel, Jens Kristoffer; Søvik, Oddmund; Ræder, Helge; Johansson, Stefan; Molven, Anders. 2010. Fremskritt innen diabetesgenetikk. 1145-1149.

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