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Pål Rasmus Njølstad

Head of Department
  • E-mailPal.Njolstad@uib.no
  • Phone+47 55 97 51 53
  • Visitor Address
    Haukeland universitetssykehus, Laboratoriebygget
  • Postal Address
    Postboks 7804
    5020 Bergen
Academic article
  • Zhang, Ge; Bacelis, Jonas; Lengyel, Candice; Teramo, Kari; Hallman, Mikko; Helgeland, Øyvind; Johansson, Stefan; Myhre, Ronny; Sengpiel, Verena; Njølstad, Pål Rasmus; Jacobsson, Bo; Muglia, Louis. 2015. Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis. PLoS Medicine. 23 pages.
  • Rubio-Cabezas, Oscar; Hattersley, Andrew T.; Njølstad, Pål Rasmus; Mlynarski, Wojciech; Ellard, Sian; White, Neil; Chi, Dung Vu; Craig, Maria E. 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 47-64.
  • Flannick, Jason; Thorleifsson, G; Beer, N; Jacobs, SBR; Grarup, N; Burtt, N; Mahajan, A; Fuchsberger, C; Atzmon, G; Benediktsson, R; Blangero, J; Bowden, D; Brandslund, I; Brosnan, J; Burslem, F; Chambers, J; Cho, Y; Christensen, C; Douglas, D; Duggirala, R; Dymek, Z; Farjoun, Y; Fennell, T; Fontanillas, P; Forsen, T; Gabriel, S; Glaser, B; Gudbjartsson, D; Hanis, C; Hansen, T; Hreidarsson, A; Hveem, Kristian; Ingelsson, E; Isomaa, B; Johansson, Stefan; Jorgensen, T; Jorgensen, M; Kathiresan, S; Kong, A; Kooner, J; Kravic, J; Laakso, M; Lee, J-Y; Lind, L; Lindgren, C; Linneberg, A; Masson, G; Meitinger, T; Mohlke, K; Molven, Anders; Morris, A; Potluri, S; Rauramaa, R; Ribel-Madsen, R; Richard, A-M; Rolph, T; Salomaa, V; Segre, A; Skarstrand, H; Steinthorsdottir, V; Stringham, H; Sulem, P; Tai, E; Teo, Y; Teslovich, T; Thorsteinsdottir, U; Trimmer, J; Tuomi, T; Tuomilehto, J; Vaziri-Sani, F; Voight, B; Wilson, J; Boehnke, M; McCarthy, M; Njølstad, Pål Rasmus; Pedersen, O; Groop, L; Cox, D; Stefansson, K; Altshuler, D. 2014. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genetics. 357-363.
  • Negahdar, Maria; Aukrust, Ingvild; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Sagen, Jørn V.; Dahl-Jørgensen, Knut; Kulkarni, Rohit Rajesh; Søvik, Oddmund; Flatmark, Torgeir; Njølstad, Pål Rasmus; Bjørkhaug, Lise. 2014. GCK-MODY diabetes as a protein misfolding disease: The mutation R275C promotes protein misfolding, self-association and cellular degradation. Molecular and Cellular Endocrinology. 55-65.
  • Torsvik, Janniche; Johansson, Bente Berg; Dalva, Monica; Marie, Michael Bruno Eric; Fjeld, Karianne; Johansson, Stefan; Bjørkøy, Geir; Saraste, Jaakko; Njølstad, Pål Rasmus; Molven, Anders. 2014. Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction. Journal of Biological Chemistry. 29097-29111.
  • Ræder, Helge; McAllister, Fiona E.; Tjora, Erling; Bhatt, Sheweta; Haldorsen, Ingfrid S.; Hu, Jiang; Willems, Stefan M.; Vesterhus, Mette; El Ouaamari, Abdelfattah; Liu, Manway; Ræder, Maria B; Immervoll, Heike ; Hoem, Dag; Dimcevski, Georg Gjorgji; Njølstad, Pål Rasmus; Molven, Anders; Gygi, Steven P.; Kulkarni, Rohit N. 2014. Carboxyl-ester lipase maturity-onset diabetes of the young is associated with development of pancreatic cysts and upregulated MAPK signaling in secretin-stimulated duodenal fluid. Diabetes. 259-269.
  • Estrada, Karol; Aukrust, Ingvild; Bjørkhaug, Lise; Bjørkhaug, Lise; Burtt, Noël P.; Mercader, Josep P.; García-Ortiz, Humberto; Huerta-Chagoya, Alicia; Moreno-Macías, Hortensia; Walford, Geoffrey; Flannick, Jason; Williams, Amy L.; Gómez-Vázquez, Maria J.; Fernandez-Lopez, Juan C.; Martínez-Hernández, Angélica; Jiménez-Morales, Silvia; Centeno-Cruz, Federico; Mendoza-Caamal, Elvia; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio; Córdova, Emilio J.; Soberón, Xavier; González-Villalpando, María E.; Henderson, Brian E.; Wilkens, Lynne R; Le Marchand, Loic; Arellano-Campos, Olimpia; Ordóñez-Sánchez, Maria L.; Rodríguez-Torres, Maribel; Rodríguez-Guillén, Rosario; Riba, Laura; Najmi, Laeya Abdoli; Jacobs, Susanne B.R.; Fennell, Timothy; Gabriel, Stacey; Fontanillas, Pierre; Hanis, Craig L; Lehman, Donna M.; Jenkinson, Christopher; Abboud, Hanna E.; Bell, Graeme I.; Cortes, Maria L.; Boehnke, Michael; González-Villalpando, Clicerio; Orozco, Lorena; Haiman, Christopher A.; Tusié-Luna, Teresa; Aguilar-Salinas, Carlos A.; Altshuler, David; Njølstad, Pål Rasmus; Florez, Jose C.; MacArthur, Daniel G. 2014. Association of a low-frequency variant in HNF1A with type 2 diabetes in a latino population the SIGMA Type 2 Diabetes Consortium. Journal of the American Medical Association (JAMA). 2305-2314.
  • Wathle, Gaute K; Tjora, Erling; Ersland, Lars; Dimcevski, Georg Gjorgji; Salvesen, Øyvind; Molven, Anders; Njølstad, Pål Rasmus; Haldorsen, Ingfrid S. 2014. Assessment of Exocrine Pancreatic Function by Secretin-Stimulated Magnetic Resonance Cholangiopancreaticography and Diffusion-Weighted Imaging in Healthy Controls. Journal of Magnetic Resonance Imaging. 448-454.
  • 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.
  • Chudasama, Kishan Kumar; Winnay, Jonathan; Johansson, Stefan; Claudi, Tor; König, Rainer; Haldorsen, Ingfrid S.; Johansson, Bente Berg; Woo, Ju Rang; Aarskog, Dagfinn; Sagen, Jørn V.; Kahn, C. Ronald; Molven, Anders; Njølstad, Pål Rasmus. 2013. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. American Journal of Human Genetics. 150-157.
  • 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.
  • Cameron, Fergus; de Beaufort, Carine; Aanstoot, HJ; Hoey, Hilary; Lange, Karin; Castaño, Luis; Mortensen, HB; Njølstad, Pål Rasmus; Hvidøre Study Group, [Mangler fornavn]; Aman, Jan; Atchison, J. A.; Barret, T; Bjørndalen, Hilde; Cameron, F J; Castro-Correia, C; Chiarelli, F.; Chiari, G; Dahl-Jørgensen, Knut; Daneman, D.; Danne, T.; Dorchy, Harry; Fisher, L; Kaufman, Francine; Garandeau, Patrick; Greene, Stephanie; Holl, R; Hougaard, P; Jarosz-Chobot, P; Kaprio, Eero A; Kitasato, NM; Kocova, M.; Lebenthal, Y; Martul, Pedro; Meier, LK; Neu, Andreas; Palmert, M; Phillips, M; Pociot, F; Robert, JJ; Robertson, KJ; Roche, Erin; Schoenle, E.; Shalitin, S; Skinner, TC; Skovlund, Søren E.; Søvik, Oddmund; Swift, Peter G F; Tsou, Rosa M; Urakami, Tatsuhiko; Vanelli, Maurizio. 2013. Lessons from the Hvidoere International Study Group on childhood diabetes: be dogmatic about outcome and flexible in approach. Pediatric Diabetes. 473-480.
  • 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.
  • Due, P.; de Beaufort, Carine; Damsgaard, MT; Mortensen, HB; Rasmussen, M; Ahluwalia, Namanjeet; Skinner, TC; Swift, Peter GF; Njølstad, Pål Rasmus; Cameron, Fergus; Dorchy, Harry; Daneman, Denis; Mortensen, Henrik B.; Kaprio, Eero A.; Robert, Jean-Jacques; Danne, Thomas; Neu, Andreas; Aanstoot, Henk-Jan; Hoey, Hilary; Phillip, Moshe; Vanelli, Maurizio; Chiarelli, Francesco; Urakami, Tatsuhiko; Kocova, Mirjana; Castaño, Luis; Åman, Jan; Schönle, Eugen J.; Swift, Peter; Robertson, Kenneth J.; Barrett, Timothy G.; Fisher, Lynda K.; Skovlund, Søren E. 2013. Do eating behaviors in the general population account for country variance in glycemic control among adolescents with diabetes: the Hvidoere Study Group and the Health Behaviour in School-Aged Children study. Pediatric Diabetes. 554-561.
  • 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 pages.
  • Eifes, Serge; Chudasama, Kishan Kumar; Molnes, Janne; Wagner, Kerstin; Hoang, Tuyen; Schierloh, Ulrike; Rocour-Brumioul, Danielle; Johansson, Stefan; Njølstad, Pål Rasmus; de Beaufort, Carine. 2013. A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes. Clinical Case Reports. 86-90.
  • 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.
  • Johansson, Stefan; Irgens, Henrik Underthun; Chudasama, Kishankumar; Molnes, Janne; Aerts, Jan; Roque, Francisco; Jonassen, Inge; Levy, Shawn; Lima, Kari; Knappskog, Per; Bell, Graeme I.; Molven, Anders; Njølstad, Pål Rasmus. 2012. Exome sequencing and genetic testing for MODY. PLOS ONE. 8 pages.
  • 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 pages.
  • 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.
  • Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, Helge; Platou, Carl Geoffrey Parrinder; Midthjell, Kristian; Hveem, Kristian; Molven, Anders; Njølstad, Pål Rasmus. 2011. Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study). BMC Medical Genetics. 6 pages.
  • 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.
  • Ragvin, Anja; Moro, Enrico; Fredman, David; Navratilova, Pavla; Drivenes, Øyvind; Engström, Pär; Alonso, M. Eva; de la Calle Mustienesg, Elisa; Skarmeta, José Luis Gómez; Tavares, Maria J.; Casares, Fernando; Manzanares, Miguel; van Heyningen, Veronica; Molven, Anders; Njølstad, Pål Rasmus; Argenton, Francesco; Lenhard, Boris; Becker, Thomas S. 2010. Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3. Proceedings of the National Academy of Sciences of the United States of America. 775-780.
  • 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.
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  • Bjørkhaug, Lise; Søvik, Oddmund; Bell, Graeme I.; Njølstad, Pål Rasmus; Molven, Anders. 2000. A simple test for the hot spot mutation P291fsinsC in MODY3. Diabetologia. 818-819.
  • 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.
  • Lindner, Tom H; Njølstad, Pål Rasmus; Horikawa, Y; Bostad, Leif; Bell, GI; Søvik, Oddmund. 1999. A novel syndrome of diabetes mellitus, renal dysfunction and genital malforation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Human Molecular Genetics. 2001-2008.
  • 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; 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.
  • 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.; Skjeldal, Ola; Agsteribbe, E.; Huckriede, A.; Wannag, Ebba; Søvik, Oddmund. 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.
  • 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.
  • 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.
Academic lecture
  • 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.
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.
Academic literature 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 pages.
  • 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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