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

Publikasjoner

Tidsskriftartikler

Helgeland, Øyvind; Vaudel, Marc; Juliusson, Petur Benedikt; Holmen, Oddgeir Lingaas; Juodakis, Julius; Bacelis, Jonas; Jacobsson, Bo; Lindekleiv, Haakon; Hveem, Kristian; Lie, Rolv T.; Knudsen, Gun Peggy Strømstad; Stoltenberg, Camilla; Magnus, Per; Sagen, Jørn V.; Molven, Anders; Johansson, Stefan; Njølstad, Pål Rasmus. 2019. Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth. Nature Communications. 10:4448: 1-10. doi: 10.1038/s41467-019-12308-0
Hernández Sánchez, Luis Francisco; Burger, Bram; Horro Marcos, Carlos; Fabregat, Antonio; Johansson, Stefan; Njølstad, Pål Rasmus; Barsnes, Harald; Hermjakob, Henning; Vaudel, Marc. 2019. PathwayMatcher: proteoform-centric network construction enables fine-granularity multi-omics pathway mapping. GigaScience. 8: 1-13. doi: 10.1093/gigascience/giz088
Liu, Xueping; Helenius, Dorte; Skotte, Line; Beaumont, Robin N.; Wielscher, Matthias; Geller, Frank; Juodakis, Julius; Mahajan, Anubha; Bradfield, Jonathan P.; Lin, Frederick T.J.; Vogelezang, Suzanne; Bustamante, Mariona; Ahluwalia, Tarunveer S.; Pitkänen, Niina; Wang, Carol A.; Bacelis, Jonas; Borges, Maria C.; Zhang, Ge; Bedell, Bruce A.; Rossi, Robert M.; Skogstrand, Kristin; Peng, Shouneng; Thompson, Wesley Kurt; Appadurai, Vivek; Lawlor, Debbie A.; Kalliala, Ilkka; Power, Christine; McCarthy, Mark I.; Boyd, Heather A.; Marazita, Mary L.; Hakonarson, Hakon; Hayes, M. Geoffrey; Scholtens, Denise M.; Rivadeneira, Fernando; Jaddoe, Vincent W.V.; Vinding, Rebecca K.; Bisgaard, Hans; Knight, Bridget A.; Pahkala, Katja; Raitakari, Olli; Helgeland, Øyvind; Johansson, Stefan; Njølstad, Pål Rasmus; Fadista, João; Schork, Andrew J.; Nudel, Ron; Miller, Daniel E.; Chen, Xiaoting; Weirauch, Matthew T.; Mortensen, Preben Bo; Børglum, Anders D.; Nordentoft, Merete; Mors, Ole; Hao, Ke; Ryckman, Kelli K.; Hougaard, David M.; Kottyan, Leah C.; Pennell, Craig E.; Lyytikäinen, Leo-Pekka; Bønnelykke, Klaus; Vrijheid, Martine; Felix, Janine F.; Lowe, William L.; Grant, Struan F.A.; Hyppönen, Elina; Jacobsson, Bo; Jarvelin, Marjo-Riitta; Muglia, Louis J.; Murray, Jeffrey C.; Freathy, Rachel M.; Werge, Thomas M.; Melbye, Mads; Buil, Alfonso; Feenstra, Bjarke. 2019. Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. Nature Communications. 10:3927: 1-13. doi: 10.1038/s41467-019-11881-8
Tapia, German; Mortimer, Georgina; Ye, Jody; Gillard, Benjamin Thomas; Chipper-Keating, Saranna; Mårild, Karl Staffan; Viken, Marte K; Lie, Benedicte Alexandra; Joner, Geir; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Størdal, Ketil; Gillespie, Kathleen; Stene, Lars Christian Mørch. 2019. Maternal microchimerism in cord blood and risk of childhood-onset type 1 diabetes. Pediatric Diabetes. 20: 728-735. doi: 10.1111/pedi.12875
Tapia, German; Mårild, Karl Staffan; Dahl, Sandra Rinne; Lund-Blix, Nicolai Andre; Viken, Marte K; Lie, Benedicte Alexandra; Njølstad, Pål Rasmus; Joner, Geir; Skrivarhaug, Torild; Cohen, Arieh S.; Størdal, Ketil; Stene, Lars Christian Mørch. 2019. Maternal and Newborn Vitamin D-Binding Protein, Vitamin D Levels, Vitamin D Receptor Genotype, and Childhood Type 1 Diabetes. Diabetes Care. 42: 553-559. doi: 10.2337/dc18-2176
Warrington, Nicole Maree; Beaumont, Robin N.; Horikoshi, Momoko; Day, Felix R.; Helgeland, Øyvind; Laurin, Charles; Bacelis, Jonas; Peng, Shouneng; Hao, Ke; Feenstra, Bjarke; Wood, Andrew R.; Mahajan, Anubha; Tyrrell, Jessica; Robertson, Neil R.; Rayner, N William; Qiao, Zhen; Moen, Gunn-Helen; Vaudel, Marc; Marsit, Carmen J.; Chen, Jia; Nodzenski, Michael; Schnurr, Theresia M.; Zafarmand, Mohammad H.; Bradfield, Jonathan P.; Grarup, Niels; Kooijman, Marjolein N.; Li-Gao, Ruifang; Geller, Frank; Ahluwalia, Tarunveer S.; Paternoster, Lavinia; Rueedi, Rico; Huikari, Ville; Hottenga, Jouke-Jan; Lyytikäinen, Leo-Pekka; Cavadino, Alana; Metrustry, Sarah; Cousminer, Diana L.; Wu, Ying; Thiering, Elisabeth; Wang, Carol A.; Have, Christian T.; Vilor-Tejedor, Natalia; Joshi, Peter K.; Painter, Jodie N.; Ntalla, Ioanna; Myhre, Ronny; Pitkänen, Niina; van Leeuwen, Elisabeth M.; Joro, Raimo; Lagou, Vasiliki; Richmond, Rebecca C.; Espinosa, Ana; Barton, Sheila J.; Inskip, Hazel M.; Holloway, John W.; Santa-Marina, Loreto; Estivill, Xavier; Ang, Wei; Marsh, Julie A.; Reichetzeder, Christoph; Marullo, Letizia; Hocher, Berthold; Lunetta, Kathryn L.; Murabito, Joanne M.; Relton, Caroline L.; Kogevinas, Manolis; Chatzi, Leda; Allard, Catherine; Bouchard, Luigi; Hivert, Marie-France; Zhang, Ge; Muglia, Louis J.; Heikkinen, Jani; Morgen, Camilla S.; van Kampen, Antoine H.C.; van Schaik, Barbera D.C.; Mentch, Frank D.; Langenberg, Claudia; Luan, Jian'an; Scott, Robert A.; Zhao, Jing Hua; Hemani, Gibran; Ring, Susan M.; Bennett, Amanda J.; Gaulton, Kyle J.; Fernandez-Tajes, Juan; van Zuydam, Natalie R.; Medina-Gomez, Carolina; de Haan, Hugoline Georgette; Rosendaal, Frits Richard; Kutalik, Zoltán; Marques-Vidal, Pedro; Das, Shikta; Willemsen, Gonneke; Mbarek, Hamdi; Müller-Nurasyid, Martina; Standl, Marie; Appel, Emil V.R.; Fonvig, Cilius E.; Trier, Caecilie; van Beijsterveldt, Catharina E.M.; Murcia, Mario; Bustamante, Mariona; Bonas-Guarch, Silvia; Hougaard, David M.; Mercader, Josep M.; Linneberg, Allan; Schraut, Katharina E.; Lind, Penelope A.; Medland, Sarah E.; Shields, Beverley M.; Knight, Bridget A.; Chai, Jin-Fang; Panoutsopoulou, Kalliope; Bartels, Meike; Sanchez, Friman; Stokholm, Jakob; Torrents, David; Vinding, Rebecca K.; Willems, Sara M.; Atalay, Mustafa; Chawes, Bo L.; Kovacs, Peter; Prokopenko, Inga; Tuke, Marcus A.; Yaghootkar, Hanieh; Ruth, Katherine S.; Jones, Samuel E.; Loh, Po-Ru; Murray, Anna; Weedon, Michael N.; Tönjes, Anke; Stumvoll, Michael; Michaelsen, Kim F.; Eloranta, Aino-Maija; Lakka, Timo A.; van Duijn, Cornelia M.; Kiess, Wieland; Körner, Antje; Niinikoski, Harri; Pahkala, Katja; Raitakari, Olli T.; Jacobsson, Bo; Zeggini, Eleftheria; Dedoussis, George V.; Teo, Yik-Ying; Saw, Seang-Mei; Montgomery, Grant W.; Campbell, Harry; Wilson, James F.; Vrijkotte, Tanja G.M.; Vrijheid, Martine; de Geus, Eco J.C.N.; Hayes, M. Geoffrey; Kadarmideen, Haja N.; Holm, Jens-Christian; Beilin, Lawrence J.; Pennell, Craig E.; Heinrich, Joachim; Adair, Linda S.; Borja, Judith B.; Mohlke, Karen L.; Eriksson, Johan G.; Widén, Elisabeth; Hattersley, Andrew T.; Spector, Tim D.; Kähönen, Mika; Viikari, Jorma S.; Lehtimäki, Terho; Boomsma, Dorret I.; Sebert, Sylvain; Vollenweider, Peter; Sørensen, Thorkild I.A.; Bisgaard, Hans; Bønnelykke, Klaus; Murray, Jeffrey C.; Melbye, Mads; Nohr, Ellen A.; Mook-Kanamori, Dennis O.; Rivadeneira, Fernando; Hofman, Albert; Felix, Janine F.; Jaddoe, Vincent W V; Hansen, Torben; Pisinger, Charlotta; Vaag, Allan A.; Pedersen, Oluf; Uitterlinden, André G.; Järvelin, Marjo-Riitta; Power, Christine; Hyppönen, Elina; Scholtens, Denise M.; Lowe, William L.; Davey Smith, George; Timpson, Nicholas J.; Morris, Andrew P.; Wareham, Nicholas J.; Hakonarson, Hakon; Grant, Struan F.A.; Frayling, Timothy M.; Lawlor, Debbie A.; Njølstad, Pål Rasmus; Johansson, Stefan; Ong, Ken K.; McCarthy, Mark I.; Perry, John R.B.; Evans, David M.; Freathy, Rachel M. 2019. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics. 51: 804-814. doi: 10.1038/s41588-019-0403-1

Beaumont, Robin N.; Warrington, Nicole M.; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C.; Paternoster, Lavinia; Bradfield, Jonathan P.; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L.; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J.; Espinosa, Ana; Marsh, Julie A.; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M.; Jones, Samuel E.; Kogevinas, Manolis; Lind, Penelope A.; Marullo, Letizia; Medland, Sarah E.; Murray, Anna; Murray, Jeffrey C.; Njølstad, Pål Rasmus; Nohr, Ellen A.; Reichetzeder, Christoph; Ring, Susan M.; Ruth, Katherine S.; Santa-Marina, Loreto; Scholtens, Denise M.; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A.; Vaudel, Marc; Weedon, Michael N.; Willemsen, Gonneke; Wood, Andrew R.; Yaghootkar, Hanieh; Muglia, Louis J.; Bartels, Meike; Relton, Caroline L.; Pennell, Craig E.; Chatzi, Leda; Estivill, Xavier; Holloway, John W.; Boomsma, Dorret I.; Montgomery, Grant W.; Murabito, Joanne M.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F.A.; Sørensen, Thorkild I.A.; Jaddoe, Vincent W.; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I.; Hattersley, Andrew T.; Hayes, M. Geoffrey; Hivert, Marie-France; Frayling, Timothy M.; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Evans, David M.; Lawlor, Debbie A.; Feenstra, Bjarke; Freathy, Rachel M. 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. Human Molecular Genetics. 27: 742-756. doi: 10.1093/hmg/ddx429
Bjune, Jan-Inge; Haugen, Christine; Gudbrandsen, Oddrun Anita; Nordbø, Ole Petter; Nielsen, Hans Jørgen; Våge, Villy; Njølstad, Pål Rasmus; Sagen, Jørn V.; Dankel, Simon N; Mellgren, Gunnar. 2018. IRX5 regulates adipocyte amyloid precursor protein and mitochondrial respiration in obesity. International Journal of Obesity. doi: 10.1038/s41366-018-0275-y
Bowman, Pamela; Sulen, Åsta Nordsveen; Barbetti, Fabrizio; Beltrand, Jacques; Svalastoga, Pernille; Codner, Ethel; Tessmann, Ellen H.; Juliusson, Petur Benedikt; Skrivarhaug, Torild; Pearson, Ewan R.; Flanagan, Sarah E.; Babiker, Tarig; Thomas, Nicholas J.; Shepherd, Maggie H.; Ellard, Sian; Klimes, Iwar; Szopa, Magdalena; Polak, Michel; Iafusco, Dario; Hattersley, Andrew T.; Njølstad, Pål Rasmus. 2018. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. The Lancet Diabetes and Endocrinology. 6: 637-646. doi: 10.1016/S2213-8587(18)30106-2
Engjom, Trond; Kavaliauskiene, Giedre; Tjora, Erling; Erchinger, Friedemann Georg; Wathle, Gaute Kjellevold; Lærum, Birger Norderud; Njølstad, Pål Rasmus; Frøkjær, Jens Brøndum; Gilja, Odd Helge; Dimcevski, Georg Gjorgji; Haldorsen, Ingfrid S. 2018. Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI. PLOS ONE. 13:e0201019: 1-16. doi: 10.1371/journal.pone.0201019
Hattersley, Andrew T.; Greeley, Siri A.W.; Polak, Michel; Rubio-Cabezas, Oscar; Njølstad, Pål Rasmus; Mlynarski, Wojciech; Castaño, Luis; Carlsson, Annelie; Raile, Klemens; Chi, Dung Vu; Ellard, Sian; Craig, Maria E. 2018. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes. 19: 47-63. doi: 10.1111/pedi.12772
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. Pancreatology (Print). 18: 12-19. doi: 10.1016/j.pan.2017.12.001
Kaci, Alba; Keindl, Magdalena; Solheim, Marie Holm; Njølstad, Pål Rasmus; Bjørkhaug, Lise; Aukrust, Ingvild. 2018. The E3 SUMO ligase PIASy is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1a. Scientific Reports. 8. doi: 10.1038/s41598-018-29448-w
Magnus, Maria Christine; Olsen, Sjurdur Frodi; Granström, Charlotta; Lund-Blix, Nicolai Andre; Svensson, Jannet; Johannesen, Jesper; Fraser, Abigail; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch. 2018. Paternal and maternal obesity but not gestational weight gain is associated with type 1 diabetes. International Journal of Epidemiology. 47: 417-426. doi: 10.1093/IJE/DYX266
Magnus, Maria Christine; Tapia, German; Olsen, Sjurdur Frodi; Granström, Charlotta; Mårild, Karl Staffan; Ueland, Per Magne; Midttun, Øivind; Svensson, Jannet; Johannesen, Jesper; Skrivarhaug, Torild; Joner, Geir; Njølstad, Pål Rasmus; Størdal, Ketil; Stene, Lars Christian Mørch. 2018. Parental smoking and risk of childhood-onset type 1 diabetes. Epidemiology. 29: 848-856. doi: 10.1097/EDE.0000000000000911
Skinner, Timothy C; Lange, Karin S; Hoey, Hilary; Mortensen, Henrik B; Aanstoot, Henk-Jan; Castaño, Luis; Skovlund, Søren E.; Swift, Peter GF; Cameron, Fergus J; Dorchy, Harry R; Palmert, Mark R; Kaprio, Eero A; Robert, Jean-Jacques; Danne, Thomas; Neu, Andreas; Shalitin, Shlomit; Chiarelli, Francesco; Chiari, Giovanni; Urakami, Tatsuhiko; Njølstad, Pål Rasmus; Jarosz-Chobot, Przemyslawa; Roche, Edna F; Castro-Correia, Cintia G; Kocova, Mirjana; Åman, Jan; Schönle, Eugen J; Barrett, Timothy G; Fisher, Lynda K.; de Beaufort, Carine E. 2018. Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes. Pediatric Diabetes. 19: 559-565. doi: 10.1111/pedi.12606
Solheim, Marie Holm; Winnay, Jonathon N.; Batista, Thiago M.; Molven, Anders; Njølstad, Pål Rasmus; Kahn, C. Ronald. 2018. Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes. Diabetes. 67: 1297-1309. doi: 10.2337/db17-1509
Størdal, Ketil; McArdle, Harry J.; Hayes, Helen; Tapia, German; Viken, Marte K; Lund-Blix, Nicolai Andre; Haugen, Margaretha; Joner, Geir; Skrivarhaug, Torild; Mårild, Karl Staffan; Njølstad, Pål Rasmus; Eggesbø, Merete Åse; Mandal, Siddhartha; Page, Christian; London, Stephanie J.; Lie, Benedicte Alexandra; Stene, Lars Christian Mørch. 2018. Prenatal iron exposure and childhood type 1 diabetes. Scientific Reports. 8. 11 sider. doi: 10.1038/s41598-018-27391-4
Tapia, German; Størdal, Ketil; Mårild, Karl Staffan; Kahrs, Christian Riddervold; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Joner, Geir; Stene, Lars Christian Mørch. 2018. Antibiotics, acetaminophen and infections during prenatal and early life in relation to type 1 diabetes. International Journal of Epidemiology. 47: 1538-1548. doi: 10.1093/ije/dyy092
Thorsen, Steffen U.; Mårild, Karl Staffan; Olsen, Sjurdur Frodi; Holst, Klaus; Tapia, German; Granström, Charlotta; Halldorsson, Thorhallur Ingi; Cohen, Arieh S.; Haugen, Margaretha; Lundqvist, Marika; Skrivarhaug, Torild; Njølstad, Pål Rasmus; Joner, Geir; Magnus, Per; Størdal, Ketil; Svensson, Jannet; Stene, Lars Christian Mørch. 2018. Lack of Association between Maternal or Neonatal Vitamin D Status and Risk of Childhood Type 1 Diabetes: A Scandinavian Case-Cohort Study. American Journal of Epidemiology. 187: 1174-1181. doi: 10.1093/aje/kwx361
Turcot, Valérie; Helgeland, Øyvind; Holmen, Oddgeir Lingaas; Johansson, Stefan; Njølstad, Pål Rasmus; Loos, Ruth J.F. 2018. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics. 50: 766-767. doi: 10.1038/s41588-018-0082-3
Turcot, Valérie; Lu, Yingchang; Highland, Heather M.; Schurmann, Claudia; Justice, Anne E.; Fine, Rebecca S.; Bradfield, Jonathan P.; Esko, Tonu; Giri, Ayush; Graff, Mariaelisa; Guo, Xiuqing; Hendricks, Audrey E.; Karaderi, Tugce; Lempradl, Adelheid; Locke, Adam E.; Mahajan, Anubha; Marouli, Eirini; Sivapalaratnam, Suthesh; Young, Kristin L.; Alfred, Tamuno; Feitosa, Mary F.; Masca, Nicholas G.D.; Manning, Alisa K.; Medina-Gomez, Carolina; Mudgal, Poorva; Ng, Maggie C.Y.; Reiner, Alex P.; Vedantam, Sailaja; Willems, Sara M.; Winkler, Thomas W.; Abecasis, Gonçalo R.; Aben, Katja K.; Alam, Dewan S.; Alharthi, Sameer E.; Allison, Matthew; Amouyel, Philippe; Asselbergs, Folkert W.; Auer, Paul L.; Balkau, Beverley; Bang, Lia E.; Barroso, Inês; Bastarache, Lisa; Benn, Marianne; Bergmann, Sven; Bielak, Lawrence F.; Blüher, Matthias; Boehnke, Michael; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A.; Bork-Jensen, Jette; Bots, Michiel L.; Bottinger, Erwin P.; Bowden, Donald W.; Brandslund, Ivan; Breen, Gerome; Brilliant, Murray H.; Broer, Linda; Brumat, Marco; Burt, Amber A.; Butterworth, Adam S.; Campbell, Peter T.; Cappellani, Stefania; Carey, David J.; Catamo, Eulalia; Caulfield, Mark J.; Chambers, John C.; Chasman, Daniel I.; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y.; Cocca, Massimiliano; Collins, Francis S.; Cook, James P.; Corley, Janie; Corominas Galbany, Jordi; Cox, Amanda J.; Crosslin, David S.; Cuellar-Partida, Gabriel; D'Eustacchio, Angela; Danesh, John; Davies, Gail; Bakker, Paul I.W.; Groot, Mark C.H.; Mutsert, Renée; Deary, Ian J.; Dedoussis, George; Demerath, Ellen W.; Heijer, Martin; Hollander, Anneke I.; Ruijter, Hester M.; Dennis, Joe G.; Denny, Josh C.; Angelantonio, Emanuele; Drenos, Fotios; Du, Mengmeng; Dubé, Marie-Pierre; Dunning, Alison M.; Easton, Douglas F.; Edwards, Todd L.; Ellinghaus, David; Ellinor, Patrick T.; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Farooqi, I. Sadaf; Faul, Jessica D.; Fauser, Sascha; Feng, Shuang; Ferrannini, Ele; Ferrieres, Jean; Florez, Jose C.; Ford, Ian; Fornage, Myriam; Franco, Oscar H.; Franke, Andre; Franks, Paul W.; Friedrich, Nele; Frikke-Schmidt, Ruth; Galesloot, Tessel E.; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Gibson, Jane; Giedraitis, Vilmantas; Gjesing, Anette P.; Gordon-Larsen, Penny; Gorski, Mathias; Grabe, Hans-Jörgen; Grant, Struan F.A.; Grarup, Niels; Griffiths, Helen L.; Grove, Megan L.; Gudnason, Vilmundur; Gustafsson, Stefan; Haessler, Jeff; Hakonarson, Hakon; Hammerschlag, Anke R.; Hansen, Torben; Harris, Kathleen Mullan; Harris, Tamara B.; Hattersley, Andrew T.; Have, Christian T.; Hayward, Caroline; He, Liang; Heard-Costa, Nancy L.; Heath, Andrew C.; Heid, Iris M.; Helgeland, Øyvind; Hernesniemi, Jussi; Hewitt, Alex W.; Holmen, Oddgeir Lingaas; Hovingh, G. Kees; Howson, Joanna M.M.; Hu, Yao; Huang, Paul L.; Huffman, Jennifer E.; Ikram, M. Arfan; Ingelsson, Erik; Jackson, Anne U.; Jansson, Jan-Håkan; Jarvik, Gail P.; Jensen, Gorm B.; Jia, Yucheng; Johansson, Stefan; Jørgensen, Marit E.; Jørgensen, Torben; Jukema, J. 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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. 14: 466-472. doi: 10.1111/j.1399-5448.2012.00925.x
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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. 23: 9-22.
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. 56: 1512-1519. doi: 10.1007/s00125-013-2916-y
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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. 56: S152-S152.
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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). 13: 29-32. doi: 10.1016/j.pan.2012.12.059
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. 8. 11 sider. doi: 10.1371/journal.pone.0060229
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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. 288: 5353-5356. doi: 10.1074/jbc.C112.428979
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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. 42: 1078-1084. doi: 10.1097/MPA.0b013e3182920e9c
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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. 54: 13-13.
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. 14: 422-428. doi: 10.1111/j.1399-5448.2012.00922.x

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. 13: 431-436. doi: 10.1038/gene.2012.11
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Haldorsen, Ingfrid S.; Ræder, Helge; Vesterhus, Mette; Molven, Anders; Njølstad, Pål Rasmus. 2012. The role of pancreatic imaging in monogenic diabetes mellitus. Nature Reviews Endocrinology. 8: 148-159. doi: 10.1038/nrendo.2011.197
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Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2012. Skreddersydd medisin eller narsissomikk? Tidsskrift for Den norske legeforening. 132: 1844-1845. Publisert 2012-09-04. doi: 10.4045/tidsskr.12.0582
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. 13: 155-162. doi: 10.1111/j.1399-5448.2011.00776.x

Haldorsen, Ingfrid S.; Njølstad, Pål Rasmus. 2011. Bildediagnostikk av pankreas ved monogen diabetes. Diabetesforum. 4. 20-22.
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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. 60: 1637-1644. doi: 10.2337/db10-1340
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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. 31: 567-570. doi: 10.1038/jp.2011.4
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. 54: 2801-2810. doi: 10.1007/s00125-011-2261-y
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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. 59: 266-271. doi: 10.2337/db09-0555
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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. 69: 1471-1474. doi: 10.1136/ard.2009.114934
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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. 46: S26-S26.
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. 10: 181-187. doi: 10.1038/gene.2008.100
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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. 10: 9-14.
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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. 10: 120-124. doi: 10.1038/gene.2008.85
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. 129: 2358-2361.
Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif. 2009. The Genotypes and Phenotypes of Diabetes. Journal of the Pancreas. 10.
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. 75: 440-448. doi: 10.1111/j.1399-0004.2009.01152.x
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. Publisert 2009-09-01. doi: 10.1136/ard.2009.114934
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. 10: 234-239. doi: 10.1111/j.1399-5448.2008.00495.x

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. 51: 589-596. doi: 10.1007/s00125-008-0932-0
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. 25: 463-468. doi: 10.1111/j.1464-5491.2008.02399.x
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. 70: 41-41.
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. 159: 27-34. doi: 10.1530/EJE-08-0203
Eide, Stig Åge; Ræder, H; Ræder, Helge; Johansson, Stefan; Midthjell, Kristian; Søvik, O; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine. 25: 775-781. doi: 10.1111/j.1464-5491.2008.02459.x
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. 51: S123-S123. doi: 10.1007/s00125-008-1117-6
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. 25: 782-787. doi: 10.1111/j.1464-5491.2008.02460.x
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. 57: 1745-1752. doi: 10.2337/db07-1742
Hertel, Jens Kristoffer; Johansson, Stefan; Ræder, H; 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. 51: 971-977. doi: 10.1007/s00125-008-0982-3
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. 51: S129-S129. doi: 10.1007/s00125-008-1117-6
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. doi: 10.1038/gene.2008.85
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. 275: 2467-2481. doi: 10.1111/j.1742-4658.2008.06391.x
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. 57: 1131-1135.
Molven, Anders; Ringdal, Monika; Nordbo, AM; Nordbø, Anita-Merete; Raeeder, H; Ræder, Helge; Stoy, J; Støy, Julie; Lipkind, Gregory M.; Steiner, Donald F.; Philipson, Louis H.; Bergmann, Ines; Aarskog, Dagfinn; Undlien, Dag Erik; Joner, Geir; Joner, Geir; Søvik, Oddmund; Sovik, O; Bell, Graeme I.; Njølstad, Pål Rasmus. 2008. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 57: 1131-1135. doi: 10.2337/db07-1467
Njølstad, Pål Rasmus; Johansson, Stefan. 2008. EASD: genetikk of diabetes type 2. Diabetesforum. 4: 4-5.
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. 51: S116-S116. doi: 10.1007/s00125-008-1117-6
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. 9: 442-449. doi: 10.1111/j.1399-5448.2008.00399.x
Sandal, Tone; Søvik, Oddmund; Njølstad, Pål Rasmus; Molven, Anders. 2008. Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter. Pediatrisk Endokrinologi. 28: 37-43.
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. 51: S154-S154. doi: 10.1007/s00125-008-1117-6
Søvik, Oddmund; Juliusson, Petur; Hansen, Eirik V.; Njølstad, Pål Rasmus. 2008. Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter. Pediatrisk Endokrinologi. 22: 56-63.
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. doi: 10.1007/s10545-008-0866-1
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. 51: S123-S124. doi: 10.1007/s00125-008-1117-6
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. 93: 3505-3509. doi: 10.1210/jc.2008-0340
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. 31: 1738-1740. doi: 10.2337/dc07-2217
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. 31: 306-310. doi: 10.2337/dc07-1002
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. 70: 202-203.

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. 30: 884-889. doi: 10.2337/dc06-1568
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. 282: 22757-22764. doi: 10.1074/jbc.M700517200
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. 56: 3112-3117. doi: 10.2337/db07-0513
Laborie, Lene Bjerke; Søvik, Oddmund; Njølstad, Pål Rasmus. 2007. Diagnose og behandling av monogene former for nyfødt- og spebarnsdiabetes. Pediatrisk Endokrinologi. 21: 23-28.
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. 56: 444-449. doi: 10.2337/db06-0859
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. 44. 6 sider. doi: 10.1136/jmg.2007.049361
Søvik, Oddmund; Tansek, Mojca Zerjav; Sagen, Jørn V.; Njølstad, Pål Rasmus. 2007. Management of neonatal and infancy-onset diabetes mellitus. Endocrine Development. 11: 94-105.
Vesterhus, Mette; Johansson, Stefan; Ræder, Helge; Molven, Anders; Njølstad, Pål Rasmus. 2007. Pancreatic exocrine deficiency is common in MODY 3. Diabetologia. 50: S123-S123. doi: 10.1007/s00125-007-0809-7
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. 30: 2245-2250. doi: 10.2337/dc07-0475

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. 27: 140-144. doi: 10.1016/j.jaut.2006.06.007
Hathout, Eba; Mace, John; Bell, Graeme I.; Njølstad, Pål Rasmus. 2006. Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care. 29: 1458-1458.
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. 7: 352-360. doi: 10.1111/j.1399-5448.2006.00217.x
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. 120: 262-269. doi: 10.1007/s00439-006-0205-2
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. 355: 467-477.
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. 55: 1731-1737. doi: 10.2337/db05-1420
Raeder, Helge; Ræder, Helge; Bjorkhaug, Lise; Bjørkhaug, Lise; Johansson, Stefan; Mangseth, Kjersti; Sagen, Jørn V.; Hunting, Anne; Følling, Ivar; Johansen, Odd; Bjørgaas, Marit; Paus, Povel N.; Søvik, Oddmund; 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. 55: 1899-1903. doi: 10.2337/db05-1677
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. 38: 54-62. doi: 10.1038/ng1708
Ræder, Helge; Njølstad, Pål Rasmus. 2006. Ny type diabetes. Diabetesforum. 1. 20-21.
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. 55: 1713-1722.
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. 55: 1713-1722. doi: 10.2337/db05-1513

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. 125: 2968-72.
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. 24: 661-669.
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. 125: 2968-2972.
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. 22: 1012-1015.
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. 22: 406-409.
Salvesen, Helga; Njølstad, Pål Rasmus. 2005. Barn ingen hindring. Bladet forskning. 03. 26-26.
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. 22: 994-998.
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. 88: 285A-285A.
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. 24: 2318-2330.

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. 350: 1838-1849.
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. 53: 221-227.
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. 47: A137-A138.
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. 53: 2713-2718.
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. 34: 201-206.

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. 88: 920-931.
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. 88: 920-931.
Njølstad, PR; Molven, Anders. 2003. Forskere diskuterte arv og diabetes. Diabetes for helsepersonell. 4. 12-14.
Njølstad, Pål Rasmus. 2003. Permanent neonatal diabetes mellitus due to glucokinase deficiency - an inborn error of the glucose-insulin signalling pathway. Diabetes. 52: 2854-2860.
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. 17: 369-373.
Njølstad, Pål Rasmus; Bjørkhaug, L. 2003. Klinisk molekylærmedisin (5): Eksempler på funksjonelle analyser. Pediatrisk Endokrinologi. 16: 64-69.
Njølstad, Pål Rasmus; Molven, Anders. 2003. Forskere diskuterte arv og diabetes. Diabetes for helsepersonell. 4: 12-14.

Rapporter/avhandlinger

Njølstad, Pål Rasmus; Molven, Anders; Groop, Leif. 2009. Diabetes Genetics. A Seventh Sense for the Successful Sequel of ‘Come Together’. Journal of the Pancreas. 10: 4. Journal of the Pancreas. -466471 sider.

Bokkapitler

Molven, Anders; Helgeland, Geir; Sandal, Tone; Njølstad, Pål Rasmus. 2012. The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency. Chapt 13, sider 137-145. I:
- Stanley, C.A.; De Léon, D.D. 2012. Frontiers in Diabetes, Vol 21. Monogenic Hyperinsulinemic Hypoglycemia Disorders. S. Karger. 192 sider. ISBN: 978-3-8055-9943-6.

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. Kapittel, sider 1096-1102. I:
- Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony. 2008. Inborn Errors of Development. Oxford University Press. 1664 sider. ISBN: 9780195306910.

Njølstad, Pål Rasmus; Molven, Anders; Søvik, Oddmund. 2005. Diagnosis and mangement of MODY in a pediatric setting. Chapter 5, sider 84-93. I:
- Chiarelli, Francesco; Dahl-Jørgensen, Knut; Kiess, Wieland. 2005. Diabetes in Childhood and Adolescence. S. Karger. 400 sider. ISBN: 3-8055-7766-4.

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. 16, sider 92-109. I:
- Matschinsky, FM; Magnusson, M. 2004. Glucokinase and Glycemic Disease: From basics to novel therapeutics. 400 sider.
Njølstad, Pål Rasmus; Søvik, Oddmund. 2004. Permanent Neonatal Diabetes Mellitus due to Glucokinase Deficiency. 16, sider 65-74. I:
- Matschinsky, FM; Magnusson, M. 2004. Glucokinase and Glycemic Disease: From basics to novel therapeutics. 400 sider.

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