Works by Njølstad, Pål Rasmus

Results: 27

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.

Published in:

2010

By:

Laborie, Lene Bjerke;
Mackay, Deborah J. G.;
Temple, I. Karen;
Molven, Anders;
Søvik, Oddmund;
Njølstad, Pål Rasmus;
Søvik, Oddmund;
Njølstad, Pål Rasmus

Publication type:

journal article

Sonographic pancreas echogenicity in cystic fibrosis compared to exocrine pancreatic function and pancreas fat content at Dixon-MRI.

Published in:

PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201019

By:

Engjom, Trond;
Kavaliauskiene, Giedre;
Tjora, Erling;
Erchinger, Friedemann;
Wathle, Gaute;
Lærum, Birger Norderud;
Njølstad, Pål Rasmus;
Frøkjær, Jens Brøndum;
Gilja, Odd Helge;
Dimcevski, Georg;
Haldorsen, Ingfrid Salvesen

Publication type:

Article

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

Published in:

Nature Genetics, 2006, v. 38, n. 1, p. 54, doi. 10.1038/ng1708

By:

Ræder, Helge;
Johansson, Stefan;
Holm, Pål I;
Haldorsen, Ingfrid S;
Mas, Eric;
Sbarra, Véronique;
Nermoen, Ingrid;
Eide, Stig Å;
Grevle, Louise;
Bjørkhaug, Lise;
Sagen, Jørn V;
Aksnes, Lage;
Søvik, Oddmund;
Lombardo, Dominique;
Molven, Anders;
Njølstad, Pål Rasmus

Publication type:

Article

Dagfinn Aarskog.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2014, n. 16, p. 1602

By:

Skadberg, Britt;
Markestad, Trond;
Reigstad, Hallvard;
Bjerknes, Robert;
Greve, Gottfried;
Njølstad, Pål Rasmus

Publication type:

Article

Assessing the Causal Relationship of Maternal Height on Birth Size and Gestational Age at Birth: A Mendelian Randomization Analysis.

Published in:

PLoS Medicine, 2015, v. 12, n. 8, p. 1, doi. 10.1371/journal.pmed.1001865

By:

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

Publication type:

Article

Early manifestations of genetic risk for neurodevelopmental disorders.

Published in:

Journal of Child Psychology & Psychiatry, 2022, v. 63, n. 7, p. 810, doi. 10.1111/jcpp.13528

By:

Askeland, Ragna Bugge;
Hannigan, Laurie J.;
Ask, Helga;
Ayorech, Ziada;
Tesli, Martin;
Corfield, Elizabeth;
Magnus, Per;
Njølstad, Pål Rasmus;
Andreassen, Ole A.;
Davey Smith, George;
Reichborn‐Kjennerud, Ted;
Havdahl, Alexandra

Publication type:

Article

Intrauterine Growth and Offspring Neurodevelopmental Traits: A Mendelian Randomization Analysis of the Norwegian Mother, Father and Child Cohort Study (MoBa).

Published in:

JAMA Psychiatry, 2024, v. 81, n. 2, p. 144, doi. 10.1001/jamapsychiatry.2023.3872

By:

D'Urso, Shannon;
Moen, Gunn-Helen;
Hwang, Liang-Dar;
Hannigan, Laurie J.;
Corfield, Elizabeth C.;
Ask, Helga;
Johannson, Stefan;
Njølstad, Pål Rasmus;
Beaumont, Robin N.;
Freathy, Rachel M.;
Evans, David M.;
Havdahl, Alexandra

Publication type:

Article

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.

Published in:

Pediatric Diabetes, 2013, v. 14, n. 6, p. 466, doi. 10.1111/j.1399-5448.2012.00925.x

By:

Elbarbary, Nancy S;
Tjora, Erling;
Molnes, Janne;
Lie, Benedicte A;
Habib, Mohammad A;
Salem, Mona A;
Njølstad, Pål Rasmus

Publication type:

Article

Subtype-Specific Surface Proteins on Adipose Tissue Macrophages and Their Association to Obesity-Induced Insulin Resistance.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.856530

By:

Strand, Kristina;
Stiglund, Natalie;
Haugstøyl, Martha Eimstad;
Kamyab, Zahra;
Langhelle, Victoria;
Dyer, Laurence;
Busch, Christian;
Cornillet, Martin;
Hjellestad, Iren Drange;
Nielsen, Hans Jørgen;
Njølstad, Pål Rasmus;
Mellgren, Gunnar;
Björkström, Niklas K.;
Fernø, Johan

Publication type:

Article

Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders.

Published in:

Psychological Medicine, 2023, v. 53, n. 5, p. 1750, doi. 10.1017/S0033291721003330

By:

Hannigan, Laurie J.;
Askeland, Ragna Bugge;
Ask, Helga;
Tesli, Martin;
Corfield, Elizabeth;
Ayorech, Ziada;
Magnus, Per;
Njølstad, Pål Rasmus;
Øyen, Anne-Siri;
Stoltenberg, Camilla;
Andreassen, Ole A.;
Ronald, Angelica;
Smith, George Davey;
Reichborn-Kjennerud, Ted;
Havdahl, Alexandra

Publication type:

Article

Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes.

Published in:

PLoS ONE, 2024, v. 19, n. 4, p. 1, doi. 10.1371/journal.pone.0300350

By:

Kuznetsova, Ksenia G.;
Vašíček, Jakub;
Skiadopoulou, Dafni;
Molnes, Janne;
Udler, Miriam;
Johansson, Stefan;
Njølstad, Pål Rasmus;
Manning, Alisa;
Vaudel, Marc

Publication type:

Article

Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 2, p. 554, doi. 10.1210/clinem/dgae459

By:

Velde, Christoffer Drabløs;
Molnes, Janne;
Berland, Siren;
Njølstad, Pål Rasmus;
Molven, Anders

Publication type:

Article

The Composite Autonomic Symptom Score 31 Questionnaire: A Sensitive Test to Detect Risk for Autonomic Neuropathy.

Published in:

Journal of Diabetes Research, 2023, p. 1, doi. 10.1155/2023/4441115

By:

Meling, Sondre;
Tjora, Erling;
Eichele, Heike;
Ejskjaer, Niels;
Carlsen, Siri;
Njølstad, Pål Rasmus;
Brock, Christina;
Søfteland, Eirik

Publication type:

Article

Functional Dissection of the HNF-1alpha Transcription Factor: A Study on Nuclear Localization and Transcriptional Activation.

Published in:

DNA & Cell Biology, 2005, v. 24, n. 11, p. 661, doi. 10.1089/dna.2005.24.661

By:

Bjørkhaug, Lise;
Bratland, André;
Njølstad, Pål Rasmus;
Molven, Anders

Publication type:

Article

Length of Variable Numbers of Tandem Repeats in the Carboxyl Ester Lipase (CEL) Gene May Confer Susceptibility to Alcoholic Liver Cirrhosis but Not Alcoholic Chronic Pancreatitis.

Published in:

PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165567

By:

Fjeld, Karianne;
Beer, Sebastian;
Johnstone, Marianne;
Zimmer, Constantin;
Mössner, Joachim;
Ruffert, Claudia;
Krehan, Mario;
Zapf, Christian;
Njølstad, Pål Rasmus;
Johansson, Stefan;
Bugert, Peter;
Miyajima, Fabio;
Liloglou, Triantafillos;
Brown, Laura J.;
Winn, Simon A.;
Davies, Kelly;
Latawiec, Diane;
Gunson, Bridget K.;
Criddle, David N.;
Pirmohamed, Munir

Publication type:

Article

Genetic Liability for Schizophrenia and Childhood Psychopathology in the General Population.

Published in:

Schizophrenia Bulletin, 2021, v. 47, n. 4, p. 1179, doi. 10.1093/schbul/sbaa193

By:

Hannigan, Laurie J;
Askeland, Ragna Bugge;
Ask, Helga;
Tesli, Martin;
Corfield, Elizabeth;
Ayorech, Ziada;
Helgeland, Øyvind;
Magnus, Per;
Njølstad, Pål Rasmus;
Øyen, Anne-Siri;
Stoltenberg, Camilla;
Andreassen, Ole A;
Smith, George Davey;
Reichborn-Kjennerud, Ted;
Havdahl, Alexandra

Publication type:

Article

Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity.

Published in:

FEBS Journal, 2011, v. 278, n. 13, p. 2372, doi. 10.1111/j.1742-4658.2011.08160.x

By:

Molnes, Janne;
Teigen, Knut;
Aukrust, Ingvild;
Bjørkhaug, Lise;
Søvik, Oddmund;
Flatmark, Torgeir;
Njølstad, Pål Rasmus

Publication type:

Article

Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12308-0

By:

Helgeland, Øyvind;
Vaudel, Marc;
Juliusson, Petur B.;
Lingaas Holmen, Oddgeir;
Juodakis, Julius;
Bacelis, Jonas;
Jacobsson, Bo;
Lindekleiv, Haakon;
Hveem, Kristian;
Lie, Rolv Terje;
Knudsen, Gun Peggy;
Stoltenberg, Camilla;
Magnus, Per;
Sagen, Jørn V.;
Molven, Anders;
Johansson, Stefan;
Njølstad, Pål Rasmus

Publication type:

Article

1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine.

Published in:

Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1638-P

By:

JOHANSSON, BENTE B.;
PAVITHRAM, AISHWARYA;
ZHANG, HAICHEN;
MALONEY, KRISTIN A.;
RINGDAL, MONIKA;
KACI, ALBA;
SAGEN, JORN V.;
KLEINBERGER, JEFFREY;
JENG, LINDA;
NJØLSTAD, PÅL RASMUS;
POLLIN, TONI I.;
MOLNES, JANNE

Publication type:

Article

246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY.

Published in:

Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-246-LB

By:

SOLHEIM, MARIE H.;
KHAKIANI, MOJDEH NASROLLAHZADEH;
MOLNES, JANNE;
AUKRUST, INGVILD;
NJøLSTAD, PåL RASMUS;
JOHANSSON, STEFAN

Publication type:

Article

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Published in:

2017

By:

Najmi, Laeya Abdoli;
Aukrust, Ingvild;
Flannick, Jason;
Molnes, Janne;
Burtt, Noel;
Molven, Anders;
Groop, Leif;
Altshuler, David;
Johansson, Stefan;
Bjørkhaug, Lise;
Njølstad, Pål Rasmus

Publication type:

journal article

Studies in 3,523 Norwegians and Meta-Analysis in 11,571 Subjects Indicate That Variants in the Hepatocyte Nuclear Factor 4α (HNF4A) P2 Region Are Associated With Type 2 Diabetes in Scandinavians.

Published in:

Diabetes, 2007, v. 56, n. 12, p. 3112, doi. 10.2337/db07-0513

By:

Johansson, Stefan;
Ræder, Helge;
Eide, Stig Å;
Midthjell, Kristian;
Hveem, Kristian;
Søvik, Oddmund;
Molven, Anders;
Njølstad, Pål Rasmus

Publication type:

Article

Extending protein interaction networks using proteoforms and small molecules.

Published in:

Bioinformatics, 2023, v. 39, n. 10, p. 1, doi. 10.1093/bioinformatics/btad598

By:

Sánchez, Luis Francisco Hernández;
Burger, Bram;
Campos, Rodrigo Alexander Castro;
Johansson, Stefan;
Njølstad, Pål Rasmus;
Barsnes, Harald;
Vaudel, Marc

Publication type:

Article

PathwayMatcher: proteoform-centric network construction enables fine-granularity multiomics pathway mapping.

Published in:

GigaScience, 2019, v. 8, n. 8, p. N.PAG, doi. 10.1093/gigascience/giz088

By:

Sánchez, Luis Francisco Hernández;
Burger, Bram;
Horro, Carlos;
Fabregat, Antonio;
Johansson, Stefan;
Njølstad, Pål Rasmus;
Barsnes, Harald;
Hermjakob, Henning;
Vaudel, Marc

Publication type:

Article

Oddmund Søvik.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2024, v. 144, n. 9, p. 755, doi. 10.4045/tidsskr.24.0335

By:

NJØLSTAD, PÅL RASMUS;
MOLVEN, ANDERS

Publication type:

Article

Medfødt hyperinsulinisme.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2023, v. 143, n. 18, p. 1592

By:

VELDE, CHRISTOFFER DRABLØS;
REIGSTAD, HALLVARD;
TJORA, ERLING;
GUTHE, HANS JØRGEN TIMM;
HANSEN, EIRIK VANGSØY;
MOLVEN, ANDERS;
NJØLSTAD, PÅL RASMUS

Publication type:

Article

Medfødt hyperinsulinisme.

Published in:

Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2023, v. 40, n. 3, p. 1592

By:

VELDE, CHRISTOFFER DRABLØS;
TJORA, ERLING;
MOLVEN, ANDERS;
REIGSTAD, HALLVARD;
GUTHE, HANS JØRGEN TIMM;
NJØLSTAD, PÅL RASMUS;
HANSEN, EIRIK VANGSØY

Publication type:

Article