关注
Pål Rasmus Njølstad
Pål Rasmus Njølstad
Professor
在 uib.no 的电子邮件经过验证
标题
引用次数
引用次数
年份
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6. 2 and permanent neonatal diabetes
AL Gloyn, ER Pearson, JF Antcliff, P Proks, GJ Bruining, AS Slingerland, ...
New England Journal of Medicine 350 (18), 1838-1849, 2004
14862004
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12892016
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations
ER Pearson, I Flechtner, PR Njølstad, MT Malecki, SE Flanagan, B Larkin, ...
New England Journal of Medicine 355 (5), 467-477, 2006
12102006
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children
TO Kilpeläinen, L Qi, S Brage, SJ Sharp, E Sonestedt, E Demerath, ...
PLoS medicine 8 (11), e1001116, 2011
7442011
Rare and low-frequency coding variants alter human adult height
E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ...
Nature 542 (7640), 186-190, 2017
6762017
Neonatal diabetes mellitus due to complete glucokinase deficiency
PR Njølstad, O Søvik, A Cuesta-Muñoz, L Bjørkhaug, O Massa, F Barbetti, ...
New England Journal of Medicine 344 (21), 1588-1592, 2001
5792001
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
J Flannick, G Thorleifsson, NL Beer, SBR Jacobs, N Grarup, NP Burtt, ...
Nature genetics 46 (4), 357-363, 2014
5552014
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
NM Warrington, RN Beaumont, M Horikoshi, FR Day, Ø Helgeland, ...
Nature genetics 51 (5), 804-814, 2019
5012019
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction
H Ræder, S Johansson, PI Holm, IS Haldorsen, E Mas, V Sbarra, ...
Nature genetics 38 (1), 54-62, 2006
4612006
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β
TH Lindner, PR Njølstad, Y Horikawa, L Bostad, GI Bell, O Søvik
Human molecular genetics 8 (11), 2001-2008, 1999
4581999
Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy
JV Sagen, H Ræder, E Hathout, N Shehadeh, K Gudmundsson, H Bævre, ...
Diabetes 53 (10), 2713-2718, 2004
4572004
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
AT Hattersley, SAW Greeley, M Polak, O Rubio-Cabezas, PR Njølstad, ...
Wiley for International Society for Pediatric and Adolescent Diabetes (ISPAD), 2018
3772018
The genetic abnormality in the beta cell determines the response to an oral glucose load
A Stride, M Vaxillaire, T Tuomi, F Barbetti, PR Njølstad, T Hansen, A Costa, ...
Diabetologia 45, 427-435, 2002
3692002
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
V Turcot, Y Lu, HM Highland, C Schurmann, AE Justice, RS Fine, ...
Nature genetics 50 (1), 26-41, 2018
3572018
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population
K Estrada, I Aukrust, L Bjørkhaug, NP Burtt, JM Mercader, H García-Ortiz, ...
Jama 311 (22), 2305-2314, 2014
2832014
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway
PR Njølstad, JV Sagen, L Bjørkhaug, S Odili, N Shehadeh, D Bakry, ...
Diabetes 52 (11), 2854-2860, 2003
2722003
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
A Molven, M Ringdal, AM Nordbø, H Ræder, J Støy, GM Lipkind, ...
Diabetes 57 (4), 1131-1135, 2008
2682008
Continuing stability of center differences in pediatric diabetes care: do advances in diabetes treatment improve outcome? The Hvidoere Study Group on Childhood Diabetes
CE De Beaufort, PGF Swift, CT Skinner, HJ Aanstoot, J Aman, F Cameron, ...
Diabetes care 30 (9), 2245-2250, 2007
2602007
Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects
LJ Howe, MG Nivard, TT Morris, AF Hansen, H Rasheed, Y Cho, ...
Nature genetics 54 (5), 581-592, 2022
2582022
The diagnosis and management of monogenic diabetes in children and adolescents.
O Rubio‐Cabezas, AT Hattersley, PR Njølstad, W Mlynarski, S Ellard, ...
Pediatric diabetes 15, 2014
2502014
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