Pediatri (NFR-evaluering)
- Prosjektnummer
- 911143
- Ansvarlig person
- Pål Rasmus Njølstad
- Institusjon
- Helse Bergen/ Universitetet i Bergen
- Prosjektkategori
- Strategiske midler - belønning NFR
- Helsekategori
- Pediatrics
- Forskningsaktivitet
- Translasjonsforskning
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.
Genes Immun 2009 Mar;10(2):120-4. Epub 2008 okt 23
PMID: 18946481
Sweets, snacking habits, and skipping meals in children and adolescents on intensive insulin treatment.
Pediatr Diabetes 2008 Aug;9(4 Pt 2):393-400.
PMID: 18774998
Lack of pancreatic body and tail in HNF1B mutation carriers.
Diabet Med 2008 Jul;25(7):782-7.
PMID: 18644064
Reduced pancreatic volume in hepatocyte nuclear factor 1A-maturity-onset diabetes of the young.
J Clin Endocrinol Metab 2008 Sep;93(9):3505-9. Epub 2008 jul 1
PMID: 18593771
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.
Diabetes Care 2008 Sep;31(9):1738-40. Epub 2008 jun 10
PMID: 18544793
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).
Diabet Med 2008 Jul;25(7):775-81.
PMID: 18513305
Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome.
J Inherit Metab Dis 2008 May. Epub 2008 mai 20
PMID: 18500571
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
Eur J Endocrinol 2008 Jul;159(1):27-34. Epub 2008 mai 1
PMID: 18450771
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 2008 Jun;51(6):971-7. Epub 2008 apr 24
PMID: 18437351
Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
Pediatr Diabetes 2008 Oct;9(5):442-9. Epub 2008 apr 9
PMID: 18399931
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.
FEBS J 2008 May;275(10):2467-81. Epub 2008 apr 7
PMID: 18397317
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development.
Diabetes 2008 Jun;57(6):1745-52. Epub 2008 mar 20
PMID: 18356407
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Diabetologia 2008 Apr;51(4):546-53. Epub 2008 feb 23
PMID: 18297260
Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?
Diabet Med 2008 Apr;25(4):463-8. Epub 2008 feb 19
PMID: 18294223
Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes.
Diabetologia 2008 Apr;51(4):589-96. Epub 2008 feb 22
PMID: 18292987
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Diabetes 2008 Apr;57(4):1131-5. Epub 2008 jan 11
PMID: 18192540
Pancreatic exocrine dysfunction in maturity-onset diabetes of the young type 3.
Diabetes Care 2008 Feb;31(2):306-10. Epub 2007 nov 5
PMID: 17989309
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 2007 Apr;30(4):884-9.
PMID: 17392550
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 2007 Sep;30(9):2245-50. Epub 2007 mai 31
PMID: 17540955
Management of neonatal and infancy-onset diabetes mellitus.
Endocr Dev 2007;11():94-105.
PMID: 17986830
Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
Diabetes 2006 Jun;55(6):1731-7.
PMID: 16731836
Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes.
Diabetes Care 2006 Jun;29(6):1458.
PMID: 16732049
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.
Hum Genet 2006 Sep;120(2):262-9. Epub 2006 jul 1
PMID: 16816970
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
N Engl J Med 2006 Aug;355(5):467-77.
PMID: 16885550
Increased levels of urinary leukotriene E4 in children with severe atopic eczema/dermatitis syndrome.
Allergy 2005 Jan;60(1):86-9.
PMID: 15575936
Assessment of lung volumes in children and adolescents: comparison of two plethysmographic techniques.
Clin Physiol Funct Imaging 2005 Jan;25(1):62-8.
PMID: 15659083
Angiotensin I converting enzyme genotype affects ventricular remodelling in children with aortic coarctation.
Heart 2005 Mar;91(3):367-8.
PMID: 15710723
[An interdisciplinary educational program about pulmonary obstructive disease in family practice]
Tidsskr Nor Laegeforen 2005 Feb;125(4):465.
PMID: 15742027
Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers.
Diabet Med 2005 Apr;22(4):406-9.
PMID: 15787664
[Referral practice and clinical assessment of heart murmurs in children]
Tidsskr Nor Laegeforen 2005 Apr;125(8):996-8.
PMID: 15852069
[Evaluation of cardiac murmurs in children]
Tidsskr Nor Laegeforen 2005 Apr;125(8):1000-3.
PMID: 15852070
Creation and enlargement of atrial defects in congenital heart disease.
Pediatr Cardiol 2005 Mar-Apr;26(2):162-8.
PMID: 15868326
Seizure-related factors and non-verbal intelligence in children with epilepsy. A population-based study from Western Norway.
Seizure 2005 Jun;14(4):223-31.
PMID: 15893478
Daily duration of vitamin D synthesis in human skin with relation to latitude, total ozone, altitude, ground cover, aerosols and cloud thickness.
Photochem Photobiol 2005 Nov-Dec;81(6):1287-90.
PMID: 16354110
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
EMBO J 2005 Jul;24(13):2318-30. Epub 2005 jun 16
PMID: 15962003
Teacher ratings of mental health among school children in Kinshasa, Democratic Republic of Congo.
Eur Child Adolesc Psychiatry 2005 Jul;14(4):208-15.
PMID: 15981132
Radiofrequency perforation and conventional needle percutaneous transseptal left heart access: pathological features.
Catheter Cardiovasc Interv 2005 Aug;65(4):556-63.
PMID: 16010688
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).
Diabet Med 2005 Aug;22(8):994-8.
PMID: 16026363
Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus.
Diabet Med 2005 Aug;22(8):1012-5.
PMID: 16026366
[How to identify adrenal cortex suppression in children treated with inhalation steroids?]
Tidsskr Nor Laegeforen 2005 Aug;125(15):2033.
PMID: 16114125
Characteristics of asthma and airway hyper-responsiveness after premature birth.
Pediatr Allergy Immunol 2005 Sep;16(6):487-94.
PMID: 16176395
Cognition in African children with attention-deficit hyperactivity disorder.
Pediatr Neurol 2005 Nov;33(5):357-64.
PMID: 16243224
Attention deficit and hyperactivity disorder among school children in Kinshasa, Democratic Republic of Congo.
Afr Health Sci 2005 Sep;5(3):172-81.
PMID: 16245986
Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.
DNA Cell Biol 2005 Nov;24(11):661-9.
PMID: 16274290
[Fluid management and the risk of cerebral oedema in children with diabetic ketoacidosis]
Tidsskr Nor Laegeforen 2005 Nov;125(21):2932-5.
PMID: 16276374
[Molecular diagnostics in endocrine diseases]
Tidsskr Nor Laegeforen 2005 Nov;125(21):2959-63.
PMID: 16276381
[Molecular diagnostics in diabetes mellitus]
Tidsskr Nor Laegeforen 2005 Nov;125(21):2968-72.
PMID: 16276383
A non-handicapped cohort of low-birthweight children: growth and general health status at 11 years of age.
Acta Paediatr 2005 Sep;94(9):1203-7.
PMID: 16278985
Shunt revisions in children--can they be avoided? Experiences from a population-based study.
Pediatr Neurosurg 2005 Nov-Dec;41(6):300-4.
PMID: 16293949
[Do patients with ventricular septal defect need endocarditis prophylaxis?]
Tidsskr Nor Laegeforen 2005 Dec;125(23):3256-8.
PMID: 16327848
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Diabetes 2004 Jan;53(1):221-7.
PMID: 14693719
Effect of the cytoskeletal fixation agent phalloidin on transcapillary albumin transport and interstitial fluid pressure following subdermal prostaglandin E1 administration in the rat.
Acta Physiol Scand 2004 Feb;180(2):125-32.
PMID: 14738471
Hematological parameters and cobalamin status in infants born to smoking mothers.
Biol Neonate 2004;85(4):249-55. Epub 2004 jan 21
PMID: 14739552
Native right ventricular outflow stent implantation in patients with unsalvageable extracardiac conduits.
Catheter Cardiovasc Interv 2004 Feb;61(2):256-8.
PMID: 14755823
Aspects of inattention in low birth weight children.
Pediatr Neurol 2004 Feb;30(2):92-8.
PMID: 14984899
Atopic disorders and risk of childhood-onset type 1 diabetes in individuals.
Clin Exp Allergy 2004 Feb;34(2):201-6.
PMID: 14987298
Vitamin D status of middle-aged women at 65-71 degrees N in relation to dietary intake and exposure to ultraviolet radiation.
Public Health Nutr 2004 Apr;7(2):327-35.
PMID: 15003141
Effects of the taxanes paclitaxel and docetaxel on edema formation and interstitial fluid pressure.
Am J Physiol Heart Circ Physiol 2004 Aug;287(2):H963-8. Epub 2004 apr 1
PMID: 15059777
Bladed balloon angioplasty for peripheral pulmonary artery stenosis.
Catheter Cardiovasc Interv 2004 May;62(1):71-7.
PMID: 15103608
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
N Engl J Med 2004 Apr;350(18):1838-49.
PMID: 15115830
The coping styles of adolescents with type 1 diabetes are associated with degree of metabolic control.
Diabetes Care 2004 Jun;27(6):1313-7.
PMID: 15161781
The association between nutritional conditions during World War II and childhood anthropometric variables in the Nordic countries.
Ann Hum Biol 2004 May-Jun;31(3):342-55.
PMID: 15204349
Nationwide, prospective registration of type 1 diabetes in children aged <15 years in norway 1989-1998: no increase but significant regional variation in incidence.
Diabetes Care 2004 Jul;27(7):1618-22.
PMID: 15220237
Exercise capacity in young adults with hypertension and systolic blood pressure difference between right arm and leg after repair of coarctation of the aorta.
Eur J Appl Physiol 2004 Oct;93(1-2):116-23. Epub 2004 jul 28
PMID: 15549367
[Too narrow boot]
Tidsskr Nor Laegeforen 2004 Aug;124(15):1935-7.
PMID: 15318409
Vitamin D status in a rural population of northern Norway with high fish liver consumption.
Public Health Nutr 2004 Sep;7(6):783-9.
PMID: 15369617
Urinary 9alpha,11beta-prostaglandin F(2) in children with atopic eczema/dermatitis syndrome: an indicator of mast cell activation?
Acta Derm Venereol 2004;84(5):359-62.
PMID: 15370701
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Diabetes 2004 Oct;53(10):2713-8.
PMID: 15448106
Anti-neutrophil cytoplasmatic antibodies and lung disease in cystic fibrosis.
J Cyst Fibros 2004 Aug;3(3):179-83.
PMID: 15463905
[Paediatric neurology and habilitation in Norway]
Tidsskr Nor Laegeforen 2004 Oct;124(19):2486-7.
PMID: 15477886
Pulmonary outcome in adolescents of extreme preterm birth: a regional cohort study.
Acta Paediatr 2004 Oct;93(10):1294-300.
PMID: 15499947
[Unexpected and unexplained deaths among young patients with diabetes mellitus]
Tidsskr Nor Laegeforen 2004 Dec;124(23):3064-5.
PMID: 15586189
MODY5 due to mutations in TCF2 (HNF-1ß): The clinical spectrum with special reference to urogenital malformations.
In: Inborn Errors of Development (Epstein, Erickson and Wynshaw-Boris, eds), pp. 1096-1102. Oxford University Press, New York 2008. ISBN-13: 978-0-19-530691-0.
Utredning og behandling av medfødt hyperinsulinisme (1): Molekylære og genetiske aspekter.
Ped Endokrin. 2008; 22: 37-43.
EASD: genetikk og diabetes type 2.
Diabetesforum 2008; 4: 4-5.
Utredning og behandling av medfødt hyperinsulinisme (2): Diagnostiske og terapeutiske aspekter.
Ped Endokrin. 2008; 22:56-63.
Diagnose og behandling av monogene former for nyfødt- og spedbarnsdiabetes
Ped Endokrin. 2007; 21: 23-28.
MODY5 due to mutations in TCF2 (HNF-1ß). The clinical spectrum with special reference to urogenital malformations.
In: Inborn Errors of Development (Epstein, Erickson and Wynshaw-Boris, editors). Oxford University Press, New York 2007
Diagnosis and management of MODY in a pediatric setting.
Pp. 84-93. In: Diabetes in Childhood and Adolescence (Eds. Chiarelli F, Dahl-Jørgensen K & Kiess W). Karger, Basel, Switzerland 2005. ISBN 3-8055-7766-4.
Permanent Neonatal Diabetes mellitus due to Glucokinase Deficiency.
In: Matschinsky FM, Magnusson, M (eds): Glucokinase and Glycemic Disease: From basics to novel therapeutics. Front Diabetes. Basel, Karger, 2004, vol 16, pp 65-74.
Glucokinase and the regulation of blood sugar: A mathematical model predicts the threshold for glucose stimulated insulin releas
In: Matschinsky FM, Magnusson M (eds): Glucokinase and glycemic disease: From basics to novel therapeutics. Front. Diabetes. Basel, Karger 2004, vol 16, pp 92-109.
Novel monogenic causes of diabetes and pancreatic exocrine dysfunction
- Disputert:
- oktober 2006
- Hovedveileder:
- Pål R. Njølstad
Clinical and molecular aspects of monogenic diabetes mellitus
- Disputert:
- november 2005
- Hovedveileder:
- Oddmund Søvik, Pål R. Njølstad
Health-related quality of life in adolescents with type 1 diabetes
- Disputert:
- mars 2005
- Hovedveileder:
- Oddmund Søvik
Mental health of African school children : epidemiological, clinical and neuropsychological studies from Kinshasa, The democrati
- Disputert:
- november 2005
- Hovedveileder:
- Torkel Tylleskær
Low birthweight children: Long-term neuro-impairments.
- Disputert:
- februar 2004
- Hovedveileder:
Metabolic Markers of Cobalamin and Folate Status in a Pediatric Setting.
- Disputert:
- mai 2004
- Hovedveileder:
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
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