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A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritisLong-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3Lipase gene fusion: a new route to chronic pancreatitisWolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeKir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactionsRare and low-frequency coding variants alter human adult heightThe zebrafish homeobox gene hox[zf-114]: primary structure, expression pattern and evolutionary aspects.Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.Loss-of-function mutations in SLC30A8 protect against type 2 diabetesEvaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.Accurate single-nucleotide polymorphism allele assignment in trisomic or duplicated regions by using a single base-extension assay with MALDI-TOF mass spectrometry.Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children.Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.Exome sequencing and genetic testing for MODY.A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.Absence of diabetes and pancreatic exocrine dysfunction in a transgenic model of carboxyl-ester lipase-MODY (maturity-onset diabetes of the young).Structure and neural expression of a zebrafish homeobox sequence.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 diseaseAssociation of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.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.A zebrafish homeobox-containing gene with embryonic transcription.A zebrafish homologue of the murine Hox-2.1 gene.A zebrafish engrailed-like homeobox sequence expressed during embryogenesis.Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionJoint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetesSUMOylation of pancreatic glucokinase regulates its cellular stability and activityMutations in HNF1A result in marked alterations of plasma glycan profilePI3-kinase mutation linked to insulin and growth factor resistance in vivoThe Hypoglycemic Phenotype Is Islet Cell-Autonomous in Short-Chain Hydroxyacyl-CoA Dehydrogenase-Deficient Mice.De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.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.A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.Role of molecular genetics in transforming diagnosis of diabetes mellitus.The role of pancreatic imaging in monogenic diabetes mellitus.Serum Acylcarnitines and Risk of Cardiovascular Death and Acute Myocardial Infarction in Patients With Stable Angina PectorisSpatiotemporal 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.The kynurenine:tryptophan ratio as a predictor of incident type 2 diabetes mellitus in individuals with coronary artery disease.
P50
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P50
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Noors onderzoeker
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Pål R Njølstad
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P106
P2038
Pal_Njolstad
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1961-01-01T00:00:00Z
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