Exome Sequencing in Monogenic Diabetes
- Prosjektnummer
- 911752
- Ansvarlig person
- Pål Rasmus Njølstad
- Institusjon
- Helse Bergen HF
- Prosjektkategori
- Utenlandsstipend
- Helsekategori
- Metabolic and Endocrine
- Forskningsaktivitet
- 4. Detection and Diagnosis
Mutations in HNF1A result in marked alterations of plasma glycan profile.
Diabetes 2013 Apr;62(4):1329-37. Epub 2012 des 28
PMID: 23274891
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.
Pediatr Diabetes 2013 Sep;14(6):466-72. Epub 2012 sep 18
PMID: 22989030
[Tailored medicine or narcissomics?].
Tidsskr Nor Laegeforen 2012 Sep;132(16):1844-5.
PMID: 22986961
Metabolic outcomes in young children with type 1 diabetes differ between treatment centers: the Hvidoere Study in Young Children 2009.
Pediatr Diabetes 2013 Sep;14(6):422-8. Epub 2012 sep 10
PMID: 22957743
Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
Clin Genet 2013 May;83(5):439-45. Epub 2012 aug 20
PMID: 22831748
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
Biochim Biophys Acta 2012 Nov;1822(11):1705-15. Epub 2012 jul 20
PMID: 22820548
Exome sequencing and genetic testing for MODY.
PLoS One 2012;7(5):e38050. Epub 2012 mai 25
PMID: 22662265
CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations.
Genes Immun 2012 Jul;13(5):431-6. Epub 2012 apr 19
PMID: 22513452
To test, or not to test: time for a MODY calculator?
Diabetologia 2012 May;55(5):1231-4. Epub 2012 mar 2
PMID: 22382521
The role of pancreatic imaging in monogenic diabetes mellitus.
Nat Rev Endocrinol 2012 Mar;8(3):148-59. Epub 2011 nov 29
PMID: 22124438
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
Pediatr Diabetes 2012 Mar;13(2):e1-5. Epub 2011 jul 19
PMID: 21767339
Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.
Pediatr Diabetes 2012 Mar;13(2):155-62. Epub 2011 apr 24
PMID: 21518169
The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.
Pancreatology 2012, in press.
Type 2 diabetes genes: present status and data from Norwegian studies.
Norsk Epidemiology 2012, in press.
Monogenic diabetes mellitus in Norway.
Norsk Epidemiology 2012, in press.
The molecular genetics and pathophysiology of congenital hyperinsulinism caused by short-chain 3-hydroxyacyl-CoA dehydrogenase.
Frontiers in Diabetes, vol 21, pp. 137-145. Karger, Basel, 2012.
Behandling av monogen diabetes.
Diabeteshåndboken, Gyldendal. 2012, under trykking.
Hvorfor får man monogen diabetes?
Diabeteshåndboken, Gyldendal. 2012, under trykking.
Genetic Risk Factors for Type 2 Diabetes and Related Traits
- Disputert:
- juni 2012
- Hovedveileder:
- Pål Rasmus Njølstad
Phenotypic heterogeneity of mutations in glucokinase causing GCK-MODY (MODY2) diabetes: Studies of structure, function and regul
- Disputert:
- juni 2012
- Hovedveileder:
- Pål Rasmus Njølstad
Human pancreatic glucokinase; Structural and physico-chemical studies related to catalytic activation, kinetic cooperativity and
- Disputert:
- oktober 2012
- Hovedveileder:
- Pål Rasmus Njølstad
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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