Etabl. av core facility for genetiske koblingsanalyser
- Prosjektnummer
- 2004231
- Ansvarlig person
- Dag Undlien
- Institusjon
- Oslo universitetssykehus HF
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Generic Health Relevance
- Forskningsaktivitet
- 2. Aetiology
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.
J Clin Endocrinol Metab 2009 Oct;94(10):4086-93. Epub 2009 sep 22
PMID: 19773398
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
Clin Genet 2009 Oct;76(4):398-403. Epub 2009 aug 10
PMID: 19673951
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
Acta Ophthalmol 2010 May;88(3):323-8. Epub 2009 jan 30
PMID: 19183411
Genome-wide linkage analysis with clustered SNP markers.
J Biomol Screen 2009 Jan;14(1):92-6.
PMID: 19171925
CTLA-4 polymorphisms in allergy and asthma and the TH1/ TH2 paradigm.
J Allergy Clin Immunol 2004 Aug;114(2):280-7.
PMID: 15316504
No evidence for association of the TATA-box binding protein glutamine repeat sequence or the flanking chromosome 6q27 region with type 1 diabetes.
Biochem Biophys Res Commun 2005 Jun;331(2):435-41.
PMID: 15850778
Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes.
Nat Genet 2005 Feb;37(2):110-1; author reply 112-3.
PMID: 15678134
Structured incorporation of prior information in relationship identification problems.
Ann Hum Genet 2007 Jul;71(Pt 4):501-18. Epub 2007 jan 18
PMID: 17233753
Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
Acta Neurol Scand 2008 Apr;117(4):289-92. Epub 2007 okt 10
PMID: 17927801
The FCRL3 -169T>C polymorphism is associated with rheumatoid arthritis and shows suggestive evidence of involvement with juvenile idiopathic arthritis in a Scandinavian panel of autoimmune diseases.
Ann Rheum Dis 2007 Dec. Epub 2007 des 7
PMID: 18065500
Linkage disequilibrium and haplotype blocks in the MHC vary in an HLA haplotype specific manner assessed mainly by DRB1*03 and DRB1*04 haplotypes.
Genes Immun 2006 Mar;7(2):130-40.
PMID: 16395395
FOXP3 polymorphisms in type 1 diabetes and coeliac disease.
J Autoimmun 2006 Sep;27(2):140-4. Epub 2006 sep 20
PMID: 16996248
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
N Engl J Med 2007 Jan;356(3):237-47.
PMID: 17229951
Association analysis in type 1 diabetes of the PRSS16 gene encoding a thymus-specific serine protease.
Hum Immunol 2007 Jul;68(7):592-8. Epub 2007 apr 13
PMID: 17584581
Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes.
Allergy 2007 Apr;62(4):429-36.
PMID: 17362255
Polymorphisms in the cathepsin L2 (CTSL2) gene show association with type 1 diabetes and early-onset myasthenia gravis.
Hum Immunol 2007 Sep;68(9):748-55. Epub 2007 jun 28
PMID: 17869649
Genetic mapping of epilepsy
- Disputert:
- august 2009
- Hovedveileder:
- Dag Undlien
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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