Bruland O - Search Results

1

Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.

Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: bruland o. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.

2

PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

Knappskog PM, Eiken HG, Martínez A, Bruland O, Apold J, Flatmark T. Knappskog PM, et al. Among authors: bruland o. Hum Mutat. 1996;8(3):236-46. doi: 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8889583

3

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard.

Bruland O, Almqvist EW, Goldberg YP, Boman H, Hayden MR, Knappskog PM. Bruland O, et al. Clin Genet. 1999 Mar;55(3):198-202. doi: 10.1034/j.1399-0004.1999.550308.x. Clin Genet. 1999. PMID: 10334474

4

One-tube restriction enzyme digest and fluorescent labeling for restriction endonuclease fingerprinting single-strand conformational polymorphism.

Bruland O, Knappskog PM. Bruland O, et al. Biotechniques. 2004 Dec;37(6):906, 908, 910 passim. doi: 10.2144/04376BM04. Biotechniques. 2004. PMID: 15597538 Free article. No abstract available.

5

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I.

Bøe Wolff AS, Oftedal B, Johansson S, Bruland O, Løvås K, Meager A, Pedersen C, Husebye ES, Knappskog PM. Bøe Wolff AS, et al. Among authors: bruland o. Genes Immun. 2008 Mar;9(2):130-6. doi: 10.1038/sj.gene.6364457. Epub 2008 Jan 17. Genes Immun. 2008. PMID: 18200029 Free article.

6

Inverse correlation between PDGFC expression and lymphocyte infiltration in human papillary thyroid carcinomas.

Bruland O, Fluge Ø, Akslen LA, Eiken HG, Lillehaug JR, Varhaug JE, Knappskog PM. Bruland O, et al. BMC Cancer. 2009 Dec 8;9:425. doi: 10.1186/1471-2407-9-425. BMC Cancer. 2009. PMID: 19968886 Free PMC article.

7

Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy.

Bredrup C, Stang E, Bruland O, Palka BP, Young RD, Haavik J, Knappskog PM, Rødahl E. Bredrup C, et al. Among authors: bruland o. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5578-82. doi: 10.1167/iovs.09-4933. Epub 2010 May 19. Invest Ophthalmol Vis Sci. 2010. PMID: 20484579

8

Global gene expression profiling and tissue microarray reveal novel candidate genes and down-regulation of the tumor suppressor gene CAV1 in sporadic vestibular schwannomas.

Aarhus M, Bruland O, Sætran HA, Mork SJ, Lund-Johansen M, Knappskog PM. Aarhus M, et al. Among authors: bruland o. Neurosurgery. 2010 Oct;67(4):998-1019; discussion 1019. doi: 10.1227/NEU.0b013e3181ec7b71. Neurosurgery. 2010. PMID: 20881564

9

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G. Berland S, et al. Among authors: bruland o. Eur J Hum Genet. 2013 Dec;21(12):1344-8. doi: 10.1038/ejhg.2013.71. Epub 2013 Apr 10. Eur J Hum Genet. 2013. PMID: 23572028 Free PMC article.

10

Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.

Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E. Mellgren AE, et al. Among authors: bruland o. Invest Ophthalmol Vis Sci. 2015 May;56(5):2909-15. doi: 10.1167/iovs.14-16014. Invest Ophthalmol Vis Sci. 2015. PMID: 26029887

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