Bruland O - Search Results

1

De novo Huntington disease caused by 26-44 CAG repeat expansion on a low-risk haplotype.

Houge G, Bruland O, Bjørnevoll I, Hayden MR, Semaka A. Houge G, et al. Among authors: bruland o. Neurology. 2013 Sep 17;81(12):1099-100. doi: 10.1212/WNL.0b013e3182a4a4af. Epub 2013 Aug 14. Neurology. 2013. PMID: 23946314 Free PMC article.

2

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

3

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S. Benko S, et al. Among authors: bruland o. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2. J Med Genet. 2011. PMID: 22051515

4

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.

5

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C. Xu L, et al. Among authors: bruland o. Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15. Am J Hum Genet. 2018. PMID: 30449416 Free PMC article.

6

A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.

Bredrup C, Stokowy T, McGaughran J, Lee S, Sapkota D, Cristea I, Xu L, Tveit KS, Høvding G, Steen VM, Rødahl E, Bruland O, Houge G. Bredrup C, et al. Among authors: bruland o. Eur J Hum Genet. 2019 Apr;27(4):574-581. doi: 10.1038/s41431-018-0323-z. Epub 2018 Dec 20. Eur J Hum Genet. 2019. PMID: 30573803 Free PMC article.

7

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.

Bredrup C, Cristea I, Safieh LA, Di Maria E, Gjertsen BT, Tveit KS, Thu F, Bull N, Edward DP, Hennekam RCM, Høvding G, Haugen OH, Houge G, Rødahl E, Bruland O. Bredrup C, et al. Among authors: bruland o. Hum Mol Genet. 2021 Mar 25;30(1):72-77. doi: 10.1093/hmg/ddab014. Hum Mol Genet. 2021. PMID: 33450762 Free PMC article.

8

A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia.

Cristea I, Abarca H, Christensen Mellgren AE, Trubnykova M, Mehrasa R, Peters DJM, Houge G, Hennekam RCM, Rødahl E, Bruland O, Bredrup C. Cristea I, et al. Among authors: bruland o. FEBS Lett. 2023 May;597(9):1290-1299. doi: 10.1002/1873-3468.14597. Epub 2023 Feb 24. FEBS Lett. 2023. PMID: 36776133 Free article.

9

Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.

Tjensvoll K, Bruland O, Floderus Y, Skadberg Ø, Sandberg S, Apold J. Tjensvoll K, et al. Among authors: bruland o. Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971. Dis Markers. 2003. PMID: 14757946 Free PMC article.

10

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA. Haugarvoll K, et al. Among authors: bruland o. PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. PLoS One. 2017. PMID: 28052128 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

296 results

Search Page