Search Page
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
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis.
Thromb Res. 2010 Mar;125(3):230-4. doi: 10.1016/j.thromres.2009.05.013. Epub 2009 Jun 17.
Thromb Res. 2010.
PMID: 19535131
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport.
Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G.
Tjeldhorn L, et al.
BMC Cell Biol. 2010 Sep 6;11:67. doi: 10.1186/1471-2121-11-67.
BMC Cell Biol. 2010.
PMID: 20815936
Free PMC article.
Item in Clipboard
Protein C mutation (A267T) results in ER retention and unfolded protein response activation.
Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G.
Tjeldhorn L, et al.
PLoS One. 2011;6(8):e24009. doi: 10.1371/journal.pone.0024009. Epub 2011 Aug 25.
PLoS One. 2011.
PMID: 21901152
Free PMC article.
Item in Clipboard
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B.
Tjeldhorn L, et al.
BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4.
BMC Med Genet. 2015.
PMID: 26684006
Free PMC article.
Item in Clipboard
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.
Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B.
Tjeldhorn L, et al.
Genet Test. 2006 Winter;10(4):258-64. doi: 10.1089/gte.2006.258-264.
Genet Test. 2006.
PMID: 17253931
Item in Clipboard
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.
Rand-Hendriksen S, Tjeldhorn L, Lundby R, Semb SO, Offstad J, Andersen K, Geiran O, Paus B.
Rand-Hendriksen S, et al. Among authors: tjeldhorn l.
Am J Med Genet A. 2007 Sep 1;143A(17):1968-77. doi: 10.1002/ajmg.a.31759.
Am J Med Genet A. 2007.
PMID: 17663468
Item in Clipboard
Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome.
Rand-Hendriksen S, Lundby R, Tjeldhorn L, Andersen K, Offstad J, Semb SO, Smith HJ, Paus B, Geiran O.
Rand-Hendriksen S, et al. Among authors: tjeldhorn l.
Eur J Hum Genet. 2009 Oct;17(10):1222-30. doi: 10.1038/ejhg.2009.30. Epub 2009 Mar 18.
Eur J Hum Genet. 2009.
PMID: 19293838
Free PMC article.
Item in Clipboard
Management of Wrong Blood Transfusion to an RhD Negative Woman in Labor.
Titze TL, Hamnvik LHD, Hauglum IM, Carlsen AET, Tjeldhorn L, Nguyen NT, Akkök ÇA.
Titze TL, et al. Among authors: tjeldhorn l.
Int J Womens Health. 2023 Jan 4;15:1-6. doi: 10.2147/IJWH.S390661. eCollection 2023.
Int J Womens Health. 2023.
PMID: 36628052
Free PMC article.
Item in Clipboard
Cite
Cite