Author network for Lena Tjeldhorn by COREMINE medical

Publications 2011

Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G (2011)
Protein C mutation (A267T) results in ER retention and unfolded protein response activation
PLoS One, 6 (8), e24009
PubMed 21901152

Publications 2010

Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G (2010)
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport
BMC Cell Biol, 11, 67
PubMed 20815936

Tjeldhorn L, Sandset PM, Haugbro K, Skretting G (2010)
Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis
Thromb Res, 125 (3), 230-4
PubMed 19535131

Publications 2009

Rand-Hendriksen S, Lundby R, Tjeldhorn L, Andersen K, Offstad J, Semb SO, Smith HJ, Paus B, Geiran O (2009)
Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome
Eur J Hum Genet, 17 (10), 1222-30
PubMed 19293838

Publications 2007

Rand-Hendriksen S, Tjeldhorn L, Lundby R, Semb SO, Offstad J, Andersen K, Geiran O, Paus B (2007)
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome
Am J Med Genet A, 143A (17), 1968-77
PubMed 17663468

Publications 2006

Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B (2006)
Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy
Genet Test, 10 (4), 258-64
PubMed 17253931