Lena Tjeldhorn
Position: Biomedical Scientist, Msc, PhD
Phone: +47 2278 1176
Email:
 

Author network for Lena Tjeldhorn by COREMINE medical


Publications 2015

Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
BMC Med Genet, 16, 113
PubMed 26684006

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

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

Tjeldhorn L, Sandset PM, Haugbro K, Skretting G (2009)
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 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