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
DOI 10.1186/s12881-015-0260-4, 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
DOI 10.1371/journal.pone.0024009, 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
DOI 10.1186/1471-2121-11-67, 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
DOI 10.1038/ejhg.2009.30, 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
DOI 10.1016/j.thromres.2009.05.013, 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
DOI 10.1002/ajmg.a.31759, 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
DOI 10.1089/gte.2006.258-264, PubMed 17253931