Lena Tjeldhorn

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

Svend Rand‐Hendriksen, Rigmor Lundby, Lena Tjeldhorn et al. · European Journal of Human Genetics · 2009 · 51 citations · Full text

Prevalence Data, Mendelian Disorder, Proven Marfan Syndrome +6

Search for correlations between <i>FBN1</i> genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

Svend Rand‐Hendriksen, Lena Tjeldhorn, Rigmor Lundby et al. · American Journal of Medical Genetics Part A · 2007 · 34 citations

Marfan Syndrome, Unrelated Norwegian Patients, Mendelian Disorder +13

Rapid and Efficient <i>FBN1</i> Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy

Lena Tjeldhorn, Svend Rand‐Hendriksen, Kristina Gervin et al. · Genetic Testing · 2006 · 20 citations

Engineering, Genetics, Molecular Biology +20

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome

Lena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy et al. · BMC Medical Genetics · 2015 · 14 citations · Full text

Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport

Lena Tjeldhorn, Nina Iversen, Kirsten Sandvig et al. · BMC Cell Biology · 2010 · 13 citations · Full text