Associated Papers
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Bioinformatics (oxford, England), 2024
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Biorxiv : the Preprint Server for Biology, 2023
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.
Cameron J et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2012
Pregnancy outcomes in familial hypercholesterolemia: a registry-based study.
Toleikyte I et al.
Circulation, 2011
Children with familial hypercholesterolemia are characterized by an inflammatory imbalance between the tumor necrosis factor α system and interleukin-10.
Narverud I et al.
Atherosclerosis, 2011
Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.
Leren TP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy.
Berge KE et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2006
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Heath KE et al.
European Journal of Human Genetics : Ejhg, 2001
Splice-site mutations in atherosclerosis candidate genes: relating individual information to phenotype.
von Kodolitsch Y et al.
Circulation, 1999
Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry.
Loubser O et al.
Clinical Genetics, 1999
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
Rødningen OK et al.
Human Mutation, 1999
Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects.
Tonstad S et al.
European Journal of Clinical Investigation, 1998
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia.
Leren TP et al.
Human Genetics, 1998
Molecular genetics of familial hypercholesterolaemia in Norway.
Leren TP et al.
Journal of Internal Medicine, 1997
[Application of gene technology in the diagnosis of familial hypercholesterolemia].
Leren TP et al.
Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke, 1997
A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
Sundvold H et al.
Human Mutation, 1996
Apheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia.
Græsdal A et al.
Journal of Clinical Lipidology, 0