Associated Papers
Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.
Molaee Z et al.
Genes, 2025
Changes of RAS Pathway Phosphorylation in Lymphoblastoid Cell Lines from Noonan Syndrome Patients Carrying Hypomorphic Variants in Two NS Genes.
Tritto V et al.
International Journal of Molecular Sciences, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
Doucette LP et al.
European Journal of Human Genetics : Ejhg, 2021
Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?
Ferrari L et al.
European Journal of Human Genetics : Ejhg, 2020
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
Genetic regulation of plasma von Willebrand factor levels in health and disease.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Sassi C et al.
Plos One, 2016
Low-density lipoprotein receptor-related protein 1 polymorphism 663 C > T affects clotting factor VIII activity and increases the risk of venous thromboembolism.
Vormittag R et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Low-density lipoprotein receptor-related protein polymorphisms in patients with elevated factor VIII coagulant activity and venous thrombosis.
Cunningham N et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2005
Genetic and functional characteristics of the human in vivo LRP1/A2MR receptor suggested as a risk marker for Alzheimer's disease and other complex (degenerative) diseases.
Gläser C et al.
Neuroscience Research, 2004
The LDL receptor-related protein (LRP1/A2MR) and coronary atherosclerosis--novel genomic variants and functional consequences.
Schulz S et al.
Human Mutation, 2002
Sequencing of the coding exons of the LRP1 and LDLR genes on individual DNA samples reveals novel mutations in both genes.
Van Leuven F et al.
Atherosclerosis, 2001