Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single-Center Experience.
Erdoğan KM et al.
Annals of Human Genetics, 2025
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Pregnancy in homozygous familial hypercholesterolemia-A case series.
Bláha M et al.
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2022
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.
Oommen D et al.
Frontiers in Genetics, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente A et al.
International Journal of Molecular Sciences, 2018
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
Bourbon M et al.
Current Opinion in Lipidology, 2017
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang L et al.
Scientific Reports, 2016
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
Etxebarria A et al.
Human Mutation, 2015
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia.
Jiang L et al.
Journal of Clinical Lipidology, 0