Associated Papers
Clinicopathologic, Proteomic and Outcome Characteristics of Renal Apolipoprotein C-II Amyloidosis: A Case Series.
Nasr SH et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.
Rabbani B et al.
International Journal of Genomics, 2024
Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.
Pan-Lizcano R et al.
International Journal of Molecular Sciences, 2022
Apolipoprotein genetic variants and hereditary amyloidosis.
Jeraj N et al.
Current Opinion in Lipidology, 2021
Renal amyloidosis: an update on diagnosis and pathogenesis.
Gupta N et al.
Protoplasma, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Hereditary systemic amyloidosis caused by K19T apolipoprotein C-II variant.
Liapis K et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Apolipoprotein CII Amyloidosis Associated With p.Lys41Thr Mutation.
Sethi S et al.
Kidney International Reports, 2018
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014
Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.
Di Filippo M et al.
Plos One, 2014