Associated Papers
The hidden burden of kidney damage in chylomicronemia syndromes.
D'Erasmo L et al.
Atherosclerosis, 2026
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
The Ongoing Utility of lipoprotein lipase activity in diagnosing familial Chylomicronemia Syndrome.
Fariña G et al.
Biochemistry and Biophysics Reports, 2025
Chronic pancreatitis patient-derived organoids reveal new paths to precision therapeutics.
Osorio-Vasquez V et al.
Biorxiv : the Preprint Server for Biology, 2025
Lipoprotein Lipase (LPL) Gene Mutation in a Girl With Diabetic Ketoacidosis, Acute Pancreatitis, and Hypertriglyceridemia.
Düzcan Kilimci D et al.
Cureus, 2025
What is the phenotype of heterozygous lipoprotein lipase deficiency?
Hegele RA
Current Opinion in Lipidology, 2025
Treatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.
Larouche M et al.
Journal of the Endocrine Society, 2025
Intronic SYNE1 Gene Novel Variant Associated with Myocardial Infarction in Young People with a Family History of Premature Atherosclerosis: A Case-Control Study in the Polish Population.
Ambroziak M et al.
International Journal of Molecular Sciences, 2025
Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Perera SD et al.
Genes, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Bashir B et al.
Genetics in Medicine Open, 2025
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Genetic basis of hypertriglyceridemia.
Ariza Corbo MJ et al.
Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024
Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.
Bashir B et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2024
Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk.
Carreras-Torres R et al.
Genome Medicine, 2024
Anthropometric measurements as a key diagnostic tool for familial partial lipodystrophy in women.
Veras VR et al.
Diabetology & Metabolic Syndrome, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Elevated plasma triglycerides increase the risk of psoriasis: a cohort and Mendelian randomization study.
Greve AM et al.
The British Journal of Dermatology, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Correlation analysis of hypertension, traditional Chinese medicine constitution, and LPL gene polymorphism in the elderly in communities in Shanghai.
Tao Y et al.
Technology and Health Care : Official Journal of the European Society for Engineering and Medicine, 2024
Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.
Zhang G et al.
Lipids in Health and Disease, 2023
Screening program for familial hyperchylomicronemia syndrome detection: Experience of a university health system.
Masson W et al.
Archives of Endocrinology and Metabolism, 2023
Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.
Rosenson RS et al.
Nature Medicine, 2023
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.
Abedi AH et al.
Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
Rutkowska L et al.
Genes, 2022
Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.
Taghizadeh E et al.
Biochemical Genetics, 2022
LPL, FNDC5 and PPARγ gene polymorphisms related to body composition parameters and lipid metabolic profile in adolescents from Southern Italy.
Perrone B et al.
Journal of Translational Medicine, 2022
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.
Dos Santos CMA et al.
Frontiers in Genetics, 2021
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study.
Kaltoft M et al.
European Heart Journal, 2020
Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.
Semenova AE et al.
Journal of Cardiovascular Development and Disease, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
A novel variant in LPL gene is associated with familial combined hyperlipidemia.
Taghizadeh E et al.
Biofactors (oxford, England), 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Deciphering the role of V200A and N291S mutations leading to LPL deficiency.
Botta M et al.
Atherosclerosis, 2019
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS et al.
Journal of Lipid Research, 2018
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Qin YY et al.
Journal of Clinical Laboratory Analysis, 2018
Lipoprotein lipase gene polymorphisms as risk factors for stroke: a computational and meta-analysis.
Nejati M et al.
Iranian Journal of Basic Medical Sciences, 2018