Associated Papers
Biochemical, Clinical, and Genetic Characteristics of Mexican Patients with Primary Hypertriglyceridemia, Including the First Case of Hyperchylomicronemia Syndrome Due to GPIHBP1 Deficiency.
Rodríguez-Gutiérrez PG et al.
International Journal of Molecular Sciences, 2022
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.
Brodehl A et al.
Genes, 2019
31718026 (PubMed )
Supplement: genes-10-00918-s001.pdf
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf
Genetic variants in triglyceride metabolism genes among individuals with hypertriglyceridemia in Colombia.
Puerto-Baracaldo K et al.
Journal of Clinical Lipidology, 0
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