Associated Papers
The potential of deep learning on the discovery of new genes implicated in differences of sex development.
von der Decken I et al.
Computational and Structural Biotechnology Journal, 2026
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1
Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.
Dong W et al.
Journal of Lipid Research, 2022
35460704 (PubMed )
Supplement: mmc1.pdf
Lipoprotein(a) beyond the kringle IV repeat polymorphism: The complexity of genetic variation in the LPA gene.
Coassin S et al.
Atherosclerosis, 2022
Nonsynonymous SNPs in LPA homologous to plasminogen deficiency mutants represent novel null apo(a) alleles.
Morgan BM et al.
Journal of Lipid Research, 2020
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_10
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
Mack S et al.
Journal of Lipid Research, 2017
28512139 (PubMed )
Supplement: 10.1194_M076232_jlr.M076232-1.pdf
Lipoprotein(a) concentration, genetic variants, apo(a) isoform size, and cellular cholesterol efflux in patients with elevated Lp(a) and coronary heart disease submitted or not to lipoprotein apheresis: An Italian case-control multicenter study on Lp(a).
Stefanutti C et al.
Journal of Clinical Lipidology, 0
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