Mathilde Di Filippo

UF Dyslipidémies Service De Biochimie Et De Biologie Moléculaire Grand Est
Bron, France

Last Updated: 09/26/2026

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Found 57 publications

LDLR-3'UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies.

LDLR-3'UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: June 04, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: May 08, 2026

Evaluating Cobas® b101 for lipid profile and SCORE2 risk assessment from capillary blood in population screening.

Evaluating Cobas® b101 for lipid profile and SCORE2 risk assessment from capillary blood in population screening.

Journal: Clinical chemistry and laboratory medicine

Published: April 11, 2026

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Journal: Atherosclerosis

Published: November 08, 2025

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia.

Journal: Atherosclerosis

Published: March 23, 2025

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia.

Journal: Atherosclerosis

Published: January 24, 2025

KILDA: identifying KIV-2 repeats from kmers.

KILDA: identifying KIV-2 repeats from kmers.

Journal: NAR genomics and bioinformatics

Published: January 21, 2025

A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism.

A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism.

Journal: Cardiovascular research

Published: January 16, 2025

Interference of hypertriglyceridemia on total cholesterol assay with the new CHOL2 Abbott method on Architect analyser.

Interference of hypertriglyceridemia on total cholesterol assay with the new CHOL2 Abbott method on Architect analyser.

Journal: Clinical chemistry and laboratory medicine

Published: December 11, 2024

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Journal: Clinical genetics

Published: October 02, 2024

Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers.

Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers.

Journal: Clinical chemistry and laboratory medicine

Published: May 12, 2024

Showing 1-12 of 57

Last Updated: 09/26/2026