Mathilde Di Filippo

Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia

Mathilde Di Filippo, Philippe Moulin, Pascal Roy et al. · Journal of Hepatology · 2014 · 140 citations

Metabolic Syndrome, Metabolic Disorder, Genetics +14

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

Marie Marduel, Alain Carrié, Agnès Sassolas et al. · Human Mutation · 2010 · 113 citations · Full text

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Kanika Dharmayat, Antonio J. Vallejo‐Vaz, Christophe Stevens et al. · The Lancet · 2023 · 71 citations · Full text

GPIHBP1 C89F Neomutation and Hydrophobic C-Terminal Domain G175R Mutation in Two Pedigrees with Severe Hyperchylomicronemia

Sybil Charrière, Noël Peretti, Sophie Bernard et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 57 citations · Full text

An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site

Cyrielle Caussy, Sybil Charrière, Christophe Marçais et al. · The American Journal of Human Genetics · 2014 · 56 citations · Full text

Apoa5 3′, Biochemistry, Medicine +11