State of the art-review and guidelines for management of Homozygous Familial Hypercholesterolemia in Children
Sophie Quennelle, Caroline Ovaert, Bertrand Cariou, Alain Carrié et autres
0 citationsArchives of cardiovascular diseases
Mathilde Di Filippo
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132Publications signalées
1585Citations signalées
7Affiliations récentes
Institutions déclarées
Lyon 1 UniversitéInsermInstitut National de Recherche pour l'Agriculture, l'Alimentation et l'EnvironnementHospices Civils de LyonLaboratoire de Biologie et Modélisation de la CelluleLaboratoire de recherche en cardiovasculaire, métabolisme, diabétologie et nutritionInstitut National des Sciences Appliquées de Lyon
Domaines associés
Lipid metabolism and disordersLipoproteins and Cardiovascular HealthDiabetes, Cardiovascular Risks, and LipoproteinsCancer, Lipids, and MetabolismCholesterol and Lipid Metabolism
Publications récentes
Evaluating Cobas ® b101 for lipid profile and SCORE2 risk assessment from capillary blood in population screening
Antoine Villemin, Sabine Zaepfel, Ihsane Benlyamani, Carole Neugnot et autres
0 citationsClinical Chemistry and Laboratory Medicine (CCLM)
Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing
Lisa Jeanpetit, Corentin Molitor, Alexandre Janin, Annie Fonteille et autres
0 citationsAtherosclerosis
LDLR -3′UTR Deletions Identified as a Genetic Cause of Hypobetalipoproteinemia: Evidence From Familial and Population-Based Studies
Antoine Lainé, Zoé Begué-Racapé, Pierre Lindenbaum, Amandine Caillaud et autres
0 citationsArteriosclerosis Thrombosis and Vascular Biology
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
Laurence Faivre, Camille Level, Régis Coutant, Patrice Rodien et autres
0 citationsAnnales d Endocrinologie
Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions
Laurence Faivre, Camille Level, Régis Coutant, Patrice Rodien et autres
0 citationsAnnales d Endocrinologie
296 NLRP1 activation in a skin model reveals a novel disease-relevant proinflammatory axis
0 citationsJournal of Investigative Dermatology
Corrigendum to ‘Global hospital-based disease management of acute diverticulitis: a prospective, international cohort study’ eClinicalMedicine 2025; published online Sept 29. https://doi.org/10.1016/j.eclinm.2025.103548
Asad Sami, Ayedi Fatma, Ababneh Hazim, Abakar Mourtada et autres
0 citationsEClinicalMedicine
Synergic combination of the monogenic ANGPTL3 p.H343R variant and a polygenic predisposition in a family with hypobetalipoproteinemia
Manon Levy, Oriane Marmontel, Séverine Nony, Antoine Rimbert et autres
0 citationsAtherosclerosis
Characterization of patients carrying CREB3L3 variants in multifactorial chylomicronemia syndrome
Mélanie Rama, Oriane Marmontel, Delphine Collin‐Chavagnac, Mathilde Di Filippo et autres
0 citationsAtherosclerosis
A rare gain of function variant of hepatic lipase attenuates hypercholesterolaemia and atherosclerosis in mice via an LDL receptor-independent mechanism
Thibaud Sotin, Xiaoke Ge, Milena Schönke, Lucie Vince et autres
6 citationsCardiovascular Research
Minigene splicing reporter assay: a high-stake tool for genetic diagnosis in familial hypobetalipoproteinemia
Zoé Henry, Alexandre Janin, Séverine Nony, Oriane Marmontel et autres
0 citationsAtherosclerosis
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