Mathilde Di Filippo (Mathilde Di-Filippo)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 13

Top Topics

Low Density Lipoprotein

Mild Cognitive Impairment

Top Venues

Clinical chemistry and laboratory medicine

Arteriosclerosis, thrombosis, and vascular biology

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Louise Michenaud, Nathanaël Marrié, Antoine Rimbert, Oriane Marmontel, Sybil Charrière, Charles Gibert, Caroline Bouveyron, Jade Mammi, Bertrand Cariou, Philippe Moulin, Mathilde Di Filippo
Evaluation of biochemical algorithms to screen dysbetalipoproteinemia in ε2ε2 and rare APOE variants carriers. Clinical chemistry and laboratory medicine (2024)
Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan, David Cheillan, Oriane Marmontel, Gerald Raverot, Pascale Benlian, Mathilde Di Filippo
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations. Clinical chemistry and laboratory medicine (2024)
Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan, David Cheillan, Oriane Marmontel, Gerald Raverot, Pascale Benlian, Mathilde Di Filippo
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations. Clinical chemistry and laboratory medicine 62 (9) (2024)
Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan, David Cheillan, Oriane Marmontel, Gerald Raverot, Pascale Benlian, Mathilde Di Filippo
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations. Clinical chemistry and laboratory medicine 62 (9) (2024)
Mathilde Bonnot Ruget, Philippe Moulin, Cécile Pagan, David Cheillan, Oriane Marmontel, Gerald Raverot, Pascale Benlian, Mathilde Di Filippo
Diagnostic challenge between a frequent polygenic hypocholesterolemia and an unusual Smith Lemli Opitz syndrome related to bi-allelic DHCR7 mutations. Clinical chemistry and laboratory medicine 62 (9) (2024)
Zoé Henry, Alexandre Janin, Séverine Nony, Oriane Marmontel, Bertrand Cariou, Marie Marrec, Cyrielle Caussy, Sybil Charrière, Philippe Moulin, Jennifer Rieusset, Frédéric Perros, Mathilde Di Filippo
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T. Clinical chemistry and laboratory medicine (2023)
Oriane Marmontel, Yara Abou-Khalil, Olivier Bluteau, Bertrand Cariou, Valérie Carreau, Sybil Charrière, Eleonore Divry, Antonio Gallo, Philippe Moulin, François Paillard, Noël Peretti, Jean-Pierre Rabes, Mathilde Varret, Alain Carrié, Mathilde Di Filippo
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia. Arteriosclerosis, thrombosis, and vascular biology (2023)
Joséphine Vasse, Audrey Lassartesse, Oriane Marmontel, Sybil Charrière, Caroline Bouveyron, Nathanaël Marrié, Philippe Moulin, Mathilde Di Filippo
Assessment of three equations to calculate plasma LDL cholesterol concentration in fasting and non-fasting hypertriglyceridemic patients. Clinical chemistry and laboratory medicine (2023)
Youmna Ghaleb, Sandy Elbitar, Anne Philippi, Petra El Khoury, Yara Azar, Miangaly Andrianirina, Alexia Loste, Yara Abou-Khalil, Gaël Nicolas, Marie Le Borgne, Philippe Moulin, Mathilde Di Filippo, Sybil Charrière, Michel Farnier, Cécile Yelnick, Valérie Carreau, Jean Ferrières, Jean-Michel Lecerf, Alexa Derksen, Geneviève Bernard, Marie-Soleil Gauthier, Benoit Coulombe, Dieter Lütjohann, Bertrand Fin, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Jean-Pierre Rabes, Catherine Boileau, Marianne Abifadel, Mathilde Varret
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia. Metabolites 12 (3) (2022)
Yara Abou Khalil, Oriane Marmontel, Jean Ferrières, François Paillard, Cécile Yelnik, Valérie Carreau, Sybil Charrière, Eric Bruckert, Antonio Gallo, Philippe Giral, Anne Philippi, Olivier Bluteau, Catherine Boileau, Marianne Abifadel, Mathilde Di Filippo, Alain Carrié, Jean-Pierre Rabes, Mathilde Varret
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. International journal of molecular sciences 23 (10) (2022)
Wieneke Dijk, Mathilde Di Filippo, Sander Kooijman, Robin van Eenige, Antoine Rimbert, Amandine Caillaud, Aurélie Thedrez, Lucie Arnaud, Amanda Pronk, Damien Garçon, Thibaud Sotin, Pierre Lindenbaum, Enrique Ozcariz Garcia, Jean-Paul Pais de Barros, Laurence Duvillard, Karim Si-Tayeb, Nuria Amigo, Jean-Yves Le Questel, Patrick C N Rensen, Cédric Le May, Philippe Moulin, Bertrand Cariou
Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia. Circulation 146 (10) (2022)
Antoine Rimbert, Ming Wai Yeung, Nawar Dalila, Chris H L Thio, Haojie Yu, Natalia Loaiza, Federico Oldoni, Adriaan van der Graaf, Siqi Wang, M Abdullah Said, Lisanne L Blauw, Aurore Girardeau, Lise Bray, Amandine Caillaud, Vincent W Bloks, Marie Marrec, Philippe Moulin, Patrick C N Rensen, Bart van de Sluis, Harold Snieder, Mathilde Di Filippo, Pim van der Harst, Anne Tybjaerg-Hansen, Philip Zimmerman, Bertrand Cariou, Jan Albert Kuivenhoven
Variants in the GPR146 Gene Are Associated With a Favorable Cardiometabolic Risk Profile. Arteriosclerosis, thrombosis, and vascular biology 42 (10) (2022)
Xavier Vanhoye, Alexandre Janin, Amandine Caillaud, Antoine Rimbert, Fabienne Venet, Morgane Gossez, Wieneke Dijk, Oriane Marmontel, Séverine Nony, Charlotte Chatelain, Christine Durand, Pierre Lindenbaum, Jennifer Rieusset, Bertrand Cariou, Philippe Moulin, Mathilde Di Filippo
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants. International journal of molecular sciences 23 (8) (2022)