Efficacy of daratumumab in refractory primary Sjögren disease

por Nocturne, Gaetane, Marmontel, Oriane, di Filippo, Mathilde, Chretien, Pascale, Krzysiek, Roman, Lifermann, Francois, Rahal, Nawal, Belkhir, Rakiba, Moulin, Philippe, Mariette, Xavier
Publicado 2023

Establishment of reference values of α-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a ra...

por Cuerq, Charlotte, Restier, Lioara, Drai, Jocelyne, Blond, Emilie, Roux, Adeline, Charriere, Sybil, Michalski, Marie-Caroline, Di Filippo, Mathilde, Levy, Emile, Lachaux, Alain, Peretti, Noël
Publicado 2016

Post-Heparin LPL Activity Measurement Using VLDL As a Substrate: A New Robust Method for Routine Assessment of Plasma Triglyceride Lipolysis Defects

por Di Filippo, Mathilde, Marçais, Christophe, Charrière, Sybil, Marmontel, Oriane, Broyer, Martine, Delay, Mireille, Merlin, Micheline, Nollace, Axel, Valéro, René, Lagarde, Michel, Pruneta-Deloche, Valérie, Moulin, Philippe, Sassolas, Agnès
Publicado 2014

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

por Marduel, Marie, Carrié, Alain, Sassolas, Agnes, Devillers, Martine, Carreau, Valérie, Di Filippo, Mathilde, Erlich, Danièle, Abifadel, Marianne, Marques-Pinheiro, Alice, Munnich, Arnold, Junien, Claudine, Boileau, Catherine, Varret, Mathilde, Rabès, Jean-Pierre
Publicado 2010

APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants

por Vanhoye, Xavier, Janin, Alexandre, Caillaud, Amandine, Rimbert, Antoine, Venet, Fabienne, Gossez, Morgane, Dijk, Wieneke, Marmontel, Oriane, Nony, Séverine, Chatelain, Charlotte, Durand, Christine, Lindenbaum, Pierre, Rieusset, Jennifer, Cariou, Bertrand, Moulin, Philippe, Di Filippo, Mathilde
Publicado 2022

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

por Abou Khalil, Yara, Marmontel, Oriane, Ferrières, Jean, Paillard, François, Yelnik, Cécile, Carreau, Valérie, Charrière, Sybil, Bruckert, Eric, Gallo, Antonio, Giral, Philippe, Philippi, Anne, Bluteau, Olivier, Boileau, Catherine, Abifadel, Marianne, Di-Filippo, Mathilde, Carrié, Alain, Rabès, Jean-Pierre, Varret, Mathilde
Publicado 2022

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia

por Dijk, Wieneke, Di Filippo, Mathilde, Kooijman, Sander, van Eenige, Robin, Rimbert, Antoine, Caillaud, Amandine, Thedrez, Aurélie, Arnaud, Lucie, Pronk, Amanda, Garçon, Damien, Sotin, Thibaud, Lindenbaum, Pierre, Ozcariz Garcia, Enrique, Pais de Barros, Jean-Paul, Duvillard, Laurence, Si-Tayeb, Karim, Amigo, Nuria, Le Questel, Jean-Yves, Rensen, Patrick C.N., Le May, Cédric, Moulin, Philippe, Cariou, Bertrand
Publicado 2022

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

por Ghaleb, Youmna, Elbitar, Sandy, Philippi, Anne, El Khoury, Petra, Azar, Yara, Andrianirina, Miangaly, Loste, Alexia, Abou-Khalil, Yara, Nicolas, Gaël, Le Borgne, Marie, Moulin, Philippe, Di-Filippo, Mathilde, Charrière, Sybil, Farnier, Michel, Yelnick, Cécile, Carreau, Valérie, Ferrières, Jean, Lecerf, Jean-Michel, Derksen, Alexa, Bernard, Geneviève, Gauthier, Marie-Soleil, Coulombe, Benoit, Lütjohann, Dieter, Fin, Bertrand, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde
Publicado 2022