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

по Caussy, Cyrielle, Charrière, Sybil, Marçais, Christophe, Di Filippo, Mathilde, Sassolas, Agnès, Delay, Mireille, Euthine, Vanessa, Jalabert, Audrey, Lefai, Etienne, Rome, Sophie, Moulin, Philippe
Опубликовано 2014

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...

по Cuerq, Charlotte, Restier, Lioara, Drai, Jocelyne, Blond, Emilie, Roux, Adeline, Charriere, Sybil, Michalski, Marie-Caroline, Di Filippo, Mathilde, Levy, Emile, Lachaux, Alain, Peretti, Noël
Опубликовано в: Orphanet J Rare Dis (2016)

Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

по Di Filippo, Mathilde, Créhalet, Hervé, Samson-Bouma, Marie Elisabeth, Bonnet, Véronique, Aggerbeck, Lawrence P., Rabès, Jean-Pierre, Gottrand, Frederic, Luc, Gérald, Bozon, Dominique, Sassolas, Agnès
Опубликовано 2012

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

по 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
Опубликовано 2014

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

по 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
Опубликовано 2010

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

по Ghaleb, Youmna, Elbitar, Sandy, El Khoury, Petra, Bruckert, Eric, Carreau, Valérie, Carrié, Alain, Moulin, Philippe, Di-Filippo, Mathilde, Charriere, Sybil, Iliozer, Harout, Farnier, Michel, Luc, Gérald, Rabès, Jean-Pierre, Boileau, Catherine, Abifadel, Marianne, Varret, Mathilde
Опубликовано в: Eur J Hum Genet (2018)

Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease

по Cuerq, Charlotte, Henin, Emilie, Restier, Lioara, Blond, Emilie, Drai, Jocelyne, Marçais, Christophe, Di Filippo, Mathilde, Laveille, Christian, Michalski, Marie-Caroline, Poinsot, Pierre, Caussy, Cyrielle, Sassolas, Agnès, Moulin, Philippe, Reboul, Emmanuelle, Charriere, Sybil, Levy, Emile, Lachaux, Alain, Peretti, Noël
Опубликовано в: J Lipid Res (2018)

Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France

по Wintjens, René, Bozon, Dominique, Belabbas, Khaldia, MBou, Félicien, Girardet, Jean-Philippe, Tounian, Patrick, Jolly, Mathilde, Boccara, Franck, Cohen, Ariel, Karsenty, Alexandra, Dubern, Béatrice, Carel, Jean-Claude, Azar-Kolakez, Ahlam, Feillet, François, Labarthe, François, Gorsky, Anne-Marie Colin, Horovitz, Alice, Tamarindi, Catherine, Kieffer, Pierre, Lienhardt, Anne, Lascols, Olivier, Di Filippo, Mathilde, Dufernez, Fabienne
Опубликовано в: J Lipid Res (2016)