Resultats de la cerca - Di-Filippo, Mathilde
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1
An APOA5 3′ UTR Variant Associated with Plasma Triglycerides Triggers APOA5 Downregulation by Creating a Functional miR-485-5p Binding Site per Caussy, Cyrielle, Charrière, Sybil, Marçais, Christophe, Di Filippo, Mathilde, Sassolas, Agnès, Delay, Mireille, Euthine, Vanessa, Jalabert, Audrey, Lefai, Etienne, Rome, Sophie, Moulin, Philippe
Publicat 2014Text -
2
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... per Cuerq, Charlotte, Restier, Lioara, Drai, Jocelyne, Blond, Emilie, Roux, Adeline, Charriere, Sybil, Michalski, Marie-Caroline, Di Filippo, Mathilde, Levy, Emile, Lachaux, Alain, Peretti, Noël
Publicat 2016Text -
3
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia per 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
Publicat 2012Text -
4
Post-Heparin LPL Activity Measurement Using VLDL As a Substrate: A New Robust Method for Routine Assessment of Plasma Triglyceride Lipolysis Defects per 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
Publicat 2014Text -
5
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France per 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
Publicat 2010Text -
6
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants per 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
Publicat 2022Text -
7
Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia? per 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
Publicat 2018Text -
8
Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease per 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
Publicat 2018Text -
9
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia per 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
Publicat 2022Text -
10
Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France per 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
Publicat 2016Text -
11
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia per 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
Publicat 2022Text