Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy von Marmontel, O., Charrière, S., Simonet, T., Bonnet, V., Dumont, S., Mahl, M., Jacobs, C., Nony, S., Chabane, K., Bozon, D., Janin, A., Peretti, N., Lachaux, A., Bardel, C., Millat, G., Moulin, P., Marçais, C., Di Filippo, M.

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Régulation du gène de la LPL par les miRNA : interaction du miR-29 avec des polymorphismes de la région 3′UTR étroitement associés à la triglycéridémie von Caussy, C, Charrière, S, Di Filippo, M, Lefai, E, Euthine, V, Delay, M, Rome, S, Moulin, P, Marçais, C

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A TG-associated minor LPL haplotype supresses miR-29 binding on LPL 3'UTR von Caussy, C, Charrière, S, Dallongeville, J, Lefai, E, Euthine, V, Delay, M, Meirhaeghe, A, Di Filippo, M, Rome, S, Moulin, P, Marçais, C

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Modulation of phenotypic expression of APOA5 Q97X and L242P mutations von Charrière, S, Cugnet, C, Guitard, M, Bernard, S, Groisne, L, Charcosset, M, Pruneta-Deloche, V, Merlin, M, Billon, S, Delay, M, Sassolas, A, Moulin, P, Marçais, C

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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and... von Millat, Gilles, Marçais, Christophe, Tomasetto, Catherine, Chikh, Karim, Fensom, Anthony H., Harzer, Klaus, Wenger, David A., Ohno, K., Vanier, Marie T.

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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an “FCS score” von Moulin, Philippe, Dufour, Robert, Averna, Maurizio, Arca, Marcello, Cefalù, Angelo B., Noto, Davide, D'Erasmo, Laura, Di Costanzo, Alessia, Marçais, Christophe, Alvarez-Sala Walther, Luis Antonio, Banach, Maciej, Borén, Jan, Cramb, Robert, Gouni-Berthold, Ioanna, Hughes, Elizabeth, Johnson, Colin, Pintó, Xavier, Reiner, Željko, van Lennep, Jeanine Roeters, Soran, Handrean, Stefanutti, Claudia, Stroes, Erik, Bruckert, Eric

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CO-77: L'effet hypertriglycéridémiant du variant 3'UTR Sst1 de l'APOC3 n'est pas médié par une régulation impliquant un microARN hépatique ou intestinal von Charriere, S, Dancer, M, Caussy, C, Marcais, C, Moulin, P

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Niemann-Pick C1 Disease: The I1061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype von Millat, Gilles, Marçais, Christophe, Rafi, Mohammad A., Yamamoto, Toshiyuki, Morris, Jill A., Pentchev, Peter G., Ohno, Kousaku, Wenger, David A., Vanier, Marie T.

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Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment von Marçais, Christophe, Verges, Bruno, Charrière, Sybil, Pruneta, Valérie, Merlin, Micheline, Billon, Stéphane, Perrot, Laurence, Drai, Jocelyne, Sassolas, Agnès, Pennacchio, Len A, Fruchart-Najib, Jamila, Fruchart, Jean-Charles, Durlach, Vincent, Moulin, Philippe

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Genetic heterogeneity of hepatocellular carcinoma von Unsal, H, Yakicier, C, Marcais, C, Kew, M, Volkman, M, Zentgraf, H, Isselbacher, K.J, Ozturk, M

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Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon von Pittis, M.G., Ricci, V., Guerci, V. I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M.T., Filocamo, M., Bembi, B.

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Quand demander un bilan génétique devant une hypertriglycéridémie ? von Villard, A., Charrière, S., Di-Filippo, M., Marçais, C., Moulin, P.

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P1029 Influence du diabète de type 2 chez les patients dysbétalipoprotéinémiques von Garon, A, Moulin, P, Charriere, S, Di Filippo, M, Sassolas, A, Marcais, C

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Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency von MARCAIS, C, BERNARD, S, MERLIN, M, ULHMANN, M, MESTRE, B, ROCHET-MINGRET, L, REVOL, A, BERTHEZENE, F, MOULIN, P

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The hypertriglyceridemic effect of APOC3 3'UTR variant SSt1 is not mediated by a hepatic or intestinal miRNA regulation von Dancer, M, Marcais, C, Caussy, C, Di filippo, M, Moulin, P, Charrière, S

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Systematic assay of lipoprotein lipase activity and mass in cohort of patients with history of type V hyperlipidemia von Marmontel, O, di Filippo, M, Nony, S, Marcais, C, Caussy, C, Charriere, S, Sassolas, A, Moulin, P

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Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy von Marmontel, O., Charrière, S., Simonet, T., Bonnet, V., Dumont, S., Mahl, M., Jacobs, C., Nony, S., Chabane, K., Bozon, D., Janin, A., Peretti, N., Lachaux, A., Bardel, Claire, Millat, G., Moulin, P., Marçais, C., Di Filippo, M.

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PO33 - Identification de deux nouvelles mutations de GPIHBP1 responsables d’une hyperchylomicronémie majeure von Charriere, S, Peretti, N, Bernard, S, Charcosset, M, Sassolas, A, Lachaux, A, Moulin, P, Marcais, C

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Variability of phenotypic expression in patients carriers of APOE gene mutations von Marmontel, O, di Filippo, M, Galland, M, Dumoux, M, Marcais, C, Villard, A, Charriere, S, Moulin, P, Sassolas, A

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Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FCS clinical diagnostic score von Moulin, Philippe, Dufour, Robert, Averna, Maurizio, Arca, Marcello, Cefalù, Angelo B., Noto, Davide, D’Erasmo, Laura, Di Costanzo, Alessia, Marçais, Christophe, Walther, Luis Antonio Alvarez-Sala, Banach, Maciej, Borén, Jan, Cramb, Robert, Gouni-Berthold, Ioanna, Hughes, Elizabeth, Johnson, Colin, Pintó, Xavier, Reiner, Željko, van Lennep, Jeanine Roeters, Soran, Handrean, Stefanutti, Claudia, Stroes, Erik, Bruckert, Eric

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