Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease von Germain, Dominique P., Levade, Thierry, Hachulla, Eric, Knebelmann, Bertrand, Lacombe, Didier, Seguin, Vanessa Leguy, Nguyen, Karine, Noël, Esther, Rabès, Jean‐Pierre

Volltext

APOE gene variants in primary dyslipidemia von Khalil, Yara Abou, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde

Volltext

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease von Abifadel, Marianne, Rabès, Jean-Pierre, Devillers, Martine, Munnich, Arnold, Erlich, Danièle, Junien, Claudine, Varret, Mathilde, Boileau, Catherine

Volltext

Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk von Séguro, Florent, Rabès, Jean‐Pierre, Taraszkiewicz, Dorota, Ruidavets, Jean‐Bernard, Bongard, Vanina, Ferrières, Jean

Volltext

Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia von Marmontel, Oriane, Abou-Khalil, Yara, Bluteau, Olivier, Cariou, Bertrand, Carreau, Valérie, Charrière, Sybil, Divry, Eléonore, Gallo, Antonio, Moulin, Philippe, Paillard, François, Peretti, Noel, Rabès, Jean-Pierre, Varret, Mathilde, Carrié, Alain, Di Filippo, Mathilde

Volltext

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia von 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

Volltext

Familial hypercholesterolemia: experience from France von Rabès, Jean-Pierre, Béliard, Sophie, Carrié, Alain

Volltext

A Simple RFLP-Based Method for HFE Gene Multiplex Amplification and Determination of Hereditary Hemochromatosis-Causing Mutation C282Y and H63D Variant with Highly Sensitive Determ... von OGOUMA-AWORET, Ludmilla, de MAZANCOURT, Philippe, RABES, Jean-Pierre

Volltext

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia von Moulin, Philippe, Wickham, Louise, Bruckert, Eric, Lecerf, Jean-Michel, Krempf, Michel, Varret, Mathilde, Chambaz, Jean, Allard, Delphine, Derré, Aurélie, Rabès, Jean-Pierre, Villéger, Ludovic, Junien, Claudine, Erlich, Danièle, Beucler, Isabel, Cruaud, Corinne, Benjannet, Suzanne, Farnier, Michel, Ouguerram, Khadija, Devillers, Martine, Boileau, Catherine, Luc, Gerald, Weissenbach, Jean, Abifadel, Marianne, Prat, Annick, Chanu, Bernard, Seidah, Nabil G

Volltext

C57BL/6J and A/J Mice Fed a High-Fat Diet Delineate Components of Metabolic Syndrome von Gallou‐Kabani, Catherine, Vigé, Alexandre, Gross, Marie‐Sylvie, Rabès, Jean‐Pierre, Boileau, Catherine, Larue‐Achagiotis, Christiane, Tomé, Daniel, Jais, Jean‐Philippe, Junien, Claudine

Volltext

Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation von Marduel, Marie, Ouguerram, Khadija, Serre, Valérie, Bonnefont-Rousselot, Dominique, Marques-Pinheiro, Alice, Erik Berge, Knut, Devillers, Martine, Luc, Gérald, Lecerf, Jean-Michel, Tosolini, Laurent, Erlich, Danièle, Peloso, Gina M., Stitziel, Nathan, Nitchké, Patrick, Jaïs, Jean-Philippe, Abifadel, Marianne, Kathiresan, Sekar, Leren, Trond Paul, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde

Volltext

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France von 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

Volltext

Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs von Abifadel, Marianne, Elbitar, Sandy, El Khoury, Petra, Ghaleb, Youmna, Chémaly, Mélody, Moussalli, Marie-Line, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine

Volltext

Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome von Zanoni, Paolo, Panteloglou, Grigorios, Othman, Alaa, Haas, Joel T., Meier, Roger, Rimbert, Antoine, Futema, Marta, Abou Khalil, Yara, Norrelykke, Simon F., Rzepiela, Andrzej J., Stoma, Szymon, Stebler, Michael, van Dijk, Freerk, Wijers, Melinde, Wolters, Justina C., Dalila, Nawar, Huijkman, Nicolette C. A., Smit, Marieke, Gallo, Antonio, Carreau, Valérie, Philippi, Anne, Rabès, Jean-Pierre, Boileau, Catherine, Visentin, Michele, Vonghia, Luisa, Weyler, Jonas, Francque, Sven, Verrijken, An, Verhaegen, Ann, Van Gaal, Luc, van der Graaf, Adriaan, van Rosmalen, Belle V., Robert, Jerome, Velagapudi, Srividya, Yalcinkaya, Mustafa, Keel, Michaela, Radosavljevic, Silvija, Geier, Andreas, Tybjaerg-Hansen, Anne, Varret, Mathilde, Rohrer, Lucia, Humphries, Steve E., Staels, Bart, van de Sluis, Bart, Kuivenhoven, Jan Albert, von Eckardstein, Arnold

Volltext

Real-World Efficacy of Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors (PCSK9i) in Heterozygous Familial Hypercholesterolemia Patients Referred for Lipoprotein Apheresis von Matta, Anthony, Bongard, Vanina, Bouisset, Frédéric, Taraszkiewicz, Dorota, Rabès, Jean-Pierre, Ferrières, Jean

Volltext

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia von Abifadel, Marianne, Guerin, Maryse, Benjannet, Suzanne, Rabès, Jean-Pierre, Le Goff, Wilfried, Julia, Zélie, Hamelin, Josée, Carreau, Valérie, Varret, Mathilde, Bruckert, Eric, Tosolini, Laurent, Meilhac, Olivier, Couvert, Philippe, Bonnefont-Rousselot, Dominique, Chapman, John, Carrié, Alain, Michel, Jean-Baptiste, Prat, Annik, Seidah, Nabil G, Boileau, Catherine

Volltext

Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort von Peretti, Noel, Vimont, Alexandre, Mas, Emmanuel, Lemale, Julie, Reynaud, Rachel, Tounian, Patrick, Poinsot, Pierre, Restier, Liora, Paillard, François, Pradignac, Alain, Pucheu, Yann, Rabès, Jean-Pierre, Bruckert, Eric, Gallo, Antonio, Béliard, Sophie

Volltext

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia von Elbitar, Sandy, Susan-Resiga, Delia, Ghaleb, Youmna, El Khoury, Petra, Peloso, Gina, Stitziel, Nathan, Rabès, Jean-Pierre, Carreau, Valérie, Hamelin, Josée, Ben-Djoudi-Ouadda, Ali, Bruckert, Eric, Boileau, Catherine, Seidah, Nabil G., Varret, Mathilde, Abifadel, Marianne

Volltext

Prevalence of familial hypercholesterolaemia in patients presenting with premature acute coronary syndrome von Hauguel-Moreau, Marie, Aïdan, Vincent, Hergault, Hélène, Beauchet, Alain, Pépin, Marion, Prati, Giulio, Pillière, Rémy, Ouadahi, Mounir, Josseran, Loïc, Rodon, Christophe, Rabès, Jean-Pierre, Charron, Philippe, Dubourg, Olivier, Massy, Ziad, Mansencal, Nicolas

Volltext

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia von AMSELLEM, Sabine, BRIFFAUT, Dorothée, DE GENNES, Jean Luc, BRUKERT, Eric, BENLIAN, Pascale, CARRIE, Alain, RABES, Jean Pierre, GIRARDET, Jean Philippe, FREDENRICH, Alexandre, MOULIN, Philippe, KREMPF, Michel, REZNIK, Yves, VIALETTES, Bernard

Volltext