Resultats de la cerca - Rabès, Jean-Pierre

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... per OGOUMA-AWORET, Ludmilla, RABES, Jean-Pierre, de MAZANCOURT, Philippe

Obtenir text complet Obtenir text complet Obtenir text complet

Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis per Abifadel, Marianne S., Rabès, Jean-Pierre H., Boileau, Catherine R.

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia per 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

Obtenir text complet Obtenir text complet Obtenir text complet

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 per Marques-Pinheiro, Alice, Marduel, Marie, Rabès, Jean-Pierre, Devillers, Martine, Villéger, Ludovic, Allard, Delphine, Weissenbach, Jean, Guerin, Maryse, Zair, Yassine, Erlich, Danièle, Junien, Claudine, Munnich, Arnold, Krempf, Michel, Abifadel, Marianne, Jaïs, Jean-Philippe, Boileau, Catherine, Varret, Mathilde

Obtenir text complet Obtenir text complet Obtenir text complet

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families per Ayoub, Carine, Azar, Yara, Abou-Khalil, Yara, Ghaleb, Youmna, Elbitar, Sandy, Halaby, Georges, Jambart, Selim, Gannagé-Yared, Marie-Hélène, Yaghi, Cesar, Saade Riachy, Carole, El Khoury, Ralph, Rabès, Jean-Pierre, Varret, Mathilde, Boileau, Catherine, El Khoury, Petra, Abifadel, Marianne

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation per Marduel, Marie, Ouguerram, Khadija, Serre, Valérie, Bonnefont-Rousselot, Dominique, Marques-Pinheiro, Alice, Berge, Knut Erik, 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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody per Hopkins, Paul N., Defesche, Joep, Fouchier, Sigrid W., Bruckert, Eric, Luc, Gérald, Cariou, Bertrand, Sjouke, Barbara, Leren, Trond P., Harada-Shiba, Mariko, Mabuchi, Hiroshi, Rabès, Jean-Pierre, Carrié, Alain, van Heyningen, Charles, Carreau, Valérie, Farnier, Michel, Teoh, Yee P., Bourbon, Mafalda, Kawashiri, Masa-aki, Nohara, Atsushi, Soran, Handrean, Marais, A. David, Tada, Hayato, Abifadel, Marianne, Boileau, Catherine, Chanu, Bernard, Katsuda, Shoji, Kishimoto, Ichiro, Lambert, Gilles, Makino, Hisashi, Miyamoto, Yoshihiro, Pichelin, Matthieu, Yagi, Kunimasa, Yamagishi, Masakazu, Zair, Yassine, Mellis, Scott, Yancopoulos, George D., Stahl, Neil, Mendoza, Johanna, Du, Yunling, Hamon, Sara, Krempf, Michel, Swergold, Gary D.

Obtenir text complet Obtenir text complet Obtenir text complet

Exome Sequencing in Suspected Monogenic Dyslipidemias per Stitziel, Nathan O., Peloso, Gina M., Abifadel, Marianne, Cefalu, Angelo B., Fouchier, Sigrid, Motazacker, M. Mahdi, Tada, Hayato, Larach, Daniel B., Awan, Zuhier, Haller, Jorge F., Pullinger, Clive R., Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A., Wilson, James G., Rich, Stephen S., Gupta, Namrata, Farlow, Deborah N., Neale, Benjamin M., Daly, Mark J., Kane, John P., Freeman, Mason W., Genest, Jacques, Rader, Daniel J., Mabuchi, Hiroshi, Kastelein, John J.P., Hovingh, G. Kees, Averna, Maurizio R., Gabriel, Stacey, Boileau, Catherine, Kathiresan, Sekar

Obtenir text complet Obtenir text complet Obtenir text complet