תוצאות חיפוש - 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... מאת OGOUMA-AWORET, Ludmilla, RABES, Jean-Pierre, de MAZANCOURT, Philippe

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

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

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

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

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

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Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France מאת 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

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

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

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A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1 מאת 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

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Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families מאת 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

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APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia מאת 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

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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation מאת 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

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Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia מאת 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

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody מאת 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.

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Exome Sequencing in Suspected Monogenic Dyslipidemias מאת 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

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