检索结果 - Jean‐Pierre Rabès

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  1. 1
    APOE gene variants in primary dyslipidemia

    APOE gene variants in primary dyslipidemia 由 Yara Abou Khalil, Jean‐Pierre Rabès, Cathérine Boileau, Mathilde Varret

    出版 2021
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  2. 2
    Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (<i>PCSK9</i>) gene in cholesterol metabolism and disease

    Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (<i>PCSK9</i>) gene in cholesterol metabolism and disease 由 Marianne Abifadel, Jean‐Pierre Rabès, Martine Devillers, Arnold Münnich, D. Erlich, Claudine Junien, Mathilde Varret, Cathérine Boileau

    出版 2009
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  3. 3
    Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

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

    出版 2021
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  4. 4
    The UMD-LDLR database: additions to the software and 490 new entries to the database

    The UMD-LDLR database: additions to the software and 490 new entries to the database 由 Ludovic Villéger, Marianne Abifadel, Delphine Allard, Jean‐Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Christophe Béroud, Claudine Junien, Cathérine Boileau, Mathilde Varret

    出版 2002
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  5. 5
    Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia

    Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia 由 Mathilde Di Filippo, Hervé Crehalet, Marie Elisabeth Samson-Bouma, Véronique Bonnet, Lawrence P. Aggerbeck, Jean‐Pierre Rabès, Frédèric Gottrand, Gérald Luc, Dominique Bozon, Agnès Sassolas

    出版 2012
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  6. 6
    Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France

    Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France 由 Marie Marduel, Alain Carrié, Agnès Sassolas, Martine Devillers, Valérie Carreau, Mathilde Di Filippo, D. Erlich, Marianne Abifadel, Alice Marques-Pinheiro, Arnold Münnich, Claudine Junien, Cathérine Boileau, Mathilde Varret, Jean‐Pierre Rabès

    出版 2010
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  7. 7
    Novel mutations of thePCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

    Novel mutations of thePCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia 由 Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean‐Philippe Girardet, A. Fredenrich, Claudine Junien, Mathilde Varret, Cathérine Boileau, Pascale Benlian, Jean‐Pierre Rabès

    出版 2005
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  8. 8
    Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

    Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease) 由 Amandine Georges, Jessica Bonneau, Dominique Bonnefont–Rousselot, J. Champigneulle, Jean‐Pierre Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Éric Bruckert, Cathérine Boileau, A. Morali, Mathilde Varret, Lawrence P. Aggerbeck, Marie Elisabeth Samson-Bouma

    出版 2011
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  9. 9
    LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

    LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis 由 Mathilde Varret, Jean‐Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Heike Baron, Ana Cenarro, Olivier Descamps, Margit Ebhardt, Jean-Claude Hondelijn, Gert M. Kostner, Yasuko Miyake, Miguel Pocovı́, Hartmut Schmidt, Helena Schmidt, Herbert Schuster, Manfred Stuhrmann, Taku Yamamura, Claudine Junien, Christophe Béroud, Cathérine Boileau

    出版 1998
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  10. 10
    A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32

    A Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1-p32 由 Mathilde Varret, Jean‐Pierre Rabès, Bruno Saint-Jore, Ana Cenarro, Jean‐Christophe Marinoni, Fernando Civeira, Martine Devillers, Michel Krempf, M Coulon, Rochelle Thiart, Maritha J. Kotze, Helena Schmidt, Jean‐Claude Buzzi, Gert M. Kostner, Stephano Bertolini, Miguel Pocovı́, Alberto L. Rosa, Michel Farnier, María Martínez, Claudine Junien, Cathérine Boileau

    出版 1999
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  11. 11
    High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry

    High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry 由 Sophie Béliard, Franck Boccara, Bertrand Cariou, Alain Carrié, Xavier Collet, Michel Farnier, Jean Ferrières, Michael Krempf, Noël Peretti, Jean‐Pierre Rabès, Mathilde Varret, Alexandre Vimont, Sybil Charrière, Éric Bruckert, Denis Angoulvant, Sophie Béliard, Pascale Benlian, Cathérine Boileau, Franck Boccara, Éric Bruckert, Bertrand Cariou, Valérie Carreau, Alain Carrié, Sybil Charrière, Mathilde Di Filippo, P.H. Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Émile Ferrari, Jean Ferrières, Antonio Gallo, J.-P. Girardet, R. Hankard, Michel Krempf, Jean‐Daniel Lalau, Bruno Lefort, Julie Lemale, Philippe Moulin, François Paillard, Noël Peretti, A. Pradignac, Yann Pucheu, Jean‐Pierre Rabès, Samir Saheb, Ariane Sultan, Patrick Tounian, René Valero, Mathilde Varret, Bruno Vergès, Cécile Yelnik, Olivier Ziegler

    出版 2018
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  12. 12
    Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the<i>APOE</i>p.Leu167del Mutation

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

    出版 2012
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  13. 13
    SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia

    SAFEHEART risk-equation and cholesterol-year-score are powerful predictors of cardiovascular events in French patients with familial hypercholesterolemia 由 Antonio Gallo, Sybil Charriere, Alexandre Vimont, M. John Chapman, Denis Angoulvant, Franck Boccara, Bertrand Cariou, Valérie Carreau, Alain Carrié, Éric Bruckert, Sophie Béliard, Denis Angoulvant, Sophie Béliard, Franck Boccara, Éric Bruckert, Bertrand Cariou, Valérie Carreau, Alain Carrié, Sybil Charriere, Yves Cottin, Mathilde Di Filippo, Sonia Dulong, Vincent Durlach, Michel Farnier, Émile Ferrari, Dorota Ferrieres, Jean Ferrieres, Antonio Gallo, Philippe Giral, Sophie Gonbert, R. Hankard, Jocelyn Inamo, Olga Kalmykova, Michel Krempf, Philippe Moulin, François Paillard, Noël Peretti, Agnès Perrin‐Guyomard, Jean‐Pierre Rabès, Ariane Sultan, Patrick Tounian, René Valero, Bruno Vergès, Cecile Yelnik, Olivier Ziegler

    出版 2020
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  14. 14
    Characterization of Autosomal Dominant Hypercholesterolemia Caused by <i>PCSK9</i> Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

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

    出版 2015
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  15. 15
    Exome Sequencing in Suspected Monogenic Dyslipidemias

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

    出版 2015
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  16. 16
    The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia

    The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia 由 Antonio Gallo, Leopoldo Pérez de Isla, Sybil Charrière, Alexandre Vimont, Rodrigo Alonso, Ovidio Muñiz-Grijalvo, José Luis Díaz-Díaz, Daniel Zambón, Philippe Moulin, Éric Bruckert, Pedro Mata, Sophie Béliard, Denis Angoulvant, Sophie Béliard, Franck Boccara, Eric Bruckert, Bertrand Cariou, Valérie Carreau, Alain Carrié, Sybil Charrieres, Yves Cottin, Mathilde Di Filippo, Pierre Henri Ducluzeau, Sonia Dulong, Vincent Durlach, Michel Farnier, Emile Ferrari, Dorota Ferrieres, Jean Ferrieres, Antonio Gallo, Philippe Giral, Sophie Gonbert, R. Hankard, Jocelyn Inamo, Olga Kalmykova, Michel Krempf, Julie Lemale, Philippe Moulin, François Paillard, Noël Peretti, Agnès Perrin‐Guyomard, A. Pradignac, Jean‐Pierre Rabès, Vincent Rigalleau, François Schiele, Ariane Sultan, Patrick Tounian, René Valero, Bruno Vergès, Cecile Yelnik, Olivier Ziegler, Rocío Aguado, Rodrigo Alonso, Ma Pilar Álvarez-Baños, Rosa Argüeso, Francisco Arrieta, Miguel Ángel Elvira Barba, Marta Casañas, José María Cepeda, Raimundo de Andrés, Gonzalo Díaz-Soto, José Luis Díaz-Díaz, Marta Diéguez, Ceferino Martínez‐Faedo, Francisco Fuentes, Juan Antonio Garrido, A Rodríguez González, Pablo González‐Bustos, Ma Dolores Mañas, Pedro Mata, Marta Mauri, Juan Diego Mediavilla, Alfredo Michán, Pablo Miramontes, Ovidio Muñiz-Grijalvo, Leire Pérez, Leopoldo Pérez de Isla, Xavier Pintó, Manuel Romero, Patricia Rubio, Juan Francisco Sánchez Muñoz-Torrero, José I. Vidal-Pardo, Daniel Zambón

    出版 2021
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