檢索結果 - Mathilde Varret

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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
    Apolipoprotein B100 Metabolism in Autosomal-Dominant Hypercholesterolemia Related to Mutations in<i>PCSK9</i>

    Apolipoprotein B100 Metabolism in Autosomal-Dominant Hypercholesterolemia Related to Mutations in<i>PCSK9</i> 由 Khadija Ouguerram, Maud Chétiveaux, Yassine Zaïr, Philippe Costet, Marianne Abifadel, Mathilde Varret, Cathérine Boileau, T. Magot, Michel Krempf

    出版 2004
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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 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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  6. 6
    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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  7. 7
    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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  8. 8
    NARC-1/PCSK9 and Its Natural Mutants

    NARC-1/PCSK9 and Its Natural Mutants 由 Suzanne Benjannet, David Rhainds, Rachid Essalmani, Janice Mayne, L. Alexandra Wickham, Weijun Jin, Marie‐Claude Asselin, Josée Hamelin, Mathilde Varret, Delphine Allard, Mélanie Trillard, Marianne Abifadel, Angie Tebon, Alan Attie, Daniel J. Rader, Cathérine Boileau, Louise Brissette, Michel Chrètien, Annik Prat, Nabil G. Seidah

    出版 2004
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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
    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

    MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections 由 Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong Guo, Laurent Tosolini, Benoît Ho‐Tin‐Noé, Ellen S. Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis‐Girod, Laurence Faivre, Thomas Édouard, Yves Dulac, Tiffany Busa, Laurent Gouya, Dianna M. Milewicz, Guillaume Jondeau, Cathérine Boileau

    出版 2014
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  12. 12
    Heterozygous TGFBR2 mutations in Marfan syndrome

    Heterozygous TGFBR2 mutations in Marfan syndrome 由 Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, Takayuki Morisaki, Delphine Allard, Mathilde Varret, Mireille Claustres, Hiroko Morisaki, Makoto Ihara, Akira Kinoshita, Koh-ichiro Yoshiura, Claudine Junien, Tadashi Kajii, Guillaume Jondeau, Tohru Ohta, Tatsuya Kishino, Yoichi Furukawa, Yusuke Nakamura, Norio Niikawa, Cathérine Boileau, Naomichi Matsumoto

    出版 2004
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  13. 13
    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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  14. 14
    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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  15. 15
    TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

    TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome 由 Cathérine Boileau, Dong Guo, Nadine Hanna, Ellen S. Regalado, Delphine Détaint, Limin Gong, Mathilde Varret, Siddharth K. Prakash, Alexander Li, Hyacintha d’Indy, Alan C. Braverman, Bernard Grandchamp, Callie Kwartler, Laurent Gouya, Regie Lyn P. Santos‐Cortez, Marianne Abifadel, Suzanne M. Leal, Christine Muti, Jay Shendure, Marie Sylvie Gross, Mark J. Rieder, Alec Vahanian, Deborah A. Nickerson, Jean Baptiste Michel, Guillaume Jondeau, Dianna M. Milewicz

    出版 2012
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  16. 16
    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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