检索结果 - Christine Muti

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  1. 1
    Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

    Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation 由 Étienne Mornet, A. Taillandier, Christelle Domingues, Annika Dufour, Emmanuelle Benaloun, Nicole Lavaud, Fabienne Wallon, Nathalie Rousseau, Carole Charle, Mihelaiti Guberto, Christine Muti, Brigitte Simon‐Bouy

    出版 2020
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  2. 2
    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene 由 Chantal Stheneur, Gwenaëlle Collod‐Béroud, Laurence Faivre, Jean François Buyck, Laurent Gouya, Jean‐Marie Le Parc, Bertrand Moura, Christine Muti, Bernard Grandchamp, G. Sultan, Mireille Claustres, Philippe Aegerter, Bertrand Chevallier, Guillaume Jondeau, Cathérine Boileau

    出版 2009
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  3. 3
    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition 由 Mélodie Aubart, Delphine Gobert, F. Aubart-Cohen, Delphine Détaint, Nadine Hanna, d’Indya Hyacintha, Lequintrec Janine-Sophie, P Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean‐Pierre Laissy, Pierre Koch, Christine Muti, J. Roume, Véronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric Leguern, T. Papo, Cathérine Boileau, Guillaume Jondeau

    出版 2014
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  4. 4
    Identification of 23<i>TGFBR2</i>and 6<i>TGFBR1</i>gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

    Identification of 23<i>TGFBR2</i>and 6<i>TGFBR1</i>gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and... 由 Chantal Stheneur, Gwenaëlle Collod‐Béroud, Laurence Faivre, Laurent Gouya, G. Sultan, Jean‐Marie Le Parc, Bertrand Moura, David Attias, Christine Muti, M. Sznajder, Mireille Claustres, Claudine Junien, Clarisse Baumann, Valérie Cormier‐Daire, Marlène Rio, Stanislas Lyonnet, Henri Plauchu, Didier Lacombe, Bertrand Chevallier, Guillaume Jondeau, Cathérine Boileau

    出版 2008
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  5. 5
    Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

    Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study 由 Matthieu Egloff, Bérenice Herve, T. Quibel, Sylvie Jaillard, G. Le Bouar, Kévin Uguen, A.‐H. Saliou, Mylène Valduga, E. Perdriolle, Charles Coutton, Anne-Laure Coston, Aurélie Coussement, Olivia Anselem, Chantal Missirian, Florence Bretelle, Fabienne Prieur, C. Fanget, Christine Muti, M.‐C. Jacquemot, Claire Bénéteau, Claudine Le Vaillant, Michel Vekemans, Laurent Salomon, François Vialard, Valérie Malan

    出版 2017
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  6. 6
    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing 由 A. Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet‐Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat, Françoise Debiais, Yline Capri, Martine Cohen‐Solal, P. Parent, Jean Chiésa, Anne Dieux, Florence Petit, J. Roume, Monica Isnard, Valérie Cormier‐Daire, Agnès Linglart, José Luís Millán, Jean‐Pierre Salles, Christine Muti, Brigitte Simon‐Bouy, Étienne Mornet

    出版 2015
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  7. 7
    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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  8. 8
    Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

    Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study 由 Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys, Anne H. Child, Christine Binquet, Élodie Gautier, Bert Callewaert, Eloisa Arbustini, Karin Mayer, Mine Arslan‐Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Nicola Marziliano, Harry C. Dietz, Dorothy Halliday, Christophe Béroud, Claire Bonithon‐Kopp, Mireille Claustres, Christine Muti, Henri Plauchu, Peter N. Robinson, Lesley C. Adès, Andrew Biggin, B. Benetts, Maggie Brett, Katherine Holman, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Guillaume Jondeau, Cathérine Boileau

    出版 2007
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