検索結果 - Isabelle Touitou

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  1. 1
    The spectrum of Familial Mediterranean Fever (FMF) mutations

    The spectrum of Familial Mediterranean Fever (FMF) mutations 著者: Isabelle Touitou

    出版事項 2001
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  2. 2
    Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature

    Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature 著者: Isabelle Touitou

    出版事項 2013
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  3. 3
    The significance of carrying <i>MEFV</i> variants in symptomatic and asymptomatic individuals

    The significance of carrying <i>MEFV</i> variants in symptomatic and asymptomatic individuals 著者: Eldad Ben‐Chetrit, Isabelle Touitou

    出版事項 2024
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  4. 4
    Autoinflammatory gene mutations in Behcet's disease

    Autoinflammatory gene mutations in Behcet's disease 著者: Isabelle Koné‐Paut, Elodie Sanchez, A. Le Quellec, Raffaele Manna, Isabelle Touitou

    出版事項 2007
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  5. 5
    Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies

    Mutation Update for<i>COL2A1</i>Gene Variants Associated with Type II Collagenopathies 著者: Mouna Barat‐Houari, Guillaume Sarrabay, Vincent Gâtinois, Aurélie Fabre, Bruno Dumont, David Geneviève, Isabelle Touitou

    出版事項 2015
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  6. 6
    The clinical spectrum of 94 patients carrying a single mutated MEFV allele

    The clinical spectrum of 94 patients carrying a single mutated MEFV allele 著者: Isabelle Koné-Paut, V. Hentgen, S. Guillaume-Czitrom, Sandrine Compeyrot‐Lacassagne, Tú-Anh Tran, Isabelle Touitou

    出版事項 2009
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  7. 7
    The MICA region determines the first modifier locus in familial Mediterranean fever

    The MICA region determines the first modifier locus in familial Mediterranean fever 著者: Isabelle Touitou, Marie‐Christine Picot, C�cile Domingo, Cécile Notarnicola, D Cattan, Jacques Demaille, Isabelle Kon�-Paut

    出版事項 2001
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  8. 8
    A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients

    A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients 著者: L. Fédérici, C Rittore-Domingo, Isabelle Kone-Paut, Christian Jørgensen, M. Rodière, A. Le Quellec, Isabelle Touitou

    出版事項 2006
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  9. 9
    Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study

    Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study 著者: Eldad Ben‐Chetrit, Marco Gattorno, Ahmet Gül, Daniel L. Kastner, Helen J. Lachmann, Isabelle Touitou, Nicolino Ruperto

    出版事項 2018
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  10. 10
    Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey

    Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey 著者: Linda Rossi‐Semerano, Bruno Fautrel, Daniel Wendling, É. Hachulla, Caroline Galeotti, Luca Semerano, Isabelle Touitou, Isabelle Koné‐Paut

    出版事項 2015
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  11. 11
    Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis

    Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis 著者: Isabelle Duroux-Richard, Yves‐Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jørgensen, Florence Apparailly

    出版事項 2014
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  12. 12
    Familial Mediterranean fever is no longer a rare disease in Italy

    Familial Mediterranean fever is no longer a rare disease in Italy 著者: Micaela La Regina, Gabriella Nucera, M. Diaco, Antonio Domenico Procopio, Antonio Gasbarrini, Cécile Notarnicola, Isabelle Koné‐Paut, Isabelle Touitou, Raffaele Manna

    出版事項 2003
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  13. 13
    ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

    ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters 著者: Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier

    出版事項 2016
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  14. 14
    Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)

    Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) 著者: Marie Dewalle, Cécile Domingo, M Rozenbaum, Eldad Ben‐Chetrit, D Cattan, Alain Bernot, Christiane Dross, Madeleine Dupont, Cécile Notarnicola, Micha Levy, Itzhak Rosner, Jacques Demaille, Isabelle Touitou

    出版事項 1998
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  15. 15
    The infevers autoinflammatory mutation online registry: update with new genes and functions

    The infevers autoinflammatory mutation online registry: update with new genes and functions 著者: Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El‐Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans R. Waterham, Carol A. Wise, Cyril Sarrauste de Menthière, Isabelle Touitou

    出版事項 2008
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  16. 16
    Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

    Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 著者: Ramesh Reddy, Elie Akoury, Ngoc Minh Nguyen, Omar Abdul‐Rahman, Christine Déry, Neerja Gupta, William P. Daley, Asangla Ao, Hanène Landolsi, Rosemary A. Fisher, Isabelle Touitou, Rima Slim

    出版事項 2012
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  17. 17
    MEFV mutations in Beh�et's disease

    MEFV mutations in Beh�et's disease 著者: Isabelle Touitou, Xavier Magne, Nicolas Molinari, Andr� Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Özen, Ayşı̇n Bakkaloğlu, Ayşen Karaduman, J.M. Garnier, Jacques Demaille, Isabelle Kon�-Paut

    出版事項 2000
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  18. 18
    International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients

    International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients 著者: Michaël Hofer, Pascal Pillet, M. Cochard, Stefan Berg, Petra Król, Isabelle Koné‐Paut, Donato Rigante, Véronique Hentgen, Jordi Antón, R Brik, B. Neven, Isabelle Touitou, D. Kaiser, Alyette Duquesne, Carine Wouters, Marco Gattorno

    出版事項 2014
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  19. 19
    New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

    New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (I... 著者: Marielle E van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C. Carbo, Mariska Slofstra, Juan I. Aróstegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balcı‐Peynircioğlu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou

    出版事項 2018
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  20. 20
    Infevers: An evolving mutation database for auto-inflammatory syndromes

    Infevers: An evolving mutation database for auto-inflammatory syndromes 著者: Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal M. Hoffman, Catherine Dodé, Nitza G. Shoham, Ebun Aganna, Jean‐Pierre Hugot, Carol A. Wise, Hans R. Waterham, D. Pugnére, Jacques Demaille, Cyril Sarrauste de Menthière

    出版事項 2004
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