Որոնման արդյունքները - Isabelle Touitou
- Ցուցադրվում են 1 - 20 արդյունքները 36
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The spectrum of Familial Mediterranean Fever (FMF) mutations Isabelle Touitou
Հրապարակվել է 2001Revisão -
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Autoinflammatory gene mutations in Behcet's disease Isabelle Koné‐Paut, Elodie Sanchez, A. Le Quellec, Raffaele Manna, Isabelle Touitou
Հրապարակվել է 2007Artigo -
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Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study Eldad Ben‐Chetrit, Marco Gattorno, Ahmet Gül, Daniel L. Kastner, Helen J. Lachmann, Isabelle Touitou, Nicolino Ruperto
Հրապարակվել է 2018Revisão -
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Tolerance and efficacy of off-label anti-interleukin-1 treatments in France: a nationwide survey Linda Rossi‐Semerano, Bruno Fautrel, Daniel Wendling, É. Hachulla, Caroline Galeotti, Luca Semerano, Isabelle Touitou, Isabelle Koné‐Paut
Հրապարակվել է 2015Artigo -
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Circulating miRNA-125b Is a Potential Biomarker Predicting Response to Rituximab in Rheumatoid Arthritis Isabelle Duroux-Richard, Yves‐Marie Pers, Sylvie Fabre, Meryem Ammari, Dominique Baeten, Guillaume Cartron, Isabelle Touitou, Christian Jørgensen, Florence Apparailly
Հրապարակվել է 2014Artigo -
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Familial Mediterranean fever is no longer a rare disease in Italy Micaela La Regina, Gabriella Nucera, M. Diaco, Antonio Domenico Procopio, Antonio Gasbarrini, Cécile Notarnicola, Isabelle Koné‐Paut, Isabelle Touitou, Raffaele Manna
Հրապարակվել է 2003Artigo -
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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters Florence Uettwiller, Guillaume Sarrabay, Mathieu P. Rodero, Gillian Rice, Emmanuelle Lagrue, Y. Marot, Kumaran Deiva, Isabelle Touitou, Yanick J. Crow, Pierre Quartier
Հրապարակվել է 2016Artigo -
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Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF) 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
Հրապարակվել է 1998Artigo -
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The infevers autoinflammatory mutation online registry: update with new genes and functions 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
Հրապարակվել է 2008Artigo -
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Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 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
Հրապարակվել է 2012Artigo -
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MEFV mutations in Beh�et's disease 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
Հրապարակվել է 2000Artigo -
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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients 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
Հրապարակվել է 2014Artigo -
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (I... 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
Հրապարակվել է 2018Artigo -
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Infevers: An evolving mutation database for auto-inflammatory syndromes 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
Հրապարակվել է 2004Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Medicine
Biology
Gene
Genetics
Mutation
Disease
Internal medicine
Familial Mediterranean fever
Gene mutation
MEFV
Immunology
Genotype
Pathology
Phenotype
Allele
Computational biology
Exon
Haplotype
Inflammasome
Pediatrics
Bioinformatics
Dermatology
Genetic testing
Genotype-phenotype distinction
Inflammation
Pyrin domain
Arthritis
Compound heterozygosity
Computer science
Family medicine