The spectrum of Familial Mediterranean Fever (FMF) mutations von Touitou, I

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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients von Hofer, Michaël, Pillet, Pascal, Cochard, Marie-Madeleine, Berg, Stefan, Krol, Petra, Kone-Paut, Isabelle, Rigante, Donato, Hentgen, Véronique, Anton, Jordi, Brik, Riva, Neven, Bénédicte, Touitou, Isabelle, Kaiser, Daniela, Duquesne, Agnès, Wouters, Carine, Gattorno, Marco

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Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France von Cuisset, L, Jeru, I, Dumont, B, Fabre, A, Cochet, E, Le Bozec, J, Delpech, M, Amselem, S, Touitou, I

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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry von Lachmann, H J, Papa, R, Gerhold, K, Obici, L, Touitou, I, Cantarini, L, Frenkel, J, Anton, J, Kone-Paut, I, Cattalini, M, Bader-Meunier, B, Insalaco, A, Hentgen, V, Merino, R, Modesto, C, Toplak, N, Berendes, R, Ozen, S, Cimaz, R, Jansson, A, Brogan, P A, Hawkins, P N, Ruperto, N, Martini, A, Woo, P, Gattorno, M

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Guidelines for the genetic diagnosis of hereditary recurrent fevers von Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I

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Is gene panel sequencing more efficient than clinical‐based gene sequencing to diagnose autoinflammatory diseases? A randomized study von Rama, M., Mura, T., Kone‐Paut, I., Boursier, G., Aouinti, S., Touitou, I., Sarrabay, G.

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French protocol for the diagnosis and management of familial Mediterranean fever von Georgin-Lavialle, S., Savey, L., Cuisset, L., Boursier, G., Boffa, J.-J., Delplanque, M., Bourguiba, R., Monfort, J.-B., Touitou, I., Grateau, G., Kone-Paut, I., Hentgen, V.

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Discordant sex in monozygotic XXY/XX twins: a case report von Tachon, G., Lefort, G., Puechberty, J., Schneider, A., Jeandel, C., Boulot, P., Prodhomme, O., Meyer, P., Taviaux, S., Touitou, I., Pellestor, F., Geneviève, D., Gatinois, V.

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ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters von Uettwiller, F, Sarrabay, G, Rodero, M P, Rice, G I, Lagrue, E, Marot, Y, Deiva, K, Touitou, I, Crow, Y J, Quartier, P

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The impact of MEFV gene identification on FMF: an appraisal after 15 years von Ben-Chetrit, E, Touitou, I

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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations von Lehman, N., Mazery, A.C., Visier, A., Baumann, C., Lachesnais, D., Capri, Y., Toutain, A., Odent, S., Mikaty, M., Goizet, C., Taupiac, E., Jacquemont, M.L., Sanchez, E., Schaefer, E., Gatinois, V., Faivre, L., Minot, D., Kayirangwa, H., Sang, K.‐H.L.Q., Boddaert, N., Bayard, S., Lacombe, D., Moutton, S., Touitou, I., Rio, M., Amiel, J., Lyonnet, S., Sanlaville, D., Picot, M.C., Geneviève, D.

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The regulation of MEFV expression and its role in health and familial Mediterranean fever von Grandemange, S, Aksentijevich, I, Jeru, I, Gul, A, Touitou, I

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Mevalonate kinase deficiency in 2016 von Galeotti, C, Georgin-Lavialle, S, Sarrabay, G, Touitou, I, Koné-Paut, I

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The clinical spectrum of 94 patients carrying a single mutated MEFV allele von Koné-Paut, Isabelle, Hentgen, Véronique, Guillaume-Czitrom, Severine, Compeyrot-Lacassagne, Sandrine, Tran, Tu-Anh, Touitou, Isabelle

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The autoinflammatory diseases: a fashion with blurred boundaries von Sarrabay, G., Barat-Houari, M., Annakib, S., Touitou, I.

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AB0858 Rare NOD2 Variants in Patients with Granulomatous Uveitis von Galeotti, C., Sarrabay, G., Fogel, O., Touitou, I., Bodaghi, B., Miceli-Richard, C., Koné-Paut, I.

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Autoinflammatory gene mutations in Behçet’s disease von Koné-Paut, I, Sanchez, E, Le Quellec, A, Manna, R, Touitou, I

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Fièvre méditerranéenne familiale et autres maladies auto-inflammatoires : de la génétique à la pratique médicale von Touitou, I.

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Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art von Georgin-Lavialle, S, Kone-Paut, I, Delaleu, J, Sarrabay, G, Grateau, G, Touitou, I, Hentgen, V

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NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier von Sarrabay, G, Tachon, G, Mechin, D, Touitou, I

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