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Isabelle Touitou
Researcher at French Institute of Health and Medical Research
Publications - 59
Citations - 2709
Isabelle Touitou is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Familial Mediterranean fever & Gene. The author has an hindex of 22, co-authored 59 publications receiving 2116 citations. Previous affiliations of Isabelle Touitou include University of Montpellier.
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Journal ArticleDOI
Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno,Michael Hofer,Silvia Federici,Federica Vanoni,Francesca Bovis,Ivona Aksentijevich,Jordi Anton,Juan I. Aróstegui,Karyl S. Barron,Eldad Ben-Cherit,Paul A. Brogan,Luca Cantarini,Isabella Ceccherini,Fabrizio De Benedetti,Fatma Dedeoglu,Erkan Demirkaya,Joost Frenkel,Raphaela Goldbach-Mansky,Ahmet Gül,Véronique Hentgen,Hal M. Hoffman,Tilmann Kallinich,Isabelle Koné-Paut,Jasmin B Kuemmerle-Deschner,Helen J. Lachmann,Ronald M. Laxer,Avi Livneh,Laura Obici,Seza Ozen,Dorota Rowczenio,Ricardo Russo,Yael Shinar,Anna Simon,Nataša Toplak,Isabelle Touitou,Yosef Uziel,Marielle E. van Gijn,Dirk Foell,Claudia Garassino,DL Kastner,Alberto Martini,Maria Pia Sormani,Nicolino Ruperto +42 more
TL;DR: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity and shows a high accuracy in an independent data set of 1018 patients.
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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
Helen J. Lachmann,Riccardo Papa,Kerstin Gerhold,Laura Obici,Isabelle Touitou,Luca Cantarini,Joost Frenkel,Jordi Anton,Isabelle Koné-Paut,Marco Cattalini,Brigitte Bader-Meunier,Antonella Insalaco,Véronique Hentgen,Rosa Merino,Consuelo Modesto,Nataša Toplak,Nataša Toplak,Rainer Berendes,Seza Ozen,Rolando Cimaz,Annette Jansson,Paul A. Brogan,Philip N. Hawkins,N Ruperto,Alberto Martini,P Woo,Marco Gattorno +26 more
TL;DR: The largest reported case series to date, the genetic heterogeneity of TRAPS is accompanied by a variable phenotype at presentation, with little evidence of a significant effect of age or genotype on disease features at presentation.
Journal ArticleDOI
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
David A. Parry,Clare V. Logan,Bruce E. Hayward,Michael Shires,Hanène Landolsi,Christine P. Diggle,Ian M. Carr,Cécile Rittore,Isabelle Touitou,Laurent Philibert,Rosemary A. Fisher,Masoumeh Fallahian,John Huntriss,Helen M. Picton,Saghira Malik,Graham R. Taylor,Colin A. Johnson,David T. Bonthron,Eamonn Sheridan +18 more
TL;DR: The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome.
Journal ArticleDOI
Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers
Silvia Federici,Maria Pia Sormani,Seza Ozen,Helen J. Lachmann,Gayane Amaryan,Patricia Woo,Isabelle Koné-Paut,Natacha Dewarrat,Luca Cantarini,Antonella Insalaco,Yosef Uziel,Donato Rigante,Pierre Quartier,Erkan Demirkaya,Troels Herlin,Antonella Meini,Giovanna Fabio,Tilmann Kallinich,Silvana Martino,Aviel Yonatan Butbul,Alma Nunzia Olivieri,Jasmin B Kuemmerle-Deschner,Bénédicte Neven,Anna Simon,Huri Ozdogan,Isabelle Touitou,Joost Frenkel,Michael Hofer,Alberto Martini,Nicolino Ruperto,Marco Gattorno +30 more
TL;DR: Evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed and validated.
Journal ArticleDOI
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)
Sylvie Grandemange,Elodie Sanchez,Pascale Louis-Plence,Pascale Louis-Plence,Frédéric Tran Mau-Them,Didier Bessis,Christine Coubes,Eric Frouin,Marieke M B Seyger,Manon Girard,Jacques Puechberty,Valérie Costes,Michel Rodière,Aurélia Carbasse,Eric Jeziorski,Pierre Portales,Guillaume Sarrabay,Guillaume Sarrabay,Michel Mondain,Christian Jorgensen,Christian Jorgensen,Florence Apparailly,Florence Apparailly,Esther P A H Hoppenreijs,Isabelle Touitou,Isabelle Touitou,David Geneviève,David Geneviève +27 more
TL;DR: The responsibility of human NLRP1 is demonstrated in a novel autoinflammatory disorder that is proposed to call NAIAD forNLRP1-associated autoinflammation with arthritis and dyskeratosis, highlighting the pleomorphic role of NLRP 1 in inflammation and immunity.