Publications by authors named "Isabelle Touitou"

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Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
Maryam Rezaei, Manqi Liang, Zeynep Yalcin, Jacinta H Martin, Parinaz Kazemi, Isabelle Touitou

J Clin Invest· November 2024

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The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Eldad Ben-Chetrit, Isabelle Touitou

Clin Genet· September 2024

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Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Isabelle Touitou

J Exp Med· May 2024

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Correspondence on 'Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases'.
Gonçalo Boleto, Carolla El Chamieh, Lucie Biard, Isabelle Koné-Paut, Veronique Hentgen, Isabelle Touitou

Ann Rheum Dis· October 2023

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TNFRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome.
Anna M Gerritsma, Diana Sutera, Luca Cantarini, Marco Cattalini, Helen J Lachmann, Isabelle Touitou

Clin Exp Rheumatol· October 2023

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Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study.
Lionel Heiser, Martin Broly, Cécile Rittore, Isabelle Touitou, Sophie Georgin-Lavialle

Genes (Basel)· October 2023

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[Autoinflammatory diseases in children: The contribution of genetics].
Guilaine Boursier, Isabelle Touitou

Rev Prat· October 2023

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MicroRNAs in inflammasomopathies.
Norma Saad, Isabelle Duroux-Richard, Isabelle Touitou, Eric Jeziorski, Florence Apparailly

Immunol Lett· May 2023

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Quality of life in monogenic autoinflammatory diseases. A review.
Isabelle Touitou, Eric Jéziorski, Afnan Al-Saleh, Aurélia Carbasse, Maryam Piram

Joint Bone Spine· March 2023

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Mutations in the B30.2 and the central helical scaffold domains of pyrin differentially affect inflammasome activation.
Daria Chirita, Pauline Bronnec, Flora Magnotti, Sarah Dalmon, Amandine Martin, Isabelle Touitou

Cell Death Dis· March 2023

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Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Rima Slim, Rosemary Fisher, Florian Milhavet, Reda Hemida, Samantha Rojas, Isabelle Touitou

Hum Mutat· December 2022

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Gain-of-function mutations in cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner, Isabelle Touitou

Ann Rheum Dis· October 2022

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Evaluation of post-infectious inflammatory reactions in a retrospective study of 3 common invasive bacterial infections in pediatrics.
Pauline Abraham, Gregory Marin, Anne Filleron, Anne-Laure Michon, Hélène Marchandin, Isabelle Touitou

Medicine (Baltimore)· September 2022

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Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.
Isabelle Touitou

Genes Dis· July 2022

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DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.
Antoine Fayand, François Chasset, David Boutboul, Viviane Queyrel, Nathalie Tieulié, Isabelle Touitou

Semin Arthritis Rheum· December 2021

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Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.
Guilaine Boursier, Maryam Piram, Cécile Rittore, Guillaume Sarrabay, Isabelle Touitou

J Invest Dermatol· May 2021

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Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.
Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou

J Clin Med· April 2021

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INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry.
Riccardo Papa, Thirusha Lane, Kirsten Minden, Isabelle Touitou, Luca Cantarini

J Allergy Clin Immunol Pract· February 2021

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First report of MEFV gene duplication in a patient with familial Mediterranean fever.
Déborah Mechin, Anna Durinikova, Guilaine Boursier, Marc André, Isabelle Touitou

Clin Exp Rheumatol· February 2021

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TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Cécile Rittore, Déborah Méchin, Elodie Sanchez, Léa Marinèche, Vuthy Ea, Isabelle Touitou

Sci Rep· February 2021

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Clinical and pathological dermatological features of deficiency of adenosine deaminase 2: A multicenter, retrospective, observational study.
François Chasset, Antoine Fayand, Philippe Moguelet, Floriane Kouby, Axelle Bonhomme, Isabelle Touitou

J Am Acad Dermatol· December 2020

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Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Valentin Ruault, Kevin Yauy, Aurélie Fabre, Mélanie Fradin, Julien Van-Gils, Isabelle Touitou

Arthritis Rheumatol· October 2020

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C-reactive protein and ART outcomes: a systematic review.
Sophie Brouillet, Guilaine Boursier, Margaux Anav, Bertille Du Boulet De La Boissière, Anna Gala, Isabelle Touitou

Hum Reprod Update· September 2020

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Pregnancy after oocyte donation in a patient with NLRP7 gene mutations and recurrent molar hydatidiform pregnancies.
Claire Cozette, Florence Scheffler, Melyne Lombart, Jerome Massardier, Pierre-Adrien Bolze, Isabelle Touitou

J Assist Reprod Genet· September 2020

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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
Yael Shinar, Isabella Ceccherini, Dorota Rowczenio, Ivona Aksentijevich, Juan Arostegui, Isabelle Touitou

Clin Chem· April 2020

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