Isabelle Touitou

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 16

Top Topics

Nlrp Inflammasome

Top Venues

The Journal of experimental medicine

European journal of human genetics : EJHG

Clinical genetics

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Eldad Ben-Chetrit, Isabelle Touitou
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clinical genetics 106 (3) (2024)
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Alatiff, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Stéphanie Ducharme-Bénard, Bénédicte F Py
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation. The Journal of experimental medicine 221 (5) (2024)
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Alatiff, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Stéphanie Ducharme-Bénard, Bénédicte F Py
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation. The Journal of experimental medicine 221 (5) (2024)
Eldad Ben-Chetrit, Isabelle Touitou
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clinical genetics (2024)
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Alatiff, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Stéphanie Ducharme-Bénard, Bénédicte F Py
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation. The Journal of experimental medicine 221 (5) (2024)
Eldad Ben-Chetrit, Isabelle Touitou
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clinical genetics 106 (3) (2024)
Camille Cosson, Romane Riou, Danish Patoli, Tingting Niu, Amaury Rey, Marine Groslambert, Charlotte De Rosny, Elodie Chatre, Omran Alatiff, Thomas Henry, Fabienne Venet, Florian Milhavet, Guilaine Boursier, Alexandre Belot, Yvan Jamilloux, Etienne Merlin, Agnès Duquesne, Gilles Grateau, Léa Savey, Alexandre Thibault Jacques Maria, Anne Pagnier, Solène Poutrel, Olivier Lambotte, Coralie Mallebranche, Samuel Ardois, Olivier Richer, Irène Lemelle, Frédéric Rieux-Laucat, Brigitte Bader-Meunier, Zahir Amoura, Isabelle Melki, Laurence Cuisset, Isabelle Touitou, Matthias Geyer, Stéphanie Ducharme-Bénard, Bénédicte F Py
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation. The Journal of experimental medicine 221 (5) (2024)
Lionel Heiser, Martin Broly, Cécile Rittore, Isabelle Touitou, Sophie Georgin-Lavialle, Guilaine Boursier
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study. Genes 14 (10) (2023)
Rima Slim, Rosemary Fisher, Florian Milhavet, Reda Hemida, Samantha K Rojas, Cécile Rittore, Rashmi Bagga, Monica Aguinaga, Isabelle Touitou
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus. Human mutation (2022)
Cécile Rittore, Déborah Méchin, Elodie Sanchez, Léa Marinèche, Vuthy Ea, Stephan Soler, Marion Vereecke, Aude Mallavialle, Eric Richard, Isabelle Duroux-Richard, Florence Apparailly, Isabelle Touitou, Sylvie Grandemange
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS. Scientific reports 11 (1) (2021)
Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou
Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation. Journal of clinical medicine 10 (8) (2021)
Dorota Rowczenio, Yael Shinar, Isabella Ceccherini, Katie Sheils, Marielle Van Gijn, Simon J Patton, Isabelle Touitou
Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey. European journal of human genetics : EJHG 27 (10) (2019)
Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Genevieve, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel-Moranne, Nathalie Tieulie, Jonathan London, Florence Uettwiller, Sophie Georgin-Lavialle, Alexandre Belot, Isabelle Koné-Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience. European journal of human genetics : EJHG 26 (7) (2018)
Mélanie Rama, Isabelle Touitou, Guillaume Sarrabay
Reply to Sönmez et al. European journal of human genetics : EJHG 26 (11) (2018)
Marielle Labrousse, Charlotte Kevorkian-Verguet, Guilaine Boursier, Dorota Rowczenio, François Maurier, Estibaliz Lazaro, Manjari Aggarwal, Irène Lemelle, Thibault Mura, Alexandre Belot, Isabelle Touitou, Guillaume Sarrabay
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review. Critical reviews in clinical laboratory sciences 55 (6) (2018)
Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M'Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly
TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin. Journal of immunology research 2017 (2017)