In press
Fièvre Méditerranéenne Familiale : nouveaux phénotypes et mécanismes génétiques
Martin Broly, Guilaine Boursier, Isabelle Touitou*
BULL ACAD NATL MED - 2023
Maladies auto-inflammatoires de l’enfant : apport de la génétique
Guilaine Boursier, Isabelle Touitou
REV PRAT - 2023
2024 Voir une autre année ?
Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal nevus with "skyline" basal cell layer (PENS).
Bessis D, Poujade L, Cossée M, Boursier G, Barat-Houari M, Tharreau M, Durand L, Aguilar SC, Solassol J, Willems M, Vendrell J.
Br J Dermatol, 2024 Jun 3. pii: ljae236. doi: 10.1093/bjd/ljae236. Epub 2024 Jun 3.
PubMed
The significance of carrying MEFV variants in symptomatic and asymptomatic individuals.
Ben-Chetrit E, Touitou I.
Clin Genet, 2024 May 31. doi: 10.1111/cge.14566. Epub 2024 May 31.
PubMed
[Genetic mosaicism in Systemic Auto-Inflammatory Diseases: A review of the literature].
Parentelli AS, Boursier G, Cuisset L, Georgin-Lavialle S.
Rev Med Interne, 2024 May 17. pii: S0248-8663(24)00566-6. doi: 10.1016/j.revmed.2024.05.003. Epub 2024 May 17.
PubMed
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF.
J Exp Med, 2024 May 6. doi: 10.1084/jem.20231200. Epub 2024 Mar 26.
PubMed
Pyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation.
Terré A, Magnotti F, Piot JM, Boursier G, Georgin-Lavialle S.
Eur J Intern Med, 2024 Feb. doi: 10.1016/j.ejim.2023.11.014. Epub 2023 Nov 18.
PubMed