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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. Bessis D, et al. Among authors: boursier g. Br J Dermatol. 2024 Jun 3:ljae236. doi: 10.1093/bjd/ljae236. Online ahead of print. Br J Dermatol. 2024. PMID: 38828639 No abstract available.
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. Cosson C, et al. Among authors: boursier g. J Exp Med. 2024 May 6;221(5):e20231200. doi: 10.1084/jem.20231200. Epub 2024 Mar 26. J Exp Med. 2024. PMID: 38530241 Free PMC article.
L’haploinsuffisance de A20 : que doit connaître le clinicien?
Elhani I, Aouba A, Riller Q, Vergneault H, Boursier G, Rieux-Laucat F, Hentgen V, Georgin-Lavialle S. Elhani I, et al. Among authors: boursier g. Rev Med Interne. 2023 Dec 29:S0248-8663(23)01321-8. doi: 10.1016/j.revmed.2023.12.004. Online ahead of print. Rev Med Interne. 2023. PMID: 38160098 Review. French.
A20 Haploinsufficiency: A Systematic Review of 177 Cases.
Elhani I, Riller Q, Boursier G, Hentgen V, Rieux-Laucat F, Georgin-Lavialle S. Elhani I, et al. Among authors: boursier g. J Invest Dermatol. 2024 Jun;144(6):1282-1294.e8. doi: 10.1016/j.jid.2023.12.007. Epub 2023 Dec 19. J Invest Dermatol. 2024. PMID: 38128752
71 results