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Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B. Zhong FL, et al. Among authors: malecaze f. Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001. Cell. 2016. PMID: 27662089 Free article.
[Iris-fixated intraocular lenses: reinforced monitoring].
Fournié P, Malecaze F. Fournié P, et al. Among authors: malecaze f. J Fr Ophtalmol. 2009 Nov;32(9):687-94. doi: 10.1016/j.jfo.2009.04.015. Epub 2009 Jun 10. J Fr Ophtalmol. 2009. PMID: 19520458 French.
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
Soler VJ, Tran-Viet KN, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E, Fournié PR, Guillaud C, Maurer-Stroh S, Hawthorne F, Suarez C, Kantelip B, Afshari NA, Creveaux I, Luo X, Meng W, Calvas P, Cassagne M, Arné JL, Rozen SG, Malecaze F, Young TL. Soler VJ, et al. Among authors: malecaze f. J Med Genet. 2013 Apr;50(4):246-54. doi: 10.1136/jmedgenet-2012-101325. Epub 2013 Jan 24. J Med Genet. 2013. PMID: 23349227 Free PMC article.
191 results