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Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: fischer a. Am J Hum Genet. 2002 Jul;71(1):198-203. doi: 10.1086/341357. Epub 2002 May 24. Am J Hum Genet. 2002. PMID: 12032915 Free PMC article.
Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency.
Yates F, Malassis-Séris M, Stockholm D, Bouneaud C, Larousserie F, Noguiez-Hellin P, Danos O, Kohn DB, Fischer A, de Villartay JP, Cavazzana-Calvo M. Yates F, et al. Among authors: fischer a. Blood. 2002 Dec 1;100(12):3942-9. doi: 10.1182/blood-2002-03-0782. Epub 2002 Aug 22. Blood. 2002. PMID: 12393742 Free article.
Griscelli syndrome types 1 and 2.
Ménasché G, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: fischer a. Am J Hum Genet. 2002 Nov;71(5):1237-8; author reply 1238. doi: 10.1086/344140. Am J Hum Genet. 2002. PMID: 12452176 Free PMC article. No abstract available.
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: fischer a. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G. Neven B, et al. Among authors: fischer a. Blood. 2004 Apr 1;103(7):2809-15. doi: 10.1182/blood-2003-07-2531. Epub 2003 Nov 20. Blood. 2004. PMID: 14630794 Free article.
5,152 results