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[Munc13-4 is essential for cytolytic granule fusion].
Feldmann J, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: fischer a. Med Sci (Paris). 2004 Feb;20(2):144-6. doi: 10.1051/medsci/2004202144. Med Sci (Paris). 2004. PMID: 14997430 Free article. French. No abstract available.
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
Hacein-Bey-Abina S, Le Deist F, Carlier F, Bouneaud C, Hue C, De Villartay JP, Thrasher AJ, Wulffraat N, Sorensen R, Dupuis-Girod S, Fischer A, Davies EG, Kuis W, Leiva L, Cavazzana-Calvo M. Hacein-Bey-Abina S, et al. Among authors: fischer a. N Engl J Med. 2002 Apr 18;346(16):1185-93. doi: 10.1056/NEJMoa012616. N Engl J Med. 2002. PMID: 11961146 Free article. Clinical Trial.
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.
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.
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II.
Wiszniewski W, Fondaneche MC, Louise-Plence P, Prochnicka-Chalufour A, Selz F, Picard C, Le Deist F, Eliaou JF, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: fischer a. Immunogenetics. 2003 Feb;54(11):747-55. doi: 10.1007/s00251-002-0521-1. Epub 2003 Jan 16. Immunogenetics. 2003. PMID: 12618906
5,152 results