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RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.
Westermann-Clark E, Grossi A, Fioredda F, Giardino S, Cappelli E, Terranova P, Palmisani E, Farmer JR, Foldvari Z, Yamazaki Y, Faraci M, Lanino E, Notarangelo LD, Dufour C, Ceccherini I, Walter JE, Miano M. Westermann-Clark E, et al. Among authors: cappelli e. Clin Immunol. 2018 Feb;187:102-103. doi: 10.1016/j.clim.2017.10.012. Epub 2017 Nov 20. Clin Immunol. 2018. PMID: 29104089 Free PMC article. No abstract available.
Immunological profile of Fanconi anemia: a multicentric retrospective analysis of 61 patients.
Korthof ET, Svahn J, Peffault de Latour R, Terranova P, Moins-Teisserenc H, Socié G, Soulier J, Kok M, Bredius RG, van Tol M, Jol-van der Zijde EC, Pistorio A, Corsolini F, Parodi A, Battaglia F, Pistoia V, Dufour C, Cappelli E. Korthof ET, et al. Among authors: cappelli e. Am J Hematol. 2013 Jun;88(6):472-6. doi: 10.1002/ajh.23435. Epub 2013 May 2. Am J Hematol. 2013. PMID: 23483621 Free article.
Mitochondrial respiratory complex I defects in Fanconi anemia.
Cappelli E, Ravera S, Vaccaro D, Cuccarolo P, Bartolucci M, Panfoli I, Dufour C, Degan P. Cappelli E, et al. Trends Mol Med. 2013 Sep;19(9):513-4. doi: 10.1016/j.molmed.2013.07.008. Epub 2013 Aug 6. Trends Mol Med. 2013. PMID: 23932594 Review.
Dysregulated Ca2+ homeostasis in Fanconi anemia cells.
Usai C, Ravera S, Cuccarolo P, Panfoli I, Dufour C, Cappelli E, Degan P. Usai C, et al. Among authors: cappelli e. Sci Rep. 2015 Jan 28;5:8088. doi: 10.1038/srep08088. Sci Rep. 2015. PMID: 25627108 Free PMC article.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A. Nicchia E, et al. Among authors: cappelli e. Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 26033879
Fanconi anemia: from DNA repair to metabolism.
Ravera S, Dufour C, Degan P, Cappelli E. Ravera S, et al. Among authors: cappelli e. Eur J Hum Genet. 2018 Apr;26(4):475-476. doi: 10.1038/s41431-017-0046-6. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396564 Free PMC article. No abstract available.
122 results