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• Biallelic inactivation of REV7 is associated with Fanconi anemia.

  Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8. J Clin Invest. 2016. PMID: 27500492 Free PMC article.
• Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

  De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A; Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. De Rocco D, et al. Haematologica. 2014 Jun;99(6):1022-31. doi: 10.3324/haematol.2014.104224. Epub 2014 Feb 28. Haematologica. 2014. PMID: 24584348 Free PMC article.
• Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

  Savino M, Ianzano L, Strippoli P, Ramenghi U, Arslanian A, Bagnara GP, Joenje H, Zelante L, Savoia A. Savino M, et al. Am J Hum Genet. 1997 Dec;61(6):1246-53. doi: 10.1086/301632. Am J Hum Genet. 1997. PMID: 9399890 Free PMC article.
• TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells.

  Vanderwerf SM, Svahn J, Olson S, Rathbun RK, Harrington C, Yates J, Keeble W, Anderson DC, Anur P, Pereira NF, Pilonetto DV, Pasquini R, Bagby GC. Vanderwerf SM, et al. Blood. 2009 Dec 17;114(26):5290-8. doi: 10.1182/blood-2009-05-222414. Epub 2009 Oct 22. Blood. 2009. PMID: 19850743 Free PMC article.
• The Fanconi anemia pathway in replication stress and DNA crosslink repair.

  Jones MJ, Huang TT. Jones MJ, et al. Cell Mol Life Sci. 2012 Dec;69(23):3963-74. doi: 10.1007/s00018-012-1051-0. Epub 2012 Jun 29. Cell Mol Life Sci. 2012. PMID: 22744751 Free PMC article. Review.