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Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
Nicchia E, Greco C, De Rocco D, Pecile V, D'Eustacchio A, Cappelli E, Corti P, Marra N, Ramenghi U, Pillon M, Farruggia P, Dufour C, Pallavicini A, Torelli L, Savoia A. Nicchia E, et al. Among authors: farruggia p. Mol Genet Genomic Med. 2015 Jul 2;3(6):500-12. doi: 10.1002/mgg3.160. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740942 Free PMC article.
Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).
Fioredda F, Calvillo M, Bonanomi S, Coliva T, Tucci F, Farruggia P, Pillon M, Martire B, Ghilardi R, Ramenghi U, Renga D, Menna G, Barone A, Lanciotti M, Dufour C. Fioredda F, et al. Among authors: farruggia p. Pediatr Blood Cancer. 2011 Jul 15;57(1):10-7. doi: 10.1002/pbc.23108. Epub 2011 Mar 29. Pediatr Blood Cancer. 2011. PMID: 21448998 Review.
Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).
Fioredda F, Calvillo M, Bonanomi S, Coliva T, Tucci F, Farruggia P, Pillon M, Martire B, Ghilardi R, Ramenghi U, Renga D, Menna G, Pusiol A, Barone A, Gambineri E, Palazzi G, Casazza G, Lanciotti M, Dufour C; Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica). Fioredda F, et al. Among authors: farruggia p. Am J Hematol. 2012 Feb;87(2):238-43. doi: 10.1002/ajh.22242. Epub 2011 Dec 27. Am J Hematol. 2012. PMID: 22213173 Free article.
Fanconi anemia patients are more susceptible to infection with tumor virus SV40.
Comar M, De Rocco D, Cappelli E, Zanotta N, Bottega R, Svahn J, Farruggia P, Misuraca A, Corsolini F, Dufour C, Savoia A. Comar M, et al. Among authors: farruggia p. PLoS One. 2013 Nov 18;8(11):e79683. doi: 10.1371/journal.pone.0079683. eCollection 2013. PLoS One. 2013. PMID: 24260277 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. Among authors: farruggia p. Haematologica. 2014 Jun;99(6):1022-31. doi: 10.3324/haematol.2014.104224. Epub 2014 Feb 28. Haematologica. 2014. PMID: 24584348 Free PMC article.
Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP).
Barone A, Lucarelli A, Onofrillo D, Verzegnassi F, Bonanomi S, Cesaro S, Fioredda F, Iori AP, Ladogana S, Locasciulli A, Longoni D, Lanciotti M, Macaluso A, Mandaglio R, Marra N, Martire B, Maruzzi M, Menna G, Notarangelo LD, Palazzi G, Pillon M, Ramenghi U, Russo G, Svahn J, Timeus F, Tucci F, Cugno C, Zecca M, Farruggia P, Dufour C, Saracco P; Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association. Barone A, et al. Among authors: farruggia p. Blood Cells Mol Dis. 2015 Jun;55(1):40-7. doi: 10.1016/j.bcmd.2015.03.007. Epub 2015 Mar 31. Blood Cells Mol Dis. 2015. PMID: 25976466
AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.
Virts EL, Jankowska A, Mackay C, Glaas MF, Wiek C, Kelich SL, Lottmann N, Kennedy FM, Marchal C, Lehnert E, Scharf RE, Dufour C, Lanciotti M, Farruggia P, Santoro A, Savasan S, Scheckenbach K, Schipper J, Wagenmann M, Lewis T, Leffak M, Farlow JL, Foroud TM, Honisch E, Niederacher D, Chakraborty SC, Vance GH, Pruss D, Timms KM, Lanchbury JS, Alpi AF, Hanenberg H. Virts EL, et al. Among authors: farruggia p. Hum Mol Genet. 2015 Sep 15;24(18):5093-108. doi: 10.1093/hmg/ddv227. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085575 Free PMC article.
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