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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.
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
Pilonetto DV, Pereira NF, Bonfim CMS, Ribeiro LL, Bitencourt MA, Kerkhoven L, Floor K, Ameziane N, Joenje H, Gille JJP, Pasquini R. Pilonetto DV, et al. Mol Genet Genomic Med. 2017 May 9;5(4):360-372. doi: 10.1002/mgg3.293. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717661 Free PMC article.
Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O, Goldberg TA, Yacobovich J, Levin C, Koren A, Revel-Vilk S, Ben-Ami T, Kuperman AA, Zemer VS, Toren A, Kapelushnik J, Ben-Barak A, Miskin H, Krasnov T, Noy-Lotan S, Dgany O, Tamary H. Steinberg-Shemer O, et al. Haematologica. 2020 Jul;105(7):1825-1834. doi: 10.3324/haematol.2019.222877. Epub 2019 Sep 26. Haematologica. 2020. PMID: 31558676 Free PMC article.