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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: savoia a. 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.
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. Among authors: savoia a. Am J Hum Genet. 1997 Dec;61(6):1246-53. doi: 10.1086/301632. Am J Hum Genet. 1997. PMID: 9399890 Free PMC article.
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
de Rocco D, Heller PG, Girotto G, Pastore A, Glembotsky AC, Marta RF, Bozzi V, Pecci A, Molinas FC, Savoia A. de Rocco D, et al. Among authors: savoia a. Platelets. 2009 Dec;20(8):598-602. doi: 10.3109/09537100903349620. Platelets. 2009. PMID: 19860543 Free article.
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, Pecci A. Savoia A, et al. Thromb Haemost. 2010 Apr;103(4):826-32. doi: 10.1160/TH09-08-0593. Epub 2010 Feb 19. Thromb Haemost. 2010. PMID: 20174760
223 results