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Page 1
Unusual splice site mutations disrupt FANCA exon 8 definition.
Mattioli C, Pianigiani G, De Rocco D, Bianco AM, Cappelli E, Savoia A, Pagani F. Mattioli C, et al. Among authors: savoia a. Biochim Biophys Acta. 2014 Jul;1842(7):1052-8. doi: 10.1016/j.bbadis.2014.03.014. Epub 2014 Apr 1. Biochim Biophys Acta. 2014. PMID: 24704046 Free article.
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia.
Borriello A, Locasciulli A, Bianco AM, Criscuolo M, Conti V, Grammatico P, Cappellacci S, Zatterale A, Morgese F, Cucciolla V, Delia D, Della Ragione F, Savoia A. Borriello A, et al. Among authors: savoia a. Leukemia. 2007 Jan;21(1):72-8. doi: 10.1038/sj.leu.2404468. Epub 2006 Nov 9. Leukemia. 2007. PMID: 17096012
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
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL. Pippucci T, et al. Among authors: savoia a. Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006. Am J Hum Genet. 2011. PMID: 21211618 Free PMC article.
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A. Bottega R, et al. Among authors: savoia a. Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25. Haematologica. 2013. PMID: 23100277 Free PMC article.
222 results