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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: marconi c. 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.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Melazzini F, et al. Among authors: marconi c. Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30. Haematologica. 2016. PMID: 27365488 Free PMC article.
Mutations of RUNX1 in families with inherited thrombocytopenia.
De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MS, Glembotsky AC, Heller PG, Seri M, Savoia A, Noris P. De Rocco D, et al. Among authors: marconi c. Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24. Am J Hematol. 2017. PMID: 28240786 Free article. No abstract available.
164 results