Main scientific publications of the chair of the SWG

Papers describing the discovery of new forms of inherited thrombocytopenia:

  • Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia. 
    Marconi C, Di Buduo CA, LeVine K, Barozzi S, Faleschini M, Bozzi V, Palombo F, McKinstry S, Lassandro G, Giordano P, Noris P, Balduini CL, Savoia A, Balduini A, Pippucci T, Seri M, Katsanis N, Pecci A.
    Blood. Epub 2018 Dec 27

  • Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
    Pecci A, Ragab I, Bozzi V, De Rocco D, Barozzi S, Giangregorio T, Ali H, Melazzini F, Sallam M, Alfano C, Pastore A, Balduini CL, Savoia A. 
    EMBO Mol Med. 2018 Jan;10(1):63-75

Review papers:

  • Thrombopoietin receptor agonists in hereditary thrombocytopenias.
    Rodeghiero F, Pecci A, Balduini CL.
    J Thromb Haemost. 2018 Sep;16(9):1700-1710

  • Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases.
    Balduini A, Raslova H, Di Buduo CA, Donada A, Ballmaier M, Germeshausen M, Balduini CL.
    Eur J Med Genet. 2018 Nov;61(11):715-722

Book chapter:

  • Familial thrombocytopenias, in Hemorrhagic and thrombotic disorders
    Balduini CL.
    Falanga and Castaman eds, Piccin, 2018