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  • Marco Seri, Alessandro Pecci, +22 authors Anna Savoia
  • Medicine
  • Medicine
  • 2003 (First Publication: 1 May 2003)
  • May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratoryExpand
  • Tommaso Pippucci, Anna Savoia, +20 authors Carlo L. Balduini
  • Biology, Medicine
  • American journal of human genetics
  • 2011 (First Publication: 7 January 2011)
  • THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that ANKRD26, another gene within the THC2 locus,Expand
  • Valeria Tiranti, Anna Savoia, +4 authors Massimo Zeviani
  • Medicine, Biology
  • Human molecular genetics
  • 1997 (First Publication: 1 April 1997)
  • A gene cloning strategy based on the screening of the Expressed Sequence Tags database (dbEST) using sequences of mitochondrial housekeeping proteins of yeast was employed to identify the cDNAExpand
  • Marco Seri, Roberto Cusano, +22 authors John A. Martignetti
  • Medicine, Biology
  • Nature genetics
  • 2000 (First Publication: 1 September 2000)
  • The autosomal dominant, giant-platelet disorders, May-Hegglin anomaly (MHA; MIM 155100), Fechtner syndrome (FTNS; MIM 153640) and Sebastian syndrome (SBS), share the triad of thrombocytopenia, largeExpand