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Journal Article
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012;97(1):82-8.
Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012;97(1):82-8.
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 KStano, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 2016;
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 KStano, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 2016;
Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A. Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. Birth Defects Res A Clin Mol Teratol 2015;103(12):1003-1010.
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OMaria, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study. J Rheumatol 2016;43(6):1093-100.
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OMaria, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study. J Rheumatol 2016;43(6):1093-100.
Cancrini C, Puliafito P, Digilio MCristina, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EMaria, Cardinale F, Finocchi A, Romiti MLuisa, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MCristina, Marino B, Ugazio AGiovanni, Plebani A, Rossi P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
Cancrini C, Puliafito P, Digilio MCristina, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EMaria, Cardinale F, Finocchi A, Romiti MLuisa, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MCristina, Marino B, Ugazio AGiovanni, Plebani A, Rossi P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
Cancrini C, Puliafito P, Digilio MCristina, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EMaria, Cardinale F, Finocchi A, Romiti MLuisa, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MCristina, Marino B, Ugazio AGiovanni, Plebani A, Rossi P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
Cancrini C, Puliafito P, Digilio MCristina, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EMaria, Cardinale F, Finocchi A, Romiti MLuisa, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MCristina, Marino B, Ugazio AGiovanni, Plebani A, Rossi P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.
Cancrini C, Puliafito P, Digilio MCristina, Soresina A, Martino S, Rondelli R, Consolini R, Ruga EMaria, Cardinale F, Finocchi A, Romiti MLuisa, Martire B, Bacchetta R, Albano V, Carotti A, Specchia F, Montin D, Cirillo E, Cocchi G, Trizzino A, Bossi G, Milanesi O, Azzari C, Corsello G, Pignata C, Aiuti A, Pietrogrande MCristina, Marino B, Ugazio AGiovanni, Plebani A, Rossi P. Clinical features and follow-up in patients with 22q11.2 deletion syndrome. J Pediatr 2014;164(6):1475-80.e2.

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