GIANGREGORIO, TANIA
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene
2018-01-01 Noris, Patrizia; Marconi, Caterina; DE ROCCO, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
2017-01-01 Palombo, Flavia; Al Wardy, Nadia; Ruscone, Guido Alberto Gnecchi; Oppo, Manuela; Kindi, Mohammed Nasser Al; Angius, Andrea; Al Lamki, Khalsa; Girotto, Giorgia; Giangregorio, Tania; Benelli, Matteo; Magi, Alberto; Seri, Marco; Gasparini, Paolo; Cucca, Francesco; Sazzini, Marco; Al Khabori, Mazin; Pippucci, Tommaso; Romeo, Giovanni
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia
2018-01-01 Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
2022-01-01 Faleschini, Michela; Papa, Nicole; Morel-Kopp, Marie-Christine; Marconi, Caterina; Giangregorio, Tania; Melazzini, Federica; Bozzi, Valeria; Seri, Marco; Noris, Patrizia; Pecci, Alessandro; Savoia, Anna; Bottega, Roberta
High throughput sequencing analysis for the molecular diagnosis of Inherited Thrombocytopenias
2019-03-17 Giangregorio, Tania
MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder
2019-01-01 Zaninetti, Carlo; de Rocco, Daniela; Giangregorio, Tania; Bozzi, Valeria; Demeter, Judit; Leoni, Pietro; Noris, Patrizia; Ryhänen, Samppa; Barozzi, Serena; Pecci, Alessandro; Savoia, Anna
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
2018-01-01 Pecci, Alessandro; Ragab, Iman; Bozzi, Valeria; De Rocco, Daniela; Barozzi, Serena; Giangregorio, Tania; Ali, Heba; Melazzini, Federica; Sallam, Mohamed; Alfano, Caterina; Pastore, Annalisa; Balduini, Carlo L; Savoia, Anna