Anna Savoia - Publications, H-index & Citations

Anna Savoia

university of verona

52H指数

202论文数

9.2K被引数

收录论文 67

发表时间

A Long Misdiagnosed MYH9-Related Disease With Both Bleeding and Thrombotic Manifestations: A Case Report 一例长期误诊的MYH9相关疾病，伴有出血和血栓形成表现：病例报告

Haemophilia

IF3

2026-09-15

PREAI

Arianna Pannunzio; Ilaria Maria Palumbo; Erminia Baldacci; Michela Faleschini; Daniele Ammeti; Silvio Ligia; Antonio Chistolini; Anna Savoia; Cristina Santoro

Characterization of a novel FLIT mutation in a family with thrombocytopenia and other congenital malformations

HAEMATOLOGICA

IF7.9

2025-11-01

OAAI

Ammeti, Daniele; Barozzi, Serena; Pecci, Alessandro; Zanchetta, Melania Eva; Cesnik, Edward; Ferlini, Alessandra; Sanchini, Mariabeatrice; Verga, Laura; Bozzi, Valeria; Corsolini, Fabio; Faleschini, Michela; Savoia, Anna; Bigoni, Stefania

Novel Biallelic Variants in CPOX Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?新型双等位基因变异在CPOX基因中，一例伴产前发病及不良新生儿结局的遗传性粪卟啉症病例：这是Harderoporphyria的潜在诊断线索？

Prenatal Diagnosis

IF2.7

2025-08-06

PREAI

Chiara Patelli; Gabriele Tonni; Maria Iascone; Anna Savoia; Giulia Rodella; Laura Pecoraro; Camilla Lucca; Ricciarda Raffaelli

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6

CELLS

IF5.2

2024-12-30

OAAI

Capaci, Valeria; Zanchetta, Melania Eva; Fontana, Giorgia; Ammeti, Daniele; Bottega, Roberta; Faleschini, Michela; Savoia, Anna

Identification of a robust DNA methylation signature for Fanconi anemia

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2023-11-01

OAAI

Pagliara, Daria; Ciolfi, Andrea; Pedace, Lucia; Haghshenas, Sadegheh; Ferilli, Marco; Levy, Michael A.; Miele, Evelina; Nardini, Claudia; Cappelletti, Camilla; Relator, Raissa; Pitisci, Angela; De Vito, Rita; Pizzi, Simone; Kerkhof, Jennifer; McConkey, Haley; Nazio, Francesca; Kant, Sarina G.; Di Donato, Maddalena; Agolini, Emanuele; Matraxia, Marta; Pasini, Barbara; Pelle, Alessandra; Galluccio, Tiziana; Novelli, Antonio; Barakat, Tahsin Stefan; Andreani, Marco; Rossi, Francesca; Mecucci, Cristina; Savoia, Anna; Sadikovic, Bekim; Locatelli, Franco; Tartaglia, Marco

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families

ANNALS OF HEMATOLOGY

IF2.4

2022-12-21

PREAI

Barozzi, Serena; Pecci, Alessandro; Marinoni, Maddalena; Fontana, Giorgia; Zanchetta, Melania Eva; Noris, Patrizia; Savoia, Anna; Faleschini, Michela

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

HAEMATOLOGICA

IF7.9

2022-12-15

OAAI

Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L.; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso

Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia

HAEMATOLOGICA

IF7.9

2022-10-13

OAAI

Capaci, Valeria; Adam, Etai; Bar-Joseph, Ifat; Faleschini, Michela; Pecci, Alessandro; Savoia, Anna

HAEMATOLOGICA

IF7.9

2022-05-19

OAAI

Faleschini, Michela; Ammeti, Daniele; Papa, Nicole; Alfano, Caterina; Bottega, Roberta; Fontana, Giorgia; Capaci, Valeria; Zanchetta, Melania E.; Pozzani, Federico; Montanari, Francesca; Petroni, Valeria; Giordano, Paola; Noris, Patrizia; Giona, Fiorina; Savoia, Anna

HAEMATOLOGICA

IF7.9

2021-11-18

OAAI

Bottega, Roberta; Marzollo, Antonio; Marinoni, Maddalena; Athanasakis, Emmanouil; Persico, Ilaria; Bianco, Anna Monica; Faleschini, Michela; Valencic, Erica; Simoncini, Daniela; Rossini, Linda; Corsolini, Fabio; La Bianca, Martina; Robustelli, Giuseppe; Gabelli, Maria; Agosti, Massimo; Biffi, Alessandra; Grotto, Paolo; Bozzi, Valeria; Noris, Patrizia; Burlina, Alberto B.; d'Adamo, Adamo Pio; Tommasini, Alberto; Faletra, Flavio; Pastore, Annalisa; Savoia, Anna

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation

HAEMATOLOGICA

IF7.9

2021-01-21

OAAI

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

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

HAEMATOLOGICA

IF7.9

2017-12-21

OAAI

Bottega, Roberta; Nicchia, Elena; Cappelli, Enrico; Ravera, Silvia; De Rocco, Daniela; Faleschini, Michela; Corsolini, Fabio; Pierri, Filomena; Calvillo, Michaela; Russo, Giovanna; Casazza, Gabriella; Ramenghi, Ugo; Farruggia, Piero; Dufour, Carlo; Savoia, Anna

Hereditary thrombocytopenia due to reduced platelet production - Report on two families and mutational screening of the thrombopoietin receptor gene (c-mpl)

THROMBOSIS AND HAEMOSTASIS

IF4.3

2017-12-14

PREAI

Tonelli, R; Strippoli, P; Grossi, A; Savoia, A; Iolascon, A; Savino, M; Teriaca, MS; Servedio, V; Morfini, M; Zelante, L; Borgna-Pignatti, C; Rosito, P; Pession, A; Paolucci, G; Bagnara, GP

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases ANKRD26基因突变致遗传性血小板减少症误诊为骨髓增生异常综合征2例

JOURNAL OF THROMBOSIS AND HAEMOSTASIS

IF5

2017-12-01

OAAI

Zaninetti, C.; Santini, V.; Tiniakou, M.; Barozzi, S.; Savoia, A.; Pecci, A.

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

EMBO MOLECULAR MEDICINE

IF8.3

2017-11-30

OAAI

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

Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia

THROMBOSIS AND HAEMOSTASIS

IF4.3

2017-11-29

PREAI

Noris, P; Guidetti, GF; Conti, V; Ceresa, IF; Di Pumpo, M; Pecci, A; Torti, M; Savoia, A; Balduini, CL

Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA

THROMBOSIS AND HAEMOSTASIS

IF4.3

2017-11-28

PREAI

Kahr, Walter H. A.; Savoia, Anna; Pluthero, Fred G.; Li, Ling; Christensen, Hilary; De Rocco, Daniela; Traivaree, Chanchai; Butchart, Sheila E.; Curtin, Julie; Stollar, Elliott J.; Forman-Kay, Julie D.; Blanchette, Victor S.

Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

THROMBOSIS AND HAEMOSTASIS

IF4.3

2017-11-22

PREAI

Gresele, Paolo; De Rocco, Daniela; Bury, Loredana; Fierro, Tiziana; Mezzasoma, Anna Maria; Pecci, Alessandro; Savoia, Anna

Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

THROMBOSIS AND HAEMOSTASIS

IF4.3

2017-11-22

OAAI

Savoia, Anna; De Rocco, Daniela; Panza, Emanuele; Bozzi, Valeria; Scandellari, Raffaella; Loffredo, Giuseppe; Mumford, Andrew; Heller, Paula G.; Noris, Patrizia; De Groot, Marco R.; Giani, Marisa; Freddi, Paolo; Scognamiglio, Francesca; Riondino, Silvia; Pujol-Moix, Nuria; Fabris, Fabrizio; Seri, Marco; Balduini, Carlo L.; Pecci, Alessandro

Mutations of RUNX1 in families with inherited thrombocytopenia

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2017-03-24

OAAI

De Rocco, Daniela; Melazzini, Federica; Marconi, Caterina; Pecci, Alessandro; Bottega, Roberta; Gnan, Chiara; Palombo, Flavia; Giordano, Paola; Coccioli, Maria Susanna; Glembotsky, Ana C.; Heller, Paula G.; Seri, Marco; Savoia, Anna; Noris, Patrizia

研究方向