日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Application of machine learning in the diagnostic work-up of telomere biology disorders

机器学习在端粒生物学疾病诊断中的应用

Massaccesi, Erika; Arcuri, Luca; Cavalca, Giacomo; Beier, Fabian; Vankann, Lucia; Lupia, Michela; Cangelosi, Davide; Grossi, Alice; Lanciotti, Marina; Pierri, Filomena; Fioredda, Francesca; Miano, Maurizio; Dell'Orso, Gianluca; Giarratana, Maria Carla; Guardo, Daniela; Bagnasco, Francesca; Pestarino, Sara; Binelli, Maria; Tometten, Mareike; Meyer, Robert; Frenzel, Fanny; Coviello, Domenico; Mariani, Eugenia; Palmisani, Elena; Kainat, Saba; Ceccherini, Isabella; Uva, Paolo; Brümmendorf, Tim Henrik; Dufour, Carlo

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome

DNA甲基化表观遗传特征作为Diamond-Blackfan贫血综合征的新型诊断工具

Quarello, Paola; Karimi, Karim; Trajkova, Slavica; Garelli, Emanuela; Samadieh, Mehdi; Iovino, Emanuela; Pippucci, Tommaso; Papagni, Giovanni; Dalfonso, Sandra; Corrado, Lucia; Rizzo, Serena; Carando, Adriana; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Levy, Michael; Zecca, Marco; Fioredda, Francesca; Barone, Angelica; Cesaro, Simone; Gabelli, Maria; Torchio, Francesca; Zucchetti, Giulia; Cantarini, Maria Elena; Corti, Paola; Ramenghi, Ugo; Locatelli, Franco; Fagioli, Franca; Sadikovic, Bekim; Brusco, Alfredo

Leukemic Regression After G-CSF Withdrawal in Severe Congenital Neutropenia

严重先天性中性粒细胞减少症停用粒细胞集落刺激因子后白血病消退

Roveta, Agnese; Trambusti, Irene; Tellini, Marco; Giunti, Laura; Fioredda, Francesca; Tintori, Veronica; Tondo, Annalisa; Pegoraro, Francesco; Veltroni, Marinella

European guidelines on treatment and supportive measures in chronic neutropenias: A consensus between the European Hematology Association and the EuNet-INNOCHRON COST Action based on a systematic evidence review

欧洲慢性中性粒细胞减少症治疗和支持措施指南:欧洲血液学协会和EuNet-INNOCHRON COST行动基于系统性证据综述达成的共识

Fioredda, Francesca; Spanoudakis, Michail; Skokowa, Julia; Tamary, Hannah; Farruggia, Piero; Almeida, Antonio; Guardo, Daniela; Palmblad, Jan; Höglund, Petter; Touw, Ivo P; Zeidler, Cornelia; Warren, Alan J; Csenar, Mario; Skoetz, Nicole; Castagnola, Elio; Ricci, Erica; Dale, David C; Newburger, Peter E; Welte, Karl; Papadaki, Helen A; Dufour, Carlo

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.

开发转化阅读通读诱导药物作为范可尼贫血患者的新型治疗选择

Hristodor Anca Manuela, Cappelli Enrico, Baldisseri Elena, Valli Roberto, Montalbano Giuseppe, Micheloni Giovanni, Porta Giovanni, Frattini Annalisa, Ravera Silvia, Fioredda Francesca, Lippi Giuseppe, Dufour Carlo, Cipolli Marco, Bezzerri Valentino

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults

儿童非缓解性中性粒细胞减少症和成人慢性特发性中性粒细胞减少症的遗传图谱

Grossi, Alice; Tsaknakis, Grigorios; Rosamilia, Francesca; Rusmini, Marta; Uva, Paolo; Ceccherini, Isabella; Giarratana, Maria Carla; Vozzi, Diego; Mavroudi, Irene; Dufour, Carlo; Papadaki, Helen A; Fioredda, Francesca

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

涉及 ANKRD26 的染色体缺失导致融合蛋白的表达,该融合蛋白是 ANKRD26 相关血小板减少症的罪魁祸首

Dell'Orso Gianluca, Passarella Tommaso, Cappato Serena, Cappelli Enrico, Regis Stefano, Maffei Massimo, Balbi Matilde, Ravera Silvia, Di Martino Daniela, Viaggi Silvia, Davì Sabrina, Corsolini Fabio, Giarratana Maria Carla, Arcuri Luca, Mariani Eugenia, Morini Riccardo, Massaccesi Erika, Guardo Daniela, Calvillo Michaela, Palmisani Elena, Coviello Domenico, Fioredda Francesca, Dufour Carlo, Bocciardi Renata, Miano Maurizio

Visceral Leishmaniasis in Pediatrics: A Case Series and a Narrative Review with Global Insights

儿童内脏利什曼病:病例系列及叙述性综述与全球视角

Andreottola, Valentina; Santucci, Chiara; Bellini, Tommaso; Matarese, Simona; Canzoneri, Francesca; Dell'Orso, Gianluca; Finetti, Martina; Fioredda, Francesca; Mesini, Alessio; Piccotti, Emanuela

Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus

接受吗替麦考酚酯和西罗莫司治疗的自身免疫性血细胞减少症和免疫失调患者的感染风险

Comella, Mattia; Palmisani, Elena; Mariani, Marcello; Dell'Orso, Gianluca; Licciardello, Maria; Giarratana, Maria Carla; Arcuri, Luca; Pestarino, Sara; Grossi, Alice; Lanciotti, Marina; Brucci, Giorgia; Guardo, Daniela; Russo, Giovanna; Dufour, Carlo; Fioredda, Francesca; Castagnola, Elio; Miano, Maurizio

Liver disease and transplantation in telomere biology disorders: An international multicenter cohort

端粒生物学疾病中的肝病和肝移植:一项国际多中心队列研究

Wang, YunZu Michele; Kaj-Carbaidwala, Batul; Lane, Adam; Agarwal, Suneet; Beier, Fabian; Bertuch, Alison; Borovsky, Kristin A; Brennan, Steven K; Calado, Rodrigo T; Catto, Luiz Fernando B; Dufour, Carlo; Ebens, Christen L; Fioredda, Francesca; Giri, Neelam; Gloude, Nicholas; Goldman, Frederick; Hertel, Paula M; Himes, Ryan; Keel, Sioban B; Koura, Divya T; Kratz, Christian P; Kulkarni, Sakil; Liou, Iris; Nakano, Taizo A; Nastasio, Silvia; Niewisch, Marena R; Penrice, Daniel D; Sasa, Ghadir S; Savage, Sharon A; Simonetto, Douglas A; Ziegler, David S; Miethke, Alexander G; Myers, Kasiani C