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

Gene Panel Approach to Screen for Hereditary Cerebral Small Vessel Disease: A Proof-of-Concept Study

基因检测方法在遗传性脑小血管病筛查中的应用:概念验证研究

Ferraro, Chiara; Giliani, Silvia; Pezzini, Alessandro

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

对人类 RAG 缺陷的多组学分析揭示了独特的免疫失调模式,但具有共同的炎症特征。

Bosticardo Marita, Dobbs Kerry, Delmonte Ottavia M, Martins Andrew J, Pala Francesca, Kawai Tomoki, Kenney Heather, Magro Gloria, Rosen Lindsey B, Yamazaki Yasuhiro, Yu Hsin-Hui, Calzoni Enrica, Lee Yu Nee, Liu Can, Stoddard Jennifer, Niemela Julie, Fink Danielle, Castagnoli Riccardo, Ramba Meredith, Cheng Aristine, Riley Deanna, Oikonomou Vasileios, Shaw Elana, Belaid Brahim, Keles Sevgi, Al-Herz Waleed, Cancrini Caterina, Cifaldi Cristina, Baris Safa, Sharapova Svetlana, Schuetz Catharina, Gennery Andrew R, Freeman Alexandra F, Somech Raz, Choo Sharon, Giliani Silvia C, Güngör Tayfun, Drozdov Daniel, Meyts Isabelle, Moshous Despina, Neven Benedicte, Abraham Roshini S, El-Marsafy Aisha, Kanariou Maria, King Alejandra, Licciardi Francesco, Cruz-Muñoz Mario E, Palma Paolo, Poli Cecilia, Adeli Mehdi, Algeri Mattia, Alroqi Fayhan J, Bastard Paul, Bergerson Jenna R E, Booth Claire, Brett Ana, Burns Siobhan O, Butte Manish J, Padem Nurcicek, de la Morena M, Dbaibo Ghassan, de Ravin Suk See, Dimitrova Dimana, Djidjik Reda, Dorna Mayra B, Dutmer Cullen M, Elfeky Reem, Facchetti Fabio, Fuleihan Ramsay L, Geha Raif S, Gonzalez-Granado Luis I, Haljasmägi Liis, Ale Hanadys, Hayward Anthony, Hifanova Anna M, Ip Winnie, Kaplan Blanka, Kapoor Neena, Karakoc-Aydiner Elif, Kärner Jaanika, Keller Michael D, Dávila Saldaña Blachy J, Kiykim Ayça, Kuijpers Taco W, Kuznetsova Elena E, Latysheva Elena A, Leiding Jennifer W, Locatelli Franco, Alva-Lozada Guisela, McCusker Christine, Celmeli Fatih, Morsheimer Megan, Ozen Ahmet, Parvaneh Nima, Pasic Srdjan, Plebani Alessandro, Preece Kahn, Prockop Susan, Sakovich Inga S, Starkova Elena E, Torgerson Troy, Verbsky James, Walter Jolan E, Ward Brant, Wisner Elizabeth L, Draper Deborah, Myint-Hpu Katherine, Truong Pooi M, Lionakis Michail S, Similuk Morgan B, Walkiewicz Magdalena A, Klion Amy, Holland Steven M, Oguz Cihan, Bogunovic Dusan, Kisand Kai, Su Helen C, Tsang John S, Kuhns Douglas, Villa Anna, Rosenzweig Sergio D, Pittaluga Stefania, Notarangelo Luigi D

Long-term outcome in Wiskott-Aldrich syndrome and X-linked thrombocytopenia patients: an observational -prospective multi-center study of the Italian Primary Immune Deficiency Network (IPINET)

Wiskott-Aldrich 综合征和 X 连锁血小板减少症患者的长期预后:意大利原发性免疫缺陷网络 (IPINET) 的一项观察性前瞻性多中心研究

Soresina, Annarosa; Rondelli, Roberto; Notarangelo, Lucia Dora; Locatelli, Franco; Aiuti, Alessandro; Biffi, Alessandra; Rabusin, Marco; Pignata, Claudio; Menna, Giuseppe; Prete, Arcangelo; Faraci, Maura; Rovelli, Attilio; Conti, Francesca; Bertolini, Patrizia; Azzari, Chiara; Cancrini, Caterina; Zecca, Marco; Ferrua, Francesca; Cicalese, Maria Pia; Cecere, Francesco; Dotta, Laura; Martire, Baldassarre; Giliani, Silvia; Moratto, Daniele; Mazza, Cinzia; Plebani, Alessandro; Notarangelo, Luigi D; Pession, Andrea; Badolato, Raffaele; Fulvio, Fulvio

Pharmacological evaluation of drug therapies in Aicardi-Goutières syndrome: insights from patient-derived neural stem cells.

Aicardi-Goutières 综合征药物治疗的药理学评价:来自患者来源的神经干细胞的启示

Braidotti Stefania, Ferraro Rosalba Monica, Franca Raffaella, Genova Elena, Giambuzzi Francesco, Mancini Andrea, Marinozzi Valentina, Pugnetti Letizia, Zudeh Giulia, Tesser Alessandra, Tommasini Alberto, Decorti Giuliana, Giliani Silvia Clara, Stocco Gabriele

Assessment of Chronic Myeloid Leukaemia In Vitro Models Variability: Insights Into Extracellular Vesicles

慢性粒细胞白血病体外模型变异性评估:对细胞外囊泡的深入了解

Mutti, Silvia; Cavalleri, Alessia; Federici, Stefania; Mangolini, Valentina; Paolini, Lucia; Bonvicini, Cristian; Ferraro, Rosalba Monica; Mazzoldi, Elena Laura; Garuffo, Luca; Xhahysa, Besjana; Leoni, Alessandro; Trenta, Federica; Re, Federica; Giliani, Silvia Clara; Avenoso, Daniele; Farina, Mirko; Malagola, Michele; Russo, Domenico; Bernardi, Simona

Different In Vitro Models of Chronic Myeloid Leukemia Show Different Characteristics: Biological Replicates Are Not Biologically Equivalent

不同的慢性粒细胞白血病体外模型表现出不同的特征:生物学重复模型并不具有生物学等效性

Cavalleri, Alessia; Xhahysa, Besjana; Mutti, Silvia; Ferraro, Rosalba Monica; Mazzoldi, Elena Laura; Farina, Mirko; Leoni, Alessandro; Garuffo, Luca; Trenta, Federica; Re, Federica; Radici, Vera; Buttini, Eugenia Accorsi; Morello, Enrico; Magliano, Gabriele; Cancelli, Valeria; Giliani, Silvia Clara; Malagola, Michele; Russo, Domenico; Bernardi, Simona

Differentiation of human hyalocytes from induced pluripotent stem cells through ascorbic acid treatment.

利用抗坏血酸处理诱导多能干细胞分化为人类透明细胞

Mazzoldi Elena Laura, Benini Gabriele, Ferraro Rosalba Monica, Micheletti Moira, Martellosio Giovanni, Balduchelli Viola, Sacristani Piergiuseppe, Lussignoli Daniele, Semeraro Francesco, Rezzola Sara, Presta Marco, Bergandi Loredana, Meduri Alessandro, Giliani Silvia Clara

Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.

猫叫综合征神经干细胞的建立和表征:一种研究该综合征的新型有前景的资源

Piovani Giovanna, Ferraro Rosalba Monica, Giliani Silvia Clara

Germline testing of Iranian families suspected of Lynch syndrome: molecular characterization and current surveillance of families with pathogenic variants in MSH2 , MSH6 , and PMS2

对疑似林奇综合征的伊朗家庭进行种系检测:MSH2、MSH6 和 PMS2 致病变异家庭的分子特征和当前监测

Sina, Mohammad; Zarinfam, Shiva; Giliani, Silvia Clara; Poliani, Pietro Luigi; Majidzadeh-A, Keivan

Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib

STAT1 功能获得性突变患者表现出细胞凋亡增加,而 JAK 抑制剂鲁索替尼可逆转这一现象。

Dotta, Laura; Todaro, Francesca; Baronio, Manuela; Giacomelli, Mauro; Pinelli, Marinella; Giambarda, Martina; Brognoli, Beatrice; Greco, Silvia; Rota, Francesca; Cortesi, Manuela; Soresina, Annarosa; Moratto, Daniele; Tomasi, Cesare; Ferraro, Rosalba Monica; Giliani, Silvia; Badolato, Raffaele