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

Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome

钠-葡萄糖协同转运蛋白-2抑制剂在成人阿尔波特综合征患者中的应用

Toso, Diego; Cinquina, Valeria; Econimo, Laura; Cortinovis, Roberta; Zeni, Letizia; Tornambè, Vittoria; Dordoni, Chiara; Ritelli, Marco; Savoldi, Gianfranco; Mazza, Cinzia; Scolari, Francesco; Alberici, Federico; Izzi, Claudia

Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

基于邻近延伸分析的血清蛋白质组学分析可识别高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍的共同蛋白质特征。

Cinquina, Valeria; Carini, Giulia; Chiarelli, Nicola; Vezzoli, Marika; Bertini, Valeria; Venturini, Marina; Gandy, Woodrow; Colombi, Marina; Ritelli, Marco

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome

血管型埃勒斯-当洛斯综合征和2q32染色体微缺失综合征

Green, Claire E; Albaba, Shadi; Sobey, Glenda J; Bowen, Jessica M; Donnelly, Deirdre E; Colombi, Marina; Ritelli, Marco; Melville, Athalie; Ghali, Neeti; van Dijk, Fleur S; Hobson, Emma; Radley, Jessica A; Kinning, Esther; Dixit, Abhijit; McCullough, Simon; Baker, Duncan; Johnson, Diana S

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

血管型埃勒斯-当洛斯综合征的整合多组学方法:通过对患者真皮成纤维细胞进行蛋白质组学分析,进一步深入了解疾病机制

Chiarelli Nicola, Cinquina Valeria, Zoppi Nicoletta, Bertini Valeria, Maddaluno Marianna, De Leonibus Chiara, Settembre Carmine, Venturini Marina, Colombi Marina, Ritelli Marco

Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention

血管型埃勒斯-当洛斯综合征的医学治疗现状及未来展望:聚焦血管预防

Buso, Giacomo; Corvini, Federica; Fusco, Elena Maria; Messina, Massimiliano; Cherubini, Fabio; Laera, Nicola; Paini, Anna; Salvetti, Massimo; De Ciuceis, Carolina; Ritelli, Marco; Venturini, Marina; Chiarelli, Nicola; Colombi, Marina; Muiesan, Maria Lorenza

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

TGFBR1倒数第二个外显子中的截断变异体逃脱了无义介导的mRNA降解,导致Loeys-Dietz综合征。

Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms

对患有高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍患者的真皮成纤维细胞进行RNA测序,支持将它们归类为单一实体,并涉及细胞外基质降解和促炎性发病机制。

Ritelli, Marco; Chiarelli, Nicola; Cinquina, Valeria; Zoppi, Nicoletta; Bertini, Valeria; Venturini, Marina; Colombi, Marina

Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders

遗传性α-胰蛋白酶血症会改变先天性关节过度活动症患者的临床表型

Vazquez, Maribel; Chovanec, Jack; Kim, Jiwon; DiMaggio, Thomas; Milner, Joshua D; Francomano, Clair A; Gurnett, Christina A; Ritelli, Marco; Colombi, Marina; Lyons, Jonathan J

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

PURA综合征表型扩展:一名携带复发性PURA p.(Phe233del)致病变异的儿童表现出与皮肤松弛症的相似性

Cinquina, Valeria; Ciaccio, Claudia; Venturini, Marina; Masson, Riccardo; Ritelli, Marco; Colombi, Marina

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

75例经典埃勒斯-当洛斯综合征患者的多系统表现:自然病史和疾病分类学视角

Ritelli, Marco; Venturini, Marina; Cinquina, Valeria; Chiarelli, Nicola; Colombi, Marina