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

Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion

耳面颈综合征及其与鳃耳肾谱系疾病的重叠:EYA1相关疾病的综合文献分析,包括一例8q13.2q13.3缺失的新病例

Graziani, Ludovico; Carriero, Miriam Lucia; Melchionda, Salvatore; Augello, Bartolomeo; Palumbo, Orazio; Bengala, Mario; Castori, Marco; Novelli, Giuseppe

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement

细胞遗传学和光学基因组作图方法揭示了由母源复杂染色体内重排引起的衍生间质单体性18p的特征。

Graziani, Ludovico; Genovese, Silvia; Genovesi, Maria Luce; Di Rosa, Cristiana; Di Noi, Rosalba; Loddo, Sara; Bengala, Mario; Colona, Vito Luigi; Novelli, Antonio; Novelli, Giuseppe; Alesi, Viola; Nardone, Anna Maria

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

染色质构象捕获技术在临床中的应用:4C-seq/HiC 可区分 GPR101 位点的致病性重复和中性重复

Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin

Systemic treatment of mismatch repair deficient/microsatellite instability-high metastatic colorectal cancer-single versus double checkpoint inhibition

错配修复缺陷/微卫星不稳定性高转移性结直肠癌的系统性治疗——单检查点抑制剂与双检查点抑制剂的比较

Marinelli, D; Sabatini, A; Bengala, E; Ciurluini, F; Picone, V; Santini, D; Pietrantonio, F; Rossini, D; Cremolini, C

Integrated transcriptomics and proteomics analysis reveals muscle metabolism effects of dietary Ulva lactuca and ulvan lyase supplementation in weaned piglets

整合转录组学和蛋白质组学分析揭示了日粮中添加浒苔和浒苔裂解酶对断奶仔猪肌肉代谢的影响

Ribeiro, David Miguel; Coelho, Diogo; Costa, Mónica; Carvalho, Daniela Filipa Pires; Leclercq, Céline C; Renaut, Jenny; Freire, João Pedro Bengala; Almeida, André Martinho; Mestre Prates, José António

Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports

CADASIL 患者长期使用降钙素基因相关肽受体拮抗剂 Erenumab 治疗:两例病例报告

Albanese, Maria; Pescini, Francesca; Di Bonaventura, Chiara; Iannone, Luigi Francesco; Bianchi, Silvia; Poggesi, Anna; Bengala, Mario; Mercuri, Nicola Biagio; De Cesaris, Francesco

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease

一种新的COL4A5致病变异揭示了一个家族中同时诊断出阿尔波特综合征和多囊肾病的原因

Graziani, Ludovico; Minotti, Chiara; Carriero, Miriam Lucia; Bengala, Mario; Lai, Silvia; Terracciano, Alessandra; Novelli, Antonio; Novelli, Giuseppe

Serum Biomarkers to Dynamically Predict the Risk of Cardiovascular Events in Patients under Oncologic Therapy. A Multicenter Observational Study

血清生物标志物动态预测肿瘤治疗患者心血管事件风险:一项多中心观察性研究

Provinciali, Nicoletta; Piccininno, Marco; Siri, Giacomo; Gennari, Alessandra; Antonucci, Giancarlo; Ricci, Damiano; Devoto, Emmanuela; Miceli, Roberta; Cortesi, Pietro; Pazzi, Chiara; Nanni, Oriana; Mannozzi, Francesca; Pastina, Ilaria; Messuti, Luciana; Bengala, Carmelo; Frassineti, Giovanni Luca; Cattrini, Carlo; Fava, Marianna; Buttiron Webber, Tania; Briata, Irene Maria; Corradengo, Davide; DeCensi, Andrea; Puntoni, Matteo

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

意大利一个家族中SOX10相关疾病的遗传变异:介于卡尔曼综合征和瓦尔登堡综合征之间

Graziani, Ludovico; Carriero, Miriam Lucia; Pozzi, Flavio; Minotti, Chiara; Andreadi, Aikaterini; Bellia, Alfonso; Ruta, Rosario; Bengala, Mario; Novelli, Antonio; Lauro, Davide; Novelli, Giuseppe

Efficacy of Metronomic Oral Vinorelbine, Cyclophosphamide, and Capecitabine vs Weekly Intravenous Paclitaxel in Patients With Estrogen Receptor-Positive, ERBB2-Negative Metastatic Breast Cancer: Final Results From the Phase 2 METEORA-II Randomized Clinical Trial

节拍式口服长春瑞滨、环磷酰胺和卡培他滨与每周静脉注射紫杉醇治疗雌激素受体阳性、ERBB2阴性转移性乳腺癌患者的疗效:METEORA-II II期随机临床试验的最终结果

Munzone, Elisabetta; Regan, Meredith M; Cinieri, Saverio; Montagna, Emilia; Orlando, Laura; Shi, Ruichao; Campadelli, Enrico; Gianni, Lorenzo; Palleschi, Michela; Petrelli, Fausto; Bengala, Carmelo; Generali, Daniele; Collovà, Elena; Puglisi, Fabio; Cretella, Elisabetta; Zamagni, Claudio; Chini, Claudio; Ruepp, Barbara; Loi, Sherene; Colleoni, Marco