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

Homozygous Pathogenic Variant in Elongation Factor-Like 1 (EFL1) as a Causal Factor in Shwachman-Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

巴勒斯坦一名儿童的施瓦赫曼-戴蒙德综合征2型是由延伸因子样1(EFL1)纯合致病变异引起的,并伴有明显的眼部表现。

Taha, Ibrahim; Minelli, Antonella; Danesino, Cesare; Swalmeh, Abdelrahman; Huraibat, Khalil; Al-Labadi, Liana; Obar, Rema; Beshtawi, Khaled R; Samrah, Lubna Abu; Mohammad, Yousef Awlad; Farah, Aya; Obar, Abdulrahman; Khalaf, Mutasem; Nasser, Orwa

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, (18)FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review

KMT5B相关综合征的基因型与表型关联:来自RNA测序、(18)FDG-PET、两例新病例的临床深度表型分析及文献综述的证据

Politano, Davide; Borgatti, Renato; Borgonovi, Giulia; Cistaro, Angelina; Danesino, Cesare; Fania, Piercarlo; Garghetti, Gaia; Guala, Andrea; Orlando, Isabella; Schiera, Irene Giovanna; Scotti, Claudia; Sirchia, Fabio; Romaniello, Romina; Visani, Gaia; Vurchio, Denise; Mellone, Simona; Giordano, Mara

Pleomorphic Parotid Adenoma in a Child Affected with Cri du Chat Syndrome: Clinical, Cytogenetic, and Molecular Analysis

患有猫叫综合征的儿童腮腺多形性腺瘤:临床、细胞遗传学和分子分析

Danesino, Cesare; Biglioli, Federico; Moneghini, Laura; Valli, Roberto; Olivieri, Carla; Testa, Barbara; Baldo, Chiara; Malacarne, Michela; Guala, Andrea

Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years

施瓦赫曼-戴蒙德综合征患儿0至18岁生长发育图表

Pegoraro, Anna; Bezzerri, Valentino; Tridello, Gloria; Brignole, Cecilia; Lucca, Francesca; Pintani, Emily; Danesino, Cesare; Cesaro, Simone; Fioredda, Francesca; Cipolli, Marco

Proteomic Analysis on Sequential Samples of Cystic Fluid Obtained from Human Brain Tumors

对人脑肿瘤囊液连续样本进行蛋白质组学分析

Magrassi, Lorenzo; Brambilla, Francesca; Viganò, Raffaello; Di Silvestre, Dario; Benazzi, Louise; Bellantoni, Giuseppe; Danesino, Gian Marco; Comincini, Sergio; Mauri, Pierluigi

Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome

猫叫综合征患者早期食管癌

Danesino, Cesare; Gualtierotti, Monica; Origi, Matteo; Cistaro, Angelina; Malacarne, Michela; Massidda, Matteo; Bencardino, Katia; Coviello, Domenico; Albani, Giovanni; Schiera, Irene Giovanna; Liava, Alexandra; Guala, Andrea

Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

晚发型庞贝病(LOPD)中糖原合成和分解代谢基因外显子变异的分布

De Filippi, Paola; Errichiello, Edoardo; Toscano, Antonio; Mongini, Tiziana; Moggio, Maurizio; Ravaglia, Sabrina; Filosto, Massimiliano; Servidei, Serenella; Musumeci, Olimpia; Giannini, Fabio; Piperno, Alberto; Siciliano, Gabriele; Ricci, Giulia; Di Muzio, Antonio; Rigoldi, Miriam; Tonin, Paola; Croce, Michele Giovanni; Pegoraro, Elena; Politano, Luisa; Maggi, Lorenzo; Telese, Roberta; Lerario, Alberto; Sancricca, Cristina; Vercelli, Liliana; Semplicini, Claudio; Pasanisi, Barbara; Bembi, Bruno; Dardis, Andrea; Palmieri, Ilaria; Cereda, Cristina; Valente, Enza Maria; Danesino, Cesare

Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis

儿童遗传性出血性毛细血管扩张症:聚焦遗传学和诊断

Danesino, Cesare; Cantarini, Claudia; Olivieri, Carla

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome

病例报告:除双等位基因SBDS致病变异外,EIF6杂合种系变异还与核糖体病施瓦赫曼-戴蒙德综合征患者相关

Taha, Ibrahim; Foroni, Selena; Valli, Roberto; Frattini, Annalisa; Roccia, Pamela; Porta, Giovanni; Zecca, Marco; Bergami, Elena; Cipolli, Marco; Pasquali, Francesco; Danesino, Cesare; Scotti, Claudia; Minelli, Antonella

Re-organization of the Vascular Surgery Department During the Acute Phase of the COVID19 Outbreak: Lessons Learned and Future Perspectives

新冠疫情急性期血管外科部门的重组:经验教训与未来展望

Bozzani, Antonio; Pallini, Maura; Arici, Vittorio; Tavazzi, Guido; Ticozzelli, Giulia; Franciscone, Mila Maria; Danesino, Vittorio; Mojoli, Francesco; Ragni, Franco; Sterpetti, Antonio V