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

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

1型神经纤维瘤病相关乳腺癌的亚型分布、临床表现和分子谱

Di Giosaffatte, Niccolò; Daniele, Paola; Petrizzelli, Francesco; Iacovino, Chiara; Canciani, Chiara; Garau, Maria Luisa; Santoro, Claudia; Trevisan, Valentina; Panfili, Arianna; Cavone, Stefania; Guida, Valentina; D'Asdia, Maria Cecilia; Bernardini, Laura; Majore, Silvia; Ferraris, Alessandro; Valiante, Michele; Gensini, Francesca; Radio, Francesca Clementina; Tortora, Giada; Cassina, Matteo; Miele, Giuseppina; Priolo, Manuela; Sirchia, Fabio; Piccinno, Ludovica; Flex, Elisabetta; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, Vincenzo; Salviati, Leonardo; Papi, Laura; Grammatico, Paola; Leoni, Chiara; Piluso, Giulio; Giustini, Sandra; Mazza, Tommaso; Upadhyaya, Meena; Tartaglia, Marco; Trevisson, Eva; De Luca, Alessandro

Inhibition of Muscle-Specific Protein Kinase (MuSK) Releases Organophosphate-Aged Acetylcholinesterase (AChE) from C2C12 Cells.

抑制肌肉特异性蛋白激酶(MuSK)可从 C2C12 细胞中释放有机磷酸酯老化的乙酰胆碱酯酶(AChE)。

Moncada-Restrepo Monica, Eysoldt Sarah, Medina Jeronimo, Di Guida Valentina, Chambers Jeremy W

Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease

新型ATP2A2基因突变c.118G>A导致达里尔病中角质形成细胞和心肌细胞分离

Frustaci, Andrea; De Luca, Alessandro; Verardo, Romina; Guida, Valentina; Alfarano, Maria; Calvieri, Camilla; Sansone, Luigi; Russo, Matteo Antonio; Chimenti, Cristina

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

下一代测序技术在诊断地中海贫血和血红蛋白病中的应用:意大利四个诊断中心的经验

Selvatici Rita, Guida Valentina, Maffei Massimo, Irrera Milena Agata, Margutti Alice, Bisceglia Paola, Mogni Massimo, Melchionda Erica, Stoico Giuseppina, Grifone Nicoletta, Bocciardo Laura, Salerio Simone, Nagliati Vittoria, Alberico Angela, Tringali Giusy, Melles Cristina, De Luca Alessandro, Ferlini Alessandra, Coviello Domenico, Curcio Cristina

Physiological JNK3 Concentrations Are Higher in Motor-related and Disease-implicated Brain Regions of C57BL6/J Mice

C57BL6/J小鼠运动相关和疾病相关脑区中生理性JNK3浓度较高

Godieva, Victoria; Sammoura, Ferass; Verrier Paz, Sebastian; Han, Yoonhee; Di Guida, Valentina; Rishel, Michael J; Richardson, Jason R; Chambers, Jeremy W

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

DYNC2H1相关骨骼纤毛病的临床表现多样,包括埃利斯-范克雷费尔德综合征。

Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

一名患有7q21.13-q21.3缺失(不包括DLX5/6基因)的患者出现手足分裂和耳聋

Ambrosetti, Irene; Bernardini, Laura; Pollazzon, Marzia; Giuffrida, Maria Grazia; Guida, Valentina; Peluso, Francesca; Baroni, Maria Chiara; Polizzi, Valeria; Napoli, Manuela; Rosato, Simonetta; Trimarchi, Gabriele; Gelmini, Chiara; Caraffi, Stefano Giuseppe; Wischmeijer, Anita; Frattini, Daniele; Novelli, Antonio; Garavelli, Livia

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

对 41 例眼耳脊椎谱系疾病 (OAVS) 患者进行全基因组 DNA 甲基化分析

Guida, Valentina; Calzari, Luciano; Fadda, Maria Teresa; Piceci-Sparascio, Francesca; Digilio, Maria Cristina; Bernardini, Laura; Brancati, Francesco; Mattina, Teresa; Melis, Daniela; Forzano, Francesca; Briuglia, Silvana; Mazza, Tommaso; Bianca, Sebastiano; Valente, Enza Maria; Salehi, Leila Bagherjad; Prontera, Paolo; Pagnoni, Mario; Tenconi, Romano; Dallapiccola, Bruno; Iannetti, Giorgio; Corsaro, Luigi; De Luca, Alessandro; Gentilini, Davide

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

Usher综合征中与钙网蛋白和Myo7A基因突变相关的新型扩张型心肌病

Frustaci, Andrea; De Luca, Alessandro; Galea, Nicola; Verardo, Romina; Guida, Valentina; Carrozzo, Rosalba; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo Antonio

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

白内障和关节挛缩的产前发现:脑-眼-面-骨骼综合征的复发及鉴别诊断回顾

Sirchia, Fabio; Fantasia, Ilaria; Feresin, Agnese; Giorgio, Elisa; Faletra, Flavio; Mordeglia, Denise; Barbieri, Moira; Guida, Valentina; De Luca, Alessandro; Stampalija, Tamara