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

RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder

对性别和年龄匹配的自闭症谱系障碍同胞血液进行RNA测序,证实了自闭症谱系障碍中存在免疫和转录失调。

Tomaiuolo, Pasquale; Piras, Ignazio Stefano; Sain, Simona Baghai; Picinelli, Chiara; Baccarin, Marco; Castronovo, Paola; Morelli, Marco J; Lazarevic, Dejan; Scattoni, Maria Luisa; Tonon, Giovanni; Persico, Antonio M

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder

染色体微阵列分析在自闭症谱系障碍诊断中的应用价值和临床意义

Cucinotta, Francesca; Lintas, Carla; Tomaiuolo, Pasquale; Baccarin, Marco; Picinelli, Chiara; Castronovo, Paola; Sacco, Roberto; Piras, Ignazio Stefano; Turriziani, Laura; Ricciardello, Arianna; Scattoni, Maria Luisa; Persico, Antonio M

Cider apple pomace as a source of nutrients: Evaluation of the polyphenolic profile, antioxidant and fiber properties after drying process at different temperatures

苹果渣作为营养来源:不同温度下干燥后多酚含量、抗氧化性和纤维特性的评价

Llavata, B; Picinelli, A; Simal, S; Cárcel, J A

Yield of array-CGH analysis in Tunisian children with autism spectrum disorder

突尼斯自闭症谱系障碍儿童的阵列比较基因组杂交分析结果

Chehbani, Fethia; Tomaiuolo, Pasquale; Picinelli, Chiara; Baccarin, Marco; Castronovo, Paola; Scattoni, Maria Luisa; Gaddour, Naoufel; Persico, Antonio M

FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family

在多重家族中,FARP-1 缺失与早期丹佛模型自闭症治疗无反应相关

Cucinotta, Francesca; Ricciardello, Arianna; Turriziani, Laura; Calabrese, Giorgia; Briguglio, Marilena; Boncoddo, Maria; Bellomo, Fabiana; Tomaiuolo, Pasquale; Martines, Silvia; Bruschetta, Marianna; La Fauci Belponer, Francesca; Di Bella, Tiziana; Colombi, Costanza; Baccarin, Marco; Picinelli, Chiara; Castronovo, Paola; Lintas, Carla; Sacco, Roberto; Biederer, Thomas; Kellam, Barbara; Scherer, Stephen W; Persico, Antonio M

An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient

高功能自闭症患者中涉及 CDK5R1 基因的 17q11.2 间质新生缺失

Lintas, Carla; Sacco, Roberto; Tabolacci, Claudio; Brogna, Claudia; Canali, Marco; Picinelli, Chiara; Tomaiuolo, Pasquale; Castronovo, Paola; Baccarin, Marco; Persico, Antonio M

Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

Xp22.33p22.12重复与智力障碍和面部畸形特征有关

Lintas, Carla; Picinelli, Chiara; Piras, Ignazio S; Sacco, Roberto; Gabriele, Stefano; Verdecchia, Magda; Persico, Antonio M

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

局灶节段性肾小球硬化症和多发性原始肿瘤患者发生 FBXW7 基因结构性新生缺失

Gaia Roversi, Chiara Picinelli, Ilaria Bestetti, Milena Crippa, Daniela Perotti, Sara Ciceri, Fabiana Saccheri, Paola Collini, Pietro L Poliani, Serena Catania, Bernard Peissel, Fabio Pagni, Silvia Russo, Paolo Peterlongo, Siranoush Manoukian, Palma Finelli

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

女性 Cornelia de Lange 综合征患者和健康对照者中 SMC1A 基因的总体和等位基因特异性表达

Ilaria Parenti, Davide Rovina, Maura Masciadri, Anna Cereda, Jacopo Azzollini, Chiara Picinelli, Giuseppe Limongelli, Palma Finelli, Angelo Selicorni, Silvia Russo, Cristina Gervasini, Lidia Larizza

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

一例新的毛指骨综合征样表型病例,伴有新生t(2;8)(p16.1;q23.3)易位,该易位不破坏TRPS1基因。

Crippa, Milena; Bestetti, Ilaria; Perotti, Mario; Castronovo, Chiara; Tabano, Silvia; Picinelli, Chiara; Grassi, Guido; Larizza, Lidia; Pincelli, Angela Ida; Finelli, Palma