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

Deformed Wing Virus infection induces immunosuppression and gut dysbiosis in honey bees

畸形翅病毒感染会导致蜜蜂免疫抑制和肠道菌群失调

Becchimanzi, Andrea; De Leva, Giovanna; Cacace, Alfonso; Di Lelio, Ilaria; Damiani, Claudia; Digilio, Maria Cristina; Caprio, Emilio; Favia, Guido; Pennacchio, Francesco

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities

分析语言能力极低的自闭症儿童和青少年的基因谱

Guerrera, Silvia; Venezia, Ilaria; Logrieco, Maria Grazia; Casula, Laura; Capolino, Rossella; Digilio, Maria Cristina; Dentici, Maria Lisa; Macchiaiolo, Marina; Casciani, Federico; Cortellessa, Fabiana; Sinibaldi, Lorenzo; Bartuli, Andrea; Di Tommaso, Silvia; D'Elia, Gemma; Alesi, Viola; Roberti, Cristina; Novelli, Antonio; Valeri, Giovanni; Vicari, Stefano

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies

进一步探索TRRAP基因型-表型相关性:三例新患者的报告,重点关注骨骼异常

Minotti, Chiara; Terreri, Sara; Del Fattore, Andrea; Lepri, Francesca Romana; Ruta, Rosario; Iascone, Maria; Pezzoli, Laura; Dentici, Maria Lisa; Novelli, Antonio; Armando, Michelina; Longo, Daniela; Novelli, Giuseppe; Barbuti, Domenico; Bartuli, Andrea; Cavallari, Ugo; Graziani, Ludovico; Digilio, Maria Cristina; Sinibaldi, Lorenzo

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions

远端22q11.22-23染色体缺失个体先天性心脏病的患病率和谱系

Nelson, Tanner J; McGinn, Daniel E; Crowley, T Blaine; Rockart, Lydia; Green, Audrey; Giunta, Victoria; Tran, Oanh; Miller, Daniella; Breckpot, Jeroen; Swillen, Ann; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Pulvirenti, Federica; Marino, Bruno; Emanuel, Beverly S; Zackai, Elaine H; Zhang, Zhengdong D; Goldmuntz, Elizabeth; Boot, Erik; Bassett, Anne S; Morrow, Bernice E; McDonald-McGinn, Donna M

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Solvent-Free procedure of an A9 Peptide Dimer Exhibiting Specific HER2 Receptor Binding: Fluorescence Spectroscopy Evaluation of the Enhanced Binding Affinity

一种具有特异性HER2受体结合能力的A9肽二聚体的无溶剂合成方法:荧光光谱法评估其增强的结合亲和力

Verdoliva, Valentina; Digilio, Giuseppe; Iaccarino, Emanuela; Luca, Stefania De

Neonatal diabetes-associated missense PDX1 variant disrupts chromatin association and protein-protein interaction.

与新生儿糖尿病相关的PDX1错义变异会破坏染色质关联和蛋白质-蛋白质相互作用

Yang Xiaodun, Zanfardino Angela, Schiaffini Riccardo, Ishibashi Jeff, Daniel Bareket, Haemmerle Matthew W, Rapini Novella, Piscopo Alessia, Miraglia Del Giudice Emanuele, Digilio Maria Cristina, Iorio Raffaele, Mucciolo Mafalda, Cianfarani Stefano, Iafusco Dario, Barbetti Fabrizio, Stoffers Doris A

Green Synthesis of a Hyaluronan-Based Multimeric A9 Peptide System: Polysaccharide-A9 Conjugate with Enhanced HER2 Receptor Binding Affinity and Potential Biomedical Applications as an Active Material

基于透明质酸的多聚体A9肽体系的绿色合成:具有增强的HER2受体结合亲和力的多糖-A9缀合物及其作为活性材料的潜在生物医学应用

Verdoliva, Valentina; Pulvirenti, Alfio; Digilio, Giuseppe; De Luca, Stefania

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement

进一步证据表明,RNU4ATAC 变异可导致伴有骨骼受累的 Joubert 综合征。

D'Abrusco, Fulvio; Gana, Simone; Alfei, Enrico; Scarano, Emanuela; Nicita, Francesco; Bertini, Enrico Silvio; Digilio, Maria Cristina; Zanni, Ginevra; Barbuti, Domenico; Carlicchi, Eleonora; Pichiecchio, Anna; D'Arrigo, Stefano; Serpieri, Valentina; Valente, Enza Maria

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders

先天性膈疝和关节松弛:与遗传性结缔组织疾病的潜在联系

Di Pede, Alessandra; Magliozzi, Monia; Valfré, Laura; Dentici, Maria Lisa; Pugnaloni, Flaminia; Alesi, Viola; Conforti, Andrea; Capolupo, Irma; Braguglia, Annabella; Dotta, Andrea; Bagolan, Pietro; Novelli, Antonio; Digilio, Maria Cristina