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

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

非孤立性法洛四联症(TOF+):外显子组测序效率和表型扩展

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Scott, Daryl A

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

RAF1相关努南综合征中特定区域的表型特征

Gazzin, Andrea; Calvo, Marta; Rondot, Federico; Reynolds, Giuseppe; Leoni, Chiara; Niceta, Marcello; Dentici, Maria Lisa; Digilio, Maria Cristina; Lepri, Francesca; Monda, Emanuele; Carelli, Ilaria; Trevisson, Eva; Scala, Iris; Mancano, Giorgia; Andreucci, Elena; Stanzial, Franco; Brancati, Francesco; Zampino, Giuseppe; Tarani, Luigi; Paparella, Roberto; Carli, Diana; Villar, Anna Maria; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Daniele, Paola; Airulo, Elena; Riggi, Chiara; Calcagni, Giulio; Ferrero, Giovanni Battista; Limongelli, Giuseppe; De Luca, Alessandro; Tartaglia, Marco; Mussa, Alessandro

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

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

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

Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study

努南综合征生长曲线和基因型:一项为期15年的单中心纵向研究

Cappa, Marco; Cappa, Marco; d'Aniello, Francesco; Digilio, Maria Cristina; Gagliardi, Maria Giulia; Minotti, Chiara; Leoncini, Pier Paolo; Pietropoli, Alberto; Nicolucci, Antonio; Graziano, Giusi; Ubertini, Graziamaria

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features

Shashi-Pena综合征的临床变异性:一种与过度生长和轻微神经发育特征相关的新型ASXL2变异

Minotti, Chiara; Graziani, Ludovico; Micalizzi, Alessia; Dentici, Maria Lisa; Capolino, Rossella; Sinibaldi, Lorenzo; Lanari, Valentina; Dallapiccola, Bruno; Novelli, Giuseppe; Novelli, Antonio; Digilio, Maria Cristina