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

Paroxysmal neurological spells in TANGO2 deficiency disorder: a case report and a scoping review

TANGO2 缺乏症中的阵发性神经系统症状:病例报告和范围综述

Turco, Emanuela Claudia; Pisanò, Giulia; Carestiato, Silvia; Caiazza, Laura; Piccolo, Benedetta; Fusco, Carlo; Esposito, Susanna; Pera, Maria Carmela

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder

多组学系统级整合鉴定TANGO2缺陷症的遗传修饰因子

Airoldi, Manuel; Bondi, Heather; Remori, Veronica; Carestiato, Silvia; Ferrero, Giovanni Battista; Brusco, Alfredo; Fasano, Mauro

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome

SATB2相关综合征的临床和遗传图谱不断扩展

Pullano, Verdiana; Rondot, Federico; Carelli, Ilaria; Trajkova, Slavica; Carestiato, Silvia; Cardaropoli, Simona; Carli, Diana; Biamino, Elisa; Sirchia, Fabio; Reynolds, Giuseppe; Keller, Roberto; Shukarova-Angelovska, Elena; Ferrero, Giovanni Battista; Brusco, Alfredo; Mussa, Alessandro

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations

EP300基因第20外显子跳跃:一种与鲁宾斯坦-泰比综合征相关的新型变异,具有非典型和严重的临床表现

Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo

A systematic review and meta-analysis of GFAP gene variants in Alexander disease

对亚历山大病中GFAP基因变异的系统评价和荟萃分析

Grossi, Alice; Rosamilia, Francesca; Carestiato, Silvia; Salsano, Ettore; Ceccherini, Isabella; Bachetti, Tiziana

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity

对神经发育障碍患者进行DNA甲基化分析,可以提高变异解读的准确性并揭示其复杂性。

Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.

未解决的神经发育疾病病例中 X 染色体失活偏倚可指导对 X 连锁基因的重新评估

Giovenino Chiara, Trajkova Slavica, Pavinato Lisa, Cardaropoli Simona, Pullano Verdiana, Ferrero Enza, Sukarova-Angelovska Elena, Carestiato Silvia, Salmin Paola, Rinninella Antonina, Battaglia Anthony, Bertoli Luca, Fadda Antonio, Palermo Flavia, Carli Diana, Mussa Alessandro, Dimartino Paola, Bruselles Alessandro, Froukh Tawfiq, Mandrile Giorgia, Pasini Barbara, De Rubeis Silvia, Buxbaum Joseph D, Pippucci Tommaso, Tartaglia Marco, Rossato Marzia, Delledonne Massimo, Ferrero Giovanni Battista, Brusco Alfredo