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

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

Transcriptomic and Proteomic Changes in the Brain Along with Increasing Phenotypic Severity in a Rat Model of Neonatal Hyperbilirubinemia

新生儿高胆红素血症大鼠模型中,随着表型严重程度的增加,大脑的转录组和蛋白质组也发生改变

Llido, John Paul; Valerio, Giorgia; Křepelka, David; Dvořák, Aleš; Bottin, Cristina; Zanconati, Fabrizio; Regalado, Julia Theresa; Franceschi Biagioni, Audrey; Qaisiya, Mohammed; Vítek, Libor; Tiribelli, Claudio; Gazzin, Silvia

Understanding the Pre-Clinical Stages of Parkinson's Disease: Where Are We in Clinical and Research Settings?

了解帕金森病的临床前阶段:我们在临床和研究方面处于什么阶段?

Dalla Verde, Camilla; Jayanti, Sri; El Khobar, Korri; Stanford, John A; Tiribelli, Claudio; Gazzin, Silvia

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

努南综合征及其他RAS病临床和分子特征的最新进展:一项回顾性研究和系统评价

Reynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment

硫胺素代谢功能障碍综合征5的广泛表型谱及其治疗

Dallan, Alice; Reynolds, Giuseppe; Canavese, Carlotta; Carli, Diana; Luca, Maria; Gazzin, Andrea; Spada, Marco; Porta, Francesco; Mussa, Alessandro

Impact of a High-Fat High-Carbohydrate (HFHC) Diet at a Young Age on Steroid Hormone Hair Concentrations in Mice: A Comparison with a Control Diet and Nutraceutical Supplementation

幼年时期高脂肪高碳水化合物(HFHC)饮食对小鼠毛发中类固醇激素浓度的影响:与对照饮食和营养补充剂的比较

Pividori, Isabella; Peric, Tanja; Comin, Antonella; Rosso, Natalia; Gazzin, Silvia; Corazzin, Mirco; Prandi, Alberto

Genetic Predisposition and Genetic Resilience Factors in Stress-Related Disorders During the Developmental Age: A Narrative Review

发育期应激相关障碍的遗传易感性和遗传韧性因素:叙述性综述

Raffagnato, Alessia; Raicich, Arianna; Paiusco, Lisa; Coser, Giulia; Bonemazzi, Ilaria; Gazzin, Andrea; Pelizza, Maria Federica; Ancora, Caterina; Toldo, Irene

Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition

侧向过度生长和基因型驱动的组织组成的定量分析

Gazzin, Andrea; Reynolds, Giuseppe; Allegro, Damiano; Rossi, Davide; Sciandra, Francesca; Afkhami, Hirad Akberi; Cardaropoli, Simona; Piglionica, Marilidia; Resta, Nicoletta; Di Stefano, Marco; Mussa, Alessandro

Gender Differences in the Impact of a High-Fat, High-Sugar Diet in Skeletal Muscles of Young Female and Male Mice

高脂高糖饮食对年轻雌雄小鼠骨骼肌影响的性别差异

Toniolo, Luana; Gazzin, Silvia; Rosso, Natalia; Giraudi, Pablo; Bonazza, Deborah; Concato, Monica; Zanconati, Fabrizio; Tiribelli, Claudio; Giacomello, Emiliana

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

明确携带 RAF1:c.770C>T p.(Ser257Leu) 变异的 Noonan 综合征患者的变异-表型相关性

Gazzin, Andrea; Fornari, Federico; Niceta, Marcello; Leoni, Chiara; Dentici, Maria Lisa; Carli, Diana; Villar, Anna Maria; Calcagni, Giulio; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Airulo, Elena; Daniele, Paola; Monda, Emanuele; Limongelli, Giuseppe; Riggi, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; De Luca, Alessandro; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro