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

A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

一名女孩携带GNAS基因的新型杂合错义变异(p.Ile56Phe),表现出复杂的表型。

Cavarzere, Paolo; Gastaldi, Andrea; Elli, Francesca Marta; Gaudino, Rossella; Peverelli, Erika; Brugnara, Milena; Thiele, Susanne; Granata, Francesca; Mantovani, Giovanna; Antoniazzi, Franco

Correction to: A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

更正:一名女孩携带GNAS基因新型杂合错义变异(p.Ile56Phe)后表现出复杂的表型

Cavarzere, Paolo; Gastaldi, Andrea; Elli, Francesca Marta; Gaudino, Rossella; Peverelli, Erika; Brugnara, Milena; Thiele, Susanne; Granata, Francesca; Mantovani, Giovanna; Antoniazzi, Franco

Fibroblast growth factor 23 level modulates the hepatocyte's alpha-2-HS-glycoprotein transcription through the inflammatory pathway TNFα/NFκB.

成纤维细胞生长因子 23 水平通过炎症通路 TNFα/NFαB 调节肝细胞 α-2-HS-糖蛋白的转录

Mattinzoli Deborah, Li Min, Castellano Giuseppe, Ikehata Masami, Armelloni Silvia, Elli Francesca Marta, Molinari Paolo, Tsugawa Koji, Alfieri Carlo Maria, Messa Piergiorgio

Improved Molecular Diagnosis of McCune-Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR

利用数字PCR技术改进McCune-Albright综合征和骨纤维发育不良的分子诊断

Elli, Francesca Marta; de Sanctis, Luisa; Bergallo, Massimiliano; Maffini, Maria Antonia; Pirelli, Arianna; Galliano, Ilaria; Bordogna, Paolo; Arosio, Maura; Mantovani, Giovanna

Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B

假性甲状旁腺功能减退症 1A 型和 1B 型中的高降钙素血症

Yavropoulou, Maria P; Chronopoulos, Efstathios; Trovas, George; Avramidis, Emmanouil; Elli, Francesca Marta; Mantovani, Giovanna; Zebekakis, Pantelis; Yovos, John G

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

与1B型假性甲状旁腺功能减退症相关的GNAS甲基化缺陷嵌合现象出现在受精后早期阶段。

Elli, Francesca Marta; Bordogna, Paolo; Arosio, Maura; Spada, Anna; Mantovani, Giovanna