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

In silico and in vivo analyses of a novel variant in MYO6 identified in a family with postlingual non-syndromic hearing loss from Argentina.

对阿根廷一个患有后天性非综合征性听力损失的家庭中发现的 MYO6 的新变异进行计算机模拟和体内分析

期刊:NAR Genomics and Bioinformatics
影响因子:2.8
doi:10.1093/nargab/lqae162
Buonfiglio Paula I, Bruque Carlos D, Salatino Lucía, Lotersztein Vanesa, Pace Mariela, Grinberg Sofia, Elgoyhen Ana B, Plazas Paola V, Dalamón Viviana
其它
发表日期：2024
文献求助 收藏

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

基于遗传和蛋白质结构方法预测新型听力损失突变的致病性

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-021-04081-2
Buonfiglio, Paula I; Bruque, Carlos D; Lotersztein, Vanesa; Luce, Leonela; Giliberto, Florencia; Menazzi, Sebastián; Francipane, Liliana; Paoli, Bibiana; Goldschmidt, Ernesto; Elgoyhen, Ana Belén; Dalamón, Viviana
发表日期：2022
文献求助 收藏

Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

阿根廷先天性圆锥动脉干畸形患者的基因失衡

期刊:Genes
影响因子:2.8
doi:10.3390/genes9090454
Delea, Marisol; Espeche, Lucía D; Bruque, Carlos D; Bidondo, María Paz; Massara, Lucía S; Oliveri, Jaen; Brun, Paloma; Cosentino, Viviana R; Martinoli, Celeste; Tolaba, Norma; Picon, Claudina; Ponce Zaldua, María Eugenia; Ávila, Silvia; Gutnisky, Viviana; Perez, Myriam; Furforo, Lilian; Buzzalino, Noemí D; Liascovich, Rosa; Groisman, Boris; Rittler, Mónica; Rozental, Sandra; Barbero, Pablo; Dain, Liliana
发表日期：2018
文献求助 收藏

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

基于结构的CYP21A2稳定性变体活性预测：现有基因变异的调查

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/srep39082
Bruque, Carlos D; Delea, Marisol; Fernández, Cecilia S; Orza, Juan V; Taboas, Melisa; Buzzalino, Noemí; Espeche, Lucía D; Solari, Andrea; Luccerini, Verónica; Alba, Liliana; Nadra, Alejandro D; Dain, Liliana
发表日期：2016
文献求助 收藏

Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene

对 CYP21A2 基因的 p.R132C、p.R149C、p.M283V、p.E431K 和一种新的 c.652-2A>G 突变进行功能研究

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0092181
Taboas, Melisa; Gómez Acuña, Luciana; Scaia, María Florencia; Bruque, Carlos D; Buzzalino, Noemí; Stivel, Mirta; Ceballos, Nora R; Dain, Liliana
发表日期：2014
文献求助 收藏