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

Diabetes mellitus HNF4A-MODY in children from the Russian population: clinical and genetic features

俄罗斯儿童糖尿病HNF4A-MODY:临床和遗传特征

Sechko, Elena A; Laptev, Dmitry N; Koltakova, Mariia P; Khusainova, Rita I; Minniakhmetov, Ildar R; Kuraeva, Tamara L; Eremina, Irina A; Titovich, Elena V; Bezlepkina, Olga B; Peterkova, Valentina A

Rare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization

俄罗斯单基因糖尿病患者中罕见的BLK、CEL、KLF11、PDX1和PAX4基因变异:临床和分子特征

Khusainova, Rita I; Minniakhmetov, Ildar R; Laptev, Dmitry N; Koltakova, Mariya P; Deev, Roman V; Yalaev, Bulat I; Dvoryanchikov, Yaroslav V; Sechko, Elena A; Mokrysheva, Natalia G

The Identification of a Novel Pathogenic Variant in the GATA6 Gene in a Child with Neonatal Diabetes

在一名患有新生儿糖尿病的儿童中鉴定出GATA6基因中的一种新的致病变异

Sechko, Elena A; Koltakova, Maria P; Khusainova, Rita I; Minniakhmetov, Ildar R; Laptev, Dmitry N

Neutrophil cytosolic factor 2 (NCF2) gene polymorphism is associated with juvenile-onset systemic lupus erythematosus, but probably not with other autoimmune rheumatic diseases in children

中性粒细胞胞质因子2 (NCF2) 基因多态性与青少年发病的系统性红斑狼疮相关,但可能与其他儿童自身免疫性风湿病无关。

Bakutenko, Ivan Y; Haurylchyk, Irena D; Nikitchenko, Natalia V; Sechko, Elena V; Kozyro, Inna A; Tchitchko, Alexei M; Batyan, Galina M; Sukalo, Alexander V; Ryabokon, Nadezhda I

Polymorphism of Proteasomal Genes Can Be a Risk Factor for Systemic Autoimmune Diseases in Children

蛋白酶体基因多态性可能是儿童系统性自身免疫性疾病的危险因素

Bakutenko, Ivan Y; Hileuskaya, Irena D; Nikitchenko, Natalia V; Sechko, Elena V; Tchitchko, Alexej M; Batyan, Galina M; Sukalo, Alexander V; Ryabokon, Nadezhda I

A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance

一名患有糖尿病、高胰岛素血症和胰岛素抵抗的男孩被发现存在葡萄糖激酶基因突变

Emelyanov, Andrey O; Sechko, Elena; Koksharova, Ekaterina; Sklyanik, Igor; Kuraeva, Tamara; Mayorov, Alexander; Peterkova, Valentina; Dedov, Ivan