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

High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect

俄罗斯贝加尔湖地区听力损失患者中m.1555A>G突变的高发率可能是创始人效应所致。

Borisova, Tuyara V; Cherdonova, Aleksandra M; Pshennikova, Vera G; Teryutin, Fedor M; Morozov, Igor V; Bondar, Alexander A; Baturina, Olga A; Kabilov, Marsel R; Romanov, Georgii P; Solovyev, Aisen V; Fedorova, Sardana A; Barashkov, Nikolay A

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

贝加尔湖地区(俄罗斯)听力障碍患者的GJB2(Cx26)基因变异

Pshennikova, Vera G; Teryutin, Fedor M; Cherdonova, Alexandra M; Borisova, Tuyara V; Solovyev, Aisen V; Romanov, Georgii P; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L; Fedorova, Sardana A; Barashkov, Nikolay A

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

东西伯利亚雅库特人群隔离区中的常染色体隐性白内障(CTRCT18):FYCO1基因中的一种新型创始变异

Barashkov, Nikolay A; Konovalov, Fedor A; Borisova, Tuyara V; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Sapojnikova, Nadejda V; Vychuzhina, Lyubov S; Romanov, Georgii P; Gotovtsev, Nyurgun N; Morozov, Igor V; Bondar, Alexander A; Platonov, Fedor A; Burtseva, Tatiana E; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

俄罗斯西伯利亚南部两个土著民族中SLC26A4相关听力损失发生率的差异

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Bady-Khoo, Marita S; Barashkov, Nikolay A; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

西伯利亚南部聋哑患者中三种常见GJB2突变c.516G>C、c.-23+1G>A和c.235delC的高发生率是由于创始人效应所致。

Zytsar, Marina V; Bady-Khoo, Marita S; Danilchenko, Valeriia Yu; Maslova, Ekaterina A; Barashkov, Nikolay A; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L

Genetic legacy of cultures indigenous to the Northeast Asian coast in mitochondrial genomes of nearly extinct maritime tribes

东北亚沿海土著文化的遗传遗产在近乎灭绝的海洋部落的线粒体基因组中得以体现

Dryomov, Stanislav V; Starikovskaya, Elena B; Nazhmidenova, Azhar M; Morozov, Igor V; Sukernik, Rem I

Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).

GJB2 基因独特的突变谱及其对图瓦人(俄罗斯西伯利亚南部)耳聋的致病作用:罕见变异 c.516G>C (p.Trp172Cys) 的高流行率

Posukh Olga L, Zytsar Marina V, Bady-Khoo Marita S, Danilchenko Valeria Yu, Maslova Ekaterina A, Barashkov Nikolay A, Bondar Alexander A, Morozov Igor V, Maximov Vladimir N, Voevoda Michael I

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia)

一例罕见的瓦尔登堡综合征病例,该病由MITF基因中的无义变异c.772C>T (p.Arg259*)引起,患者为来自东西伯利亚(俄罗斯萨哈共和国)的雅库特人。

Barashkov, Nikolay A; Romanov, Georgii P; Borisova, Uigulaana P; Solovyev, Aisen V; Pshennikova, Vera G; Teryutin, Fedor M; Bondar, Alexander A; Morozov, Igor V; Khusnutdinova, Elza K; Posukh, Olga L; Burtseva, Tatiana E; Odland, Jon Øyvind; Fedorova, Sardana A

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

对与常染色体隐性遗传性耳聋 1A (DFNB1A) 相关的 GJB2、GJB6 和 GJB3 基因错义变异的预测性计算机工具进行比较

Pshennikova, Vera G; Barashkov, Nikolay A; Romanov, Georgii P; Teryutin, Fedor M; Solov'ev, Aisen V; Gotovtsev, Nyurgun N; Nikanorova, Alena A; Nakhodkin, Sergey S; Sazonov, Nikolay N; Morozov, Igor V; Bondar, Alexander A; Dzhemileva, Lilya U; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

俄罗斯听力损失相关c.35delG (GJB2)基因携带率更新及西伯利亚常见c.35delG单倍型

Zytsar, Marina V; Barashkov, Nikolay A; Bady-Khoo, Marita S; Shubina-Olejnik, Olga A; Danilenko, Nina G; Bondar, Alexander A; Morozov, Igor V; Solovyev, Aisen V; Danilchenko, Valeriia Yu; Maximov, Vladimir N; Posukh, Olga L