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

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta

成骨不全症家族内临床多态性的例子

Galkina, Varvara A; Vasilyeva, Tatyana A; Tebieva, Inna S; Getoeva, Zolina K; Marakhonov, Andrey V; Kadyshev, Vitaly V; Kutsev, Sergey I; Zinchenko, Rena A

Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene

北奥塞梯-阿兰尼亚高苯丙氨酸血症的遗传图谱和临床特征:PAH基因中P281L和P211T遗传变异的高频率

Tebieva, Inna S; Mishakova, Polina V; Gabisova, Yulia V; Khokhova, Alana V; Kaloeva, Tamara G; Marakhonov, Andrey V; Shchagina, Olga A; Polyakov, Alexander V; Ginter, Evgeny K; Kutsev, Sergey I; Zinchenko, Rena A

The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

对北奥塞梯-阿兰共和国家族中1型强直性肌营养不良症(DM1)遗传机制的研究

Ionova, Sofya A; Murtazina, Aysylu F; Marakhonov, Andrey A; Shchagina, Olga A; Ryadninskaya, Nina V; Tebieva, Inna S; Kadyshev, Vitaly V; Borovikov, Artem O; Ginter, Evgeny K; Kutsev, Sergey I; Zinchenko, Rena A

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome

白化症的面具:赫尔曼斯基-普德拉克综合征的临床谱

Bobreshova, Anastasia M; Ionova, Sofya A; Kadyshev, Vitaly V; Sukhanova, Natella V; Viakhireva, Iuliia V; Filatova, Alexandra Yu; Zhurkova, Natalia V; Sparber, Peter A; Marakhonov, Andrey V; Vasilyeva, Tatyana A; Shchagina, Olga A; Kutsev, Sergey I; Zinchenko, Rena A

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

同一患者同时患有由PAX6无义变异p.(Cys94*)引起的先天性无虹膜症和21号染色体三体综合征

Vasilyeva, Tatyana A; Sukhanova, Natella V; Marakhonov, Andrey V; Kuzina, Natalia Yu; Shilova, Nadezhda V; Kadyshev, Vitaly V; Kutsev, Sergey I; Zinchenko, Rena A

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report

北奥塞梯-阿兰共和国X连锁鱼鳞病的遗传异质性病例系列报告

Vasilyeva, Tatyana A; Marakhonov, Andrey V; Tebieva, Inna S; Kadyshev, Vitaly V; Borovikov, Artem O; Markova, Zhanna G; Chukhrova, Alyona L; Ginter, Evgeny K; Kutsev, Sergey I; Zinchenko, Rena A

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population

c.[1622T>C;3113C>T]复合等位基因和c.5882G>A变异在东欧人群ABCA4相关视网膜营养不良中的主要作用

Kadyshev, Vitaly V; Alekseeva, Ekaterina A; Strelnikov, Vladimir V; Stepanova, Anna A; Polyakov, Alexander V; Marakhonov, Andrey V; Kutsev, Sergey I; Zinchenko, Rena A

An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)

PAX6 基因中一种不寻常的新型错义变异:NM_000280.4:c.341A>G, p.(Asn114Ser)

Vasilyeva, Tatyana A; Sukhanova, Natella V; Khalanskaya, Olga V; Marakhonov, Andrey V; Prokhorov, Nikolai S; Kadyshev, Vitaly V; Skryabin, Nikolay A; Kutsev, Sergey I; Zinchenko, Rena A

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

俄罗斯联邦PAX6基因致病变异的流行病学及PAX6相关先天性无虹膜症的预期患病率:一项全国性研究

Vasilyeva, Tatyana A; Marakhonov, Andrey V; Voskresenskaya, Anna A; Kadyshev, Vitaly V; Sukhanova, Natella V; Minzhenkova, Marina E; Shilova, Nadezhda V; Latyshova, Alla A; Ginter, Evgeny K; Kutsev, Sergey I; Zinchenko, Rena A

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

本文报告了来自北奥塞梯-阿兰共和国的两例互不相关的临床病例,这两例病例均携带COL6A2基因中此前未描述的相同变异。

Ionova, Sofya A; Murtazina, Aysylu F; Tebieva, Inna S; Getoeva, Zalina K; Dadali, Elena L; Chausova, Polina A; Shchagina, Olga A; Marakhonov, Andrey V; Kutsev, Sergey I; Zinchenko, Rena A