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

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

LMNA基因内含子8供体剪接位点变异导致层粘蛋白病表型多样性的基础

Shchagina, Olga; Gilazova, Leisan; Filatova, Alexandra; Vafina, Zulfiia; Murtazina, Aysylu; Chigvintceva, Polina; Kudryashova, Olga; Polyakov, Aleksander; Kutsev, Sergey; Bulakh, Maria; Skoblov, Mikhail

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach

评估 PAX6 基因中的剪接变异:一种综合的微基因方法

Davydenko, Kseniya; Filatova, Alexandra; Skoblov, Mikhail

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients

对ARSB基因中复杂结构和剪接改变变异体的功能分析,旨在为粘多糖贮积症VI型患者提供个性化的反义疗法

Bychkov, Igor; Filatova, Alexandra; Baydakova, Galina; Sikora, Nataliya; Garifullina, Emiliya; Bykova, Anna; Tabakov, Vyacheslav; Skretnev, Alexandr; Skoblov, Mikhail; Zakharova, Ekaterina

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

病例报告:腺苷酸琥珀酸裂解酶缺乏症 I 型,由 ADSL 基因中一种新的错义变异导致的剪接紊乱引起

Borovikov, Artem; Davydenko, Ksenia; Murtazina, Aysylu; Sharkov, Artem; Kanivets, Ilya; Filatova, Alexandra; Skoblov, Mikhail

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

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

拼图缺失的一环:一项大型队列研究揭示了 PTPN11 基因在多发性骨软骨瘤中的作用

Borovikov Artem, Galeeva Nailya, Marakhonov Andrey, Murtazina Aysylu, Kadnikova Varvara, Davydenko Kseniya, Orlova Anna, Sparber Peter, Markova Tatiana, Orlova Maria, Osipova Darya, Nagornova Tatyana, Semenova Natalia, Levchenko Olga, Filatova Alexandra, Sharova Margarita, Vasiluev Peter, Kanivets Ilya, Pyankov Denis, Sharkov Artem, Udalova Vasilisa, Kenis Vladimir, Nikitina Natalia, Sumina Maria, Zherdev Konstantin, Petel'guzov Aleksandr, Chelpachenko Oleg, Zubkov Pavel, Dan Ivan, Snetkov Andrey, Akinshina Alexandra, Buklemishev Yury, Ryzhkova Oxana, Tabakov Vyacheslav, Zakharova Ekaterina, Korostelev Sergey, Zinchenko Rena, Skoblov Mikhail, Polyakov Alexander, Dadali Elena, Kutsev Sergey, Shchagina Olga

Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs

对OMIM基因中uORF的注释可以揭示5'UTR中的致病性变异。

Filatova, Alexandra; Reveguk, Ivan; Piatkova, Maria; Bessonova, Daria; Kuziakova, Olga; Demakova, Victoria; Romanishin, Alexander; Fishman, Veniamin; Imanmalik, Yerzhan; Chekanov, Nikolay; Skitchenko, Rostislav; Barbitoff, Yury; Kardymon, Olga; Skoblov, Mikhail

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

对家族性周围神经病中MPZ和SH3TC2基因变异的致病性和因果关系的评估

Shchagina, Olga; Orlova, Mariya; Murtazina, Aisylu; Filatova, Alexandra; Skoblov, Mikhail; Dadali, Elena

Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis

俄罗斯和土耳其囊性纤维化患者人群中E92K CFTR基因变异的临床和功能特征

Kondratyeva, Elena; Melyanovskaya, Yuliya; Bulatenko, Nataliya; Davydenko, Ksenia; Filatova, Alexandra; Efremova, Anna; Skoblov, Mikhail; Bukharova, Tatiana; Sherman, Viktoriya; Voronkova, Anna; Zhekaite, Elena; Krasovskiy, Stanislav; Amelina, Elena; Petrova, Nika; Polyakov, Alexander; Adyan, Tagui; Starinova, Marina; Krasnova, Maria; Vasilyev, Andrey; Makhnach, Oleg; Zinchenko, Rena; Kutsev, Sergey; Gokdemir, Yasemin; Karadag, Bülent; Goldshtein, Dmitry

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

SNX14基因深内含子纯合变异导致常染色体隐性遗传性脊髓小脑性共济失调20型:病例报告

Levchenko, Olga; Filatova, Alexandra; Mishina, Irina; Antonenko, Aleksey; Skoblov, Mikhail