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

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1

诊断难题:囊性纤维化与确诊卡布奇综合征1型同时诊断

Vasilyeva, Tatyana; Kashirskaya, Nataliya; Mukhina, Anna; Bobreshova, Anastasia; Melyanovskaya, Yuliya; Karpova, Olga; Kazakov, Dmitriy; Marakhonov, Andrey; Pershin, Dmitry; Kondratyeva, Elena; Mikhalchuk, Kristina; Selina, Ekaterina; Sibgatullina, Farida; Shakirova, Almazia; Vafina, Zulfia; Shcherbina, Anna; Zinchenko, Rena

Cooperation of Transcription Factor PAX6 with Chromatin-Remodeling Complex BAF During Embryonic Development in Mammals

哺乳动物胚胎发育过程中转录因子PAX6与染色质重塑复合物BAF的协同作用

Azieva, Asya; Vasilyeva, Tatyana; Maksimenko, Oksana; Davydenko, Kseniya; Zinchenko, Rena; Marakhonov, Andrey

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family

不同诊断,共同祖先:同一家族中同时患有22q11.2缺失综合征和威斯科特-奥尔德里奇综合征

Bobreshova, Anastasia; Efimova, Irina; Mukhina, Anna; Bogdanova, Daria; Ogneva, Anna; Yukhacheva, Daria; Markova, Zhanna; Pershin, Dmitry; Rodina, Yulia; Balinova, Natalya; Raykina, Elena; Zhavoronok, Daria; Seitova, Gulnara; Orlov, Dmitrii; Drozdov, Gleb; Sermyagina, Irina; Zinchenko, Rena; Shilova, Nadezda; Polyakov, Alexander; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey; Marakhonov, Andrey

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia

俄罗斯全国新生儿严重T细胞和B细胞免疫缺陷筛查的首批两年经验:使用TREC和KREC对230万新生儿进行了分析

Marakhonov, Andrey; Mukhina, Anna; Efimova, Irina; Balinova, Natalia; Ampleeva, Maria; Bobreshova, Anastasia; Rodina, Yulia; Pershin, Dmitry; Zabnenkova, Viktoriia; Ryzhkova, Oxana; Markova, Zhanna; Shilova, Nadezhda; Zhanin, Ilya; Savostyanov, Kirill; Matulevich, Svetlana; Bilalov, Fanil; Koroteev, Alexander; Donnikov, Andrey; Trofimov, Dmitry; Bairova, Tatyana; Seitova, Gulnara; Mordanov, Sergei; Nikolaeva, Elena; Esmurzieva, Zareta; Skorobogatova, Elena; Olkhova, Lyudmila; Vakhonina, Larisa; Kostenko, Daria; Bronin, Gleb; Zimin, Sergey; Bykova, Tatiana; Balashov, Dmitry; Zinchenko, Rena; Grachev, Nikolai; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey

13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies

13q缺失综合征表现为淋巴细胞减少症,通过新生儿原发性免疫缺陷筛查发现

Efimova, Irina; Mukhina, Anna; Markova, Zhanna; Mordanov, Sergey; Soprunova, Irina; Pershin, Dmitry; Balinova, Natalya; Petrusenko, Yunna; Meleshko, Dmitry; Zinchenko, Rena; Shilova, Nadezhda; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey; Marakhonov, Andrey

Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort

统一新生儿SCID筛查中的TREC阈值:来自俄罗斯验证队列的启示

Marakhonov, Andrey; Kalinina, Ekaterina; Larin, Sergey; Khadzhieva, Maryam; Dudina, Ekaterina; Mukhina, Anna; Rodina, Yulia; Efimova, Irina; Balinova, Natalya; Sermyagina, Irina; Shchagina, Olga; Zinchenko, Rena; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects

北奥塞梯-阿兰共和国杜氏肌营养不良症:流行病学研究、诊断问题和治疗前景

Zinchenko, Rena; Tebieva, Inna; Murtazina, Aysylu; Ionova, Sofya; Zhmurova-Kriventsova, Alisa; Shchagina, Olga; Zinina, Elena; Gabisova, Yulia; Khokhova, Alana; Tokazova, Marina; Ikaev, Murat; Remizov, Oleg; Popovich, Sofia; Kuzenkova, Ludmila; Marakhonov, Andrey; Kutsev, Sergey

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