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

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

Assessing germline TP53 mutations in cancer patients: insights into Li-Fraumeni syndrome and genetic testing guidelines

评估癌症患者的生殖系TP53突变:对李-弗劳梅尼综合征和基因检测指南的见解

Danishevich, Anastasiia; Fedorova, Daria; Bodunova, Natalia; Makarova, Maria; Byakhova, Maria; Semenova, Anna; Galkin, Vsevolod; Litvinova, Maria; Nikolaev, Sergey; Efimova, Irina; Osinin, Pavel; Lisitsa, Tatyana; Khakhina, Anastasiya; Shipulin, German; Nasedkina, Tatiana; Shumilova, Syuykum; Gusev, Oleg; Bilyalov, Airat; Shagimardanova, Elena; Shigapova, Leyla; Nemtsova, Marina; Sagaydak, Olesya; Woroncow, Mary; Gadzhieva, Saida; Khatkov, Igor

Glucose-dependent insulinotropic polypeptide receptor signaling alleviates gut inflammation in mice.

葡萄糖依赖性促胰岛素多肽受体信号传导可减轻小鼠肠道炎症

Hammoud Rola, Kaur Kiran Deep, Koehler Jacqueline A, Baggio Laurie L, Wong Chi Kin, Advani Katie E, Yusta Bernardo, Efimova Irina, Gribble Fiona M, Reimann Frank, Fishman Sigal, Varol Chen, Drucker Daniel J

Decreased TREC and KREC levels in newborns with trisomy 21

21三体综合征新生儿TREC和KREC水平降低

Marakhonov, Andrey; Mukhina, Anna; Vlasova, Elena; Efimova, Irina; Balinova, Natalya; Rodina, Yulia; Pershin, Dmitry; Markova, Zhanna; Minzhenkova, Marina; Shilova, Nadezhda; Mudaeva, Dzhaina; Saydaeva, Djamila; Irbaieva, Taisiya; Matulevich, Svetlana; Belyashova, Elena; Yakubovskiy, Grigoriy; Tebieva, Inna; Gabisova, Yulia; Ikaev, Murat; Irinina, Nataliya; Nurgalieva, Liya; Saifullina, Elena; Belyaeva, Tatiana; Romanova, Olga; Voronin, Sergey; Zinchenko, Rena; Shcherbina, Anna; Kutsev, Sergey

Genetic landscape in Russian patients with familial left ventricular noncompaction

俄罗斯家族性左心室致密化不全患者的遗传图谱

Meshkov, Alexey N; Myasnikov, Roman P; Kiseleva, Anna V; Kulikova, Olga V; Sotnikova, Evgeniia A; Kudryavtseva, Maria M; Zharikova, Anastasia A; Koretskiy, Sergey N; Mershina, Elena A; Ramensky, Vasily E; Zaicenoka, Marija; Vyatkin, Yuri V; Kharlap, Maria S; Nikityuk, Tatiana G; Sinitsyn, Valentin E; Divashuk, Mikhail G; Kutsenko, Vladimir A; Basargina, Elena N; Barskiy, Vladimir I; Sdvigova, Nataliya A; Skirko, Olga P; Efimova, Irina A; Pokrovskaya, Maria S; Drapkina, Oxana M

Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases

识别致病变异负荷并选择最佳诊断方法是改进常染色体隐性遗传病携带者筛查的一种途径。

Sotnikova, Evgeniia A; Kiseleva, Anna V; Kutsenko, Vladimir A; Zharikova, Anastasia A; Ramensky, Vasily E; Divashuk, Mikhail G; Vyatkin, Yuri V; Klimushina, Marina V; Ershova, Alexandra I; Revazyan, Karina Z; Skirko, Olga P; Zaicenoka, Marija; Efimova, Irina A; Pokrovskaya, Maria S; Kopylova, Oksana V; Glechan, Anush M; Shalnova, Svetlana A; Meshkov, Alexey N; Drapkina, Oxana M

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region

对伊万诺沃地区俄罗斯人群中242个具有临床意义的基因进行靶向测序

Ramensky, Vasily E; Ershova, Alexandra I; Zaicenoka, Marija; Kiseleva, Anna V; Zharikova, Anastasia A; Vyatkin, Yuri V; Sotnikova, Evgeniia A; Efimova, Irina A; Divashuk, Mikhail G; Kurilova, Olga V; Skirko, Olga P; Muromtseva, Galina A; Belova, Olga A; Rachkova, Svetlana A; Pokrovskaya, Maria S; Shalnova, Svetlana A; Meshkov, Alexey N; Drapkina, Oxana M