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

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases

涉及DMD基因的平衡易位是导致女性儿童肌营养不良症的原因:三例病例报告

Vorontsova, Ekaterina O; Murtazina, Aysylu; Zinina, Elena; Polyakov, Alexander V; Sumina, Maria; Rybakova, Olga A; Vlodavets, Dmitry; Kazakov, Dmitry; Suvorova, Yulia; Sharkova, Inna V; Demina, Nina A; Repina, Svetlana A; Bulanova, Vera A; Antonova, Maria; Dadali, Elena; Marakhonov, Andrey V; Shilova, Nadezhda V; Kutsev, Sergey I; Shchagina, Olga A

Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings

由一种新型纯合RINT1变异引起的复发性急性肝衰竭和中性粒细胞减少症:表型扩展和人群特异性发现的简要报告

Nuzhnaya, Еkaterina; Marakhonov, Andrey; Prokhorov, Nikolai; Kan, Nelly; Rodina, Yulia; Shcherbina, Anna; Tsygankova, Polina; Efremovа, Anna; Semenova, Natalia

First Symptomatic Pediatric Case of Hb Rothschild (HBB: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia

首例有症状的儿童Hb Rothschild(HBB:c.112T>C,p.Trp38Arg):低氧亲和力血红蛋白,表现为持续性假性低氧血症

Nuzhnaya, Ekaterina; Marakhonov, Andrey; Ivanov, Artem; Lashkova, Yulia; Kuznetsov, Ivan; Kulichenko, Tatiana; Zabudskaya, Ksenya; Ryzhkova, Oxana; Zernov, Nikolay; Semenova, Natalia

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

Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review

病例报告:尽管存在严重的USP53缺失,但仍出现轻度BRIC样胆汁淤积——新发现及文献综述

Nuzhnaya, Ekaterina; Cherevatova, Tatiana; Lotnik, Ekaterina; Shagiazdanova, Aleksandra; Markova, Zhanna; Filimonova, Ekaterina; Parshina, Olga; Buianova, Anastasiia; Bobreshova, Anastasia; Marakhonov, Andrey; Semenova, Natalia