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

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation

基于俄罗斯联邦囊性纤维化患者登记库的囊性纤维化遗传和分子流行病学研究,旨在为靶向治疗提供指导

Kondratyeva, Elena; Melyanovskaya, Yuliya; Sherman, Victoriya; Voronkova, Anna; Zhekaite, Elena; Krasovsky, Stanislav; Amelina, Elena; Kashirskaya, Nataliya; Shadrina, Vera; Polyakov, Alexander; Adyan, Tagui; Sсhagina, Olga; Starinova, Marina; Enina, Elena; Vasilyev, Andrey; Marakhonov, Andrey; Zinchenko, Rena; Kutsev, Sergey

Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene

在CFTR基因中存在复杂等位基因[L467F;F508del]的情况下,评估氯离子通道残余功能并评价靶向药物的疗效

Anna Efremova ,Yuliya Melyanovskaya ,Maria Krasnova ,Anna Voronkova ,Diana Mokrousova ,Elena Zhekaite ,Nataliya Bulatenko ,Oleg Makhnach ,Tatiana Bukharova ,Sergei Kutsev ,Dmitry Goldshtein ,Elena Kondratyeva

The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy

CFTR基因复杂等位基因对囊性纤维化临床表现的影响及靶向治疗的有效性

Krasnova, Maria; Efremova, Anna; Bukhonin, Artem; Zhekaite, Elena; Bukharova, Tatiana; Melyanovskaya, Yuliya; Goldshtein, Dmitry; Kondratyeva, 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

Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel

携带复杂等位基因[E217G;G509D]的囊性纤维化患者的临床和遗传特征及CFTR通道的功能评估

Kondratyeva, Elena; Melyanovskaya, Yuliya; Efremova, Anna; Krasnova, Mariya; Mokrousova, Diana; Bulatenko, Nataliya; Petrova, Nika; Polyakov, Alexander; Adyan, Tagui; Kovalskaia, Valeriia; Bukharova, Tatiana; Marakhonov, Andrey; Zinchenko, Rena; Zhekaite, Elena; Buhonin, Artem; Goldshtein, Dmitry

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

俄罗斯囊性纤维化患者中与 c.1521_1523delCTT (F508del) 相关的复杂 CFTR 等位基因频率较高

Petrova, Nika V; Kashirskaya, Nataliya Y; Vasilyeva, Tatyana A; Balinova, Natalia V; Marakhonov, Andrey V; Kondratyeva, Elena I; Zhekaite, Elena K; Voronkova, Anna Y; Kutsev, Sergey I; Zinchenko, Rena A

Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]

为具有复杂等位基因 [L467F;F508del] 的患者个性化选择 CFTR 调节剂

Elena Kondratyeva, Nataliya Bulatenko, Yuliya Melyanovskaya, Anna Efremova, Elena Zhekaite, Viktoriya Sherman, Anna Voronkova, Irina Asherova, Alexander Polyakov, Tagui Adyan, Valeriia Kovalskaia, Tatiana Bukharova, Dmitry Goldshtein, Sergey Kutsev

Vitamin D Status Among Children With Juvenile Idiopathic Arthritis: A Multicenter Prospective, Non-randomized, Comparative Study

幼年特发性关节炎患儿维生素D状况:一项多中心前瞻性非随机对照研究

Kondratyeva, Elena I; Odinaeva, Nuriniso D; Klimov, Leonid Ya; Podchernyaeva, Nadeshda S; Ilenkova, Natalya I; Dolbnya, Svetlana V; Zhekaite, Elena K; Kuryaninova, Victoria A; Kotova, Yuliya V; Tikhaya, Margarita I; Shitkovskaya, Elena P; Bychina, Liubov V; Drepa, Tamara G; Zodbinova, Aisa E; Melyanovskaya, Yuliya L; Petrova, Nika V; Loshkova, Elena V; Kutsev, Sergei I

Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant

基因型包含核苷酸序列 c.3140-16T>A 变体的囊性纤维化患者的健康特征及其变体的功能分析

Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Ksenia Davydenko, Alexandra Filatova, Mikhail Skoblov, Stanislav Krasovsky, Nika Petrova, Alexander Polyakov, Tagui Adyan, Elena Amelina, Vera Shadrina, Elena Zhekaite, Aysa Zodbinova, Alexander Chernyak, R

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care

俄罗斯新生儿囊性纤维化筛查:改善护理的催化剂

Sherman, Victoria; Kondratyeva, Elena; Kashirskaya, Nataliya; Voronkova, Anna; Nikonova, Victoria; Zhekaite, Elena; Kutsev, Sergey