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

Genomics of pregnancy loss

妊娠丢失的基因组学

Nikitina, Tatiana V; Fonova, Elizaveta A; Lebedev, Igor N

Genes with abnormal DNA methylation in chorionic villi of spontaneous abortions with monosomy X

X染色体单体性自发性流产绒毛膜绒毛中DNA甲基化异常的基因

Tolmacheva, Ekaterina N; Zhigalina, Daria I; Vasilyeva, Oksana Yu; Demeneva, Victoria V; Filatova, Svetlana A; Shevtsov, Daniil G; Fonova, Elizaveta A; Sazhenova, Elena A; Nikitina, Tatyana V; Lebedev, Igor N; Vasilyev, Stanislav A

Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications

3q29重复综合征的遗传结构和临床多态性阐述:文献综述及两例单基因BDH1重复患者的报告

Kashevarova, A A; Lopatkina, M E; Vasilyeva, O Yu; Fedotov, D A; Lobanov, A D; Fonova, E A; Zhalsanova, I Z; Zarubin, A A; Salyukova, O A; Belyaeva, E O; Petrova, V V; Ravzhaeva, E G; Agafonova, A A; Cheremnykh, A D; Torkhova, N B; Vovk, S L; Lebedev, I N

Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders

神经发育障碍患者X染色体拷贝数变异的患病率

Tolmacheva, Ekaterina N; Kashevarova, Anna A; Fonova, Elizaveta A; Salyukova, Olga A; Seitova, Gulnara N; Nazarenko, Lyudmila P; Agafonova, Anna A; Minaycheva, Larisa I; Ravzhaeva, Ekaterina G; Petrova, Valeria V; Lopatkina, Maria E; Belyaeva, Elena O; Vovk, Svetlana L; Fedotov, Dmitry A; Vasilyeva, Oksana Y; Skryabin, Nikolay A; Lebedev, Igor N

Genetic variants of the DLK1, KISS1R, MKRN3 genes in girls with precocious puberty

DLK1、KISS1R、MKRN3基因的遗传变异与女孩性早熟有关

Sazhenova, E A; Vasilyeva, O Yu; Fonova, E A; Kankanam Pathiranage, M B; Sambyalova, A Yu; Khramova, E E; Rychkova, L V; Vasilyev, S A; Lebedev, I N

Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis

病例报告:罕见骨硬化症中CTSK基因的一种新型纯合变异

Zhalsanova, Irina Zhargalovna; Fonova, Elizaveta Alekseevna; Valiakhmetov, Nail Raushanovich; Kolesnikov, Nikita Aleksandrovich; Gosudarkina, Sofia Nikolaevna; Agafonova, Anna Aleksandrovna; Ravzhaeva, Ekaterina Georgievna; Seitova, Gulnara Narimanovna; Stepanov, Vadim Anatolyevich; Skryabin, Nikolay Alekseevich

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

一例伴有罕见嵌合型超数标记染色体12和12p13.1-p12.1间质重复的Pallister-Killian综合征病例报告

T V Karamysheva # ,I N Lebedev # ,L I Minaycheva ,L P Nazarenko ,A A Kashevarova ,D A Fedotov ,N A Skryabin ,M E Lopatkina ,A D Cheremnykh ,E A Fonova ,T V Nikitina ,E A Sazhenova ,M M Skleimova ,N A Kolesnikov ,G V Drozdov ,Y S Yakovleva ,G N Seitova ,K E Orishchenko ,N B Rubtsov

Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

妊娠早期自然流产中染色体异常的发生率

Rick Essers # ,Igor N Lebedev # ,Ants Kurg # ,Elizaveta A Fonova ,Servi J C Stevens ,Rebekka M Koeck ,Ulrike von Rango ,Lloyd Brandts ,Spyridon Panagiotis Deligiannis ,Tatyana V Nikitina ,Elena A Sazhenova ,Ekaterina N Tolmacheva ,Anna A Kashevarova ,Dmitry A Fedotov ,Viktoria V Demeneva ,Daria I Zhigalina ,Gleb V Drozdov ,Salwan Al-Nasiry ,Merryn V E Macville ,Arthur van den Wijngaard ,Jos Dreesen ,Aimee Paulussen ,Alexander Hoischen ,Han G Brunner ,Andres Salumets ,Masoud Zamani Esteki

46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

46,XY,r(8)/45,XY,-8 嵌合体作为印记 Birk-Barel 综合征的可能机制:一个病例研究。

Kashevarova Anna A, Nikitina Tatyana V, Mikhailik Larisa I, Belyaeva Elena O, Vasilyev Stanislav A, Lopatkina Mariya E, Fedotov Dmitry A, Fonova Elizaveta A, Zarubin Aleksei A, Sivtsev Aleksei A, Skryabin Nikolay A, Nazarenko Lyudmila P, Lebedev Igor N