Anna A Kashevarova - Research Institute of Medical Genetics

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论文共 135 篇作者统计合作学者相似作者

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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

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

MOLECULAR GENETICS & GENOMIC MEDICINEno. 1 (2025)

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Prevalence of CNVs on the X Chromosome in Patients with Neurodevelopmental Disorders

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

Molecular Cytogeneticsno. 1 (2025): 1-20

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Combined Screening for Genetic Causes of Idiopathic Intellectual Disability by Chromosomal Microarray Analysis and Trio Whole Exome Sequencing in a Large Cohort of Russian Patients

Elizaveta Fonova,Anna Kashevarova,Maria Lopatkina, Alexey Sivtsev,Aleksei Zarubin, Viktoriia Demeneva, Andrew Zuev,Gulnara Seitova, Larisa Minaycheva, Olga Salyukova, Valeria Petrova, Svetlana Fadyushina, Dmitry Fedotov, Elena Belyaeva,Ekaterina Tolmacheva,Nadezhda Babushkina,Nikolay Skryabin, Ludmila Nazarenko,Igor Lebedev

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 193-194

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Ring Chromosome 8

Anna A. Kashevarova,Igor N. Lebedev

Human Ring Chromosomespp.151-158, (2024)

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Молекулярно-цитогенетическая Диагностика Парацентрической Инверсии 8p23.1 В Кариотипе Матери Пациента С Invdupdel(8p) На Кольцевой Хромосоме 8

Кашеварова А.А.,Деменева В.В., Зуев А.С.,Лопаткина М.Е.,Федотов Д.А., Васильев С.А., Лебедев И.Н.

Nauchno-prakticheskii zhurnal «Medicinskaia genetikano. 2 (2024): 55-58

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The Nature and Prevalence of Chromosomal Dynamics in Early Spontaneous Pregnancy Loss

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 24-25

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Design of Ipsc-Based Cell Model to Study the Functions of the UBE2A Gene

Alexandra Bogomazova, Alisa V. Fedorenko, Ekaterina A. Khomyakova,Anastasia V. Surdina, Elizaveta K. Sekretova, Tatiana V. Limanskaya, Lilia D. Belikova,Egor A. Volovikov,Maria M. Gridina, Anna A. Khabarova,Anna A. Kashevarova, Dmitry A. Fedotov, Elena A. Zerkalenkova,Maria A. Lagarkova,Igor N. Lebedev

Genes &amp Cells (2024)

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A novel approach for simultaneous detection of structural and single-nucleotide variants based on a combination of chromosome conformation capture and exome sequencing

Maria Gridina,Timofey Lagunov,Polina Belokopytova, Nikita Torgunakov,Miroslav Nuriddinov,Artem Nurislamov,Lyudmila P Nazarenko,Anna A Kashevarova,Maria E Lopatkina,Elena O Belyaeva,Olga A Salyukova, Aleksandr D Cheremnykh, Natalia N. Suhanova,Marina E Minzhenkova,Zhanna G Markova,Nina A. Demina, Yana Stepanchuk,Anna Khabarova, Alexandra Yan,Emil Valeev,Galina Koksharova,Elena V Grigor’eva, Natalia Kokh, Tatiana Lukjanova, Yulia Maximova, Elizaveta Musatova, Elena Shabanova,Andrey Kechin,Evgeniy Khrapov, Uliana Boyarskih,Oxana Ryzhkova,Maria Suntsova, Alina Matrosova, Mikhail Karoli,Andrey Manakhov,Maxim Filipenko,Evgeny Rogaev,Nadezhda V Shilova,Igor N Lebedev,Veniamin Fishman

biorxiv（2024）

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CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis

D. A. Fedotov,A. A. Kashevarova,I. N. Lebedev

Russian Journal of Geneticsno. 5 (2024): 572-587

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