Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

por Iourov, Ivan Y., Vorsanova, Svetlana G., Yurov, Yuri B., Kutsev, Sergei I.
Publicado 2019

Chromosome Instability, Aging and Brain Diseases

por Iourov, Ivan Y., Yurov, Yuri B., Vorsanova, Svetlana G., Kutsev, Sergei I.
Publicado 2021

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2022

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

por Gundorova, Polina, Stepanova, Anna A., Kuznetsova, Irina A., Kutsev, Sergey I., Polyakov, Aleksander V.
Publicado 2019

Somatic mosaicism in the diseased brain

por Iourov, Ivan Y., Vorsanova, Svetlana G., Kurinnaia, Oxana S., Kutsev, Sergei I., Yurov, Yuri B.
Publicado 2022

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2020

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation

por Mikhalchuk, Kristina, Shchagina, Olga, Chukhrova, Alena, Zabnenkova, Viktoria, Chausova, Polina, Ryadninskaya, Nina, Vlodavets, Dmitry, Kutsev, Sergei I., Polyakov, Alexander
Publicado 2023

The Cytogenomic “Theory of Everything”: Chromohelkosis May Underlie Chromosomal Instability and Mosaicism in Disease and Aging

por Iourov, Ivan Y., Vorsanova, Svetlana G., Yurov, Yuri B., Zelenova, Maria A., Kurinnaia, Oxana S., Vasin, Kirill S., Kutsev, Sergei I.
Publicado 2020

Frequent variations in cancer-related genes may play prognostic role in treatment of patients with chronic myeloid leukemia

por Lavrov, Alexander V., Chelysheva, Ekaterina Y., Smirnikhina, Svetlana A., Shukhov, Oleg A., Turkina, Anna G., Adilgereeva, Elmira P., Kutsev, Sergey I.
Publicado 2016

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

por Petrova, Nika V., Marakhonov, Andrey V., Balinova, Natalia V., Abrukova, Anna V., Konovalov, Fedor A., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2021

Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology

por Voskoboeva, E. Yu, Bookina, T. M., Semyachkina, A. N., Mikhaylova, S. V., Vashakmadze, N. D., Baydakova, G. V., Zakharova, E. Yu, Kutsev, S. I.
Publicado 2022

Copy Number of Human Ribosomal Genes With Aging: Unchanged Mean, but Narrowed Range and Decreased Variance in Elderly Group

por Malinovskaya, Elena M., Ershova, Elizaveta S., Golimbet, Vera E., Porokhovnik, Lev N., Lyapunova, Nataliya A., Kutsev, Serguey I., Veiko, Natalia N., Kostyuk, Svetlana V.
Publicado 2018

Mild cognitive impairment is associated with low copy number of ribosomal genes in the genomes of elderly people

por Veiko, Natalia N., Ershova, Elizaveta S., Veiko, Roman V., Umriukhin, Pavel E., Kurmyshev, Marat V., Kostyuk, Georg P., Kutsev, Sergey I., Kostyuk, Svetlana V.
Publicado 2022

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

por Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu., Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2023

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population

por Kadyshev, Vitaly V., Alekseeva, Ekaterina A., Strelnikov, Vladimir V., Stepanova, Anna A., Polyakov, Alexander V., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2023

Effect of Low-Dose Ionizing Radiation on the Expression of Mitochondria-Related Genes in Human Mesenchymal Stem Cells

por Kostyuk, Svetlana V., Proskurnina, Elena V., Konkova, Marina S., Abramova, Margarita S., Kalianov, Andrey A., Ershova, Elizaveta S., Izhevskaya, Vera L., Kutsev, Sergey I., Veiko, Natalia N.
Publicado 2021

Copy Number Variation of Human Satellite III (1q12) With Aging

por Ershova, Elizaveta S., Malinovskaya, Elena M., Konkova, Marina S., Veiko, Roman V., Umriukhin, Pavel E., Martynov, Andrey V., Kutsev, Sergey I., Veiko, Natalia N., Kostyuk, Svetlana V.
Publicado 2019

Risk of HIV Infection and Lethality Are Decreased in CCR5del32  Heterozygotes: Focus Nosocomial Infection Study and Meta-analysis

por Borinskaya, S.A., Kozhekbaeva, Zh.M., Zalesov, A.V., Olseeva, E.V., Maksimov, A.R., Kutsev, S.I.,  Garaev, M.M., Rubanovich, A.V., Yankovsky, N.K.
Publicado 2012

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

por Marakhonov, Andrey V., Konovalov, Fedor A., Makaov, Amin Kh., Vasilyeva, Tatyana A., Kadyshev, Vitaly V., Galkina, Varvara A., Dadali, Elena L., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2018

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

por Zinchenko, Rena A., Ginter, Eugeny K., Marakhonov, Andrey V., Petrova, Nika V., Kadyshev, Vitaly V., Vasilyeva, Tatyana P., Alexandrova, Oksana U., Polyakov, Alexander V., Kutsev, Sergey I.
Publicado 2021