Path of a patient with a rare diagnosis: regulatory documents and organization of the process of treatment and diagnosis of an orphan disease in the Russian Federation

by S. I. Kutsev
Published 2018-01-01

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

by Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Sergei I. Kutsev
Published 2019-05-01

Study of the hereditary non-syndromic ophthalmological pathology of child population of the Karachay-Cherkess Republic: estimations of genetic load and molecular genetic analysis

by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko
Published 2018-09-01

Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum

by V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko
Published 2019-04-01

Chromosome Instability, Aging and Brain Diseases

by Ivan Y. Iourov, Yuri B. Yurov, Svetlana G. Vorsanova, Sergei I. Kutsev
Published 2021-05-01

Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)

by I. V. Zolnikova, V. V. Kadyshev, A. V. Marakhonov, S. I. Kutsev, R. A. Zinchenko
Published 2021-04-01

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

by Polina Gundorova, Anna A Stepanova, Irina A Kuznetsova, Sergey I Kutsev, Aleksander V Polyakov
Published 2019-01-01

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

by Tatyana A. Vasilyeva, Andrey V. Marakhonov, Natella V. Sukhanova, Sergey I. Kutsev, Rena A. Zinchenko
Published 2020-07-01

Molekulyarnyy monitoringeffektivnosti terapii bol'nykhkhronicheskim mieloleykozom v Rossii(po materialam Vserossiyskoy nauchno-prakticheskoykonferentsii, Irkutsk, 3-4 sentyabrya 20...

by M V Dubina, D A Kuevda, T E Khomyakova, G A Tsaur, S I Kutsev, A Yu Zaritskiy
Published 2010-12-01

EPIDEMIOLOGICAL INDICATOR VALUE IN THE IODINE AVAILABILITY ASSESSMENT — EVIDENCE FROM THE REGIONS OF THE RUSSIAN FEDERATION

by E. A. Troshina, A. A. Rybakova, S. I. Kutsev, N. М. Platonova, E. A. Panfilova, P. O. Osmanova
Published 2019-10-01

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

by Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Maria A. Zelenova, Oxana S. Kurinnaia, Kirill S. Vasin, Sergei I. Kutsev
Published 2020-11-01

Current Approaches to the Treatment of Hunter Syndrome

by Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev
Published 2018-10-01

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

by Nika V. Petrova, Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, Rena A. Zinchenko
Published 2021-05-01

INFLUENCE OF NEONATAL SCREENING FOR CYSTIC FIBROSIS BY THE EXAMPLE OF PATIENTS OF THE MOSCOW REGION

by V. D. Sherman, E. I. Kondratieva, A. Y. Voronkova, N. Y. Kashirskaya, L. A. Shabalova, V. S. Nikonova, E. K. Zhekaite, S. I. Kutsev
Published 2017-11-01

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

by Elena M. Malinovskaya, Elizaveta S. Ershova, Vera E. Golimbet, Lev N. Porokhovnik, Nataliya A. Lyapunova, Serguey I. Kutsev, Natalia N. Veiko, Svetlana V. Kostyuk
Published 2018-08-01

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

by Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev, Rena A. Zinchenko
Published 2018-02-01

Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

by Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Published 2020-03-01

Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease

by S. S. Nikitin, S. I. Kutsev, E. N. Basargina, S. V. Mikhaylova, E. Yu. Zakharova, V. I. Larionova, S. I. Polyakova, N. P. Kotlukova, E. N. Arkhipova, M. O. Kovalchuk, N. V. Buchinskaya
Published 2016-03-01

Extracellular DNA Containing (dG)n Motifs Penetrates into MCF7 Breast Cancer Cells, Induces the Adaptive Response, and Can Be Expressed

by Ekaterina A. Kozhina, Elizaveta S. Ershova, Natalya A. Okorokova, Vladimir P. Veiko, Elena M. Malinovskaya, Vasilina A. Sergeeva, Marina S. Konkova, Serguey I. Kutsev, Nataly N. Veiko, Svetlana V. Kostyuk
Published 2019-01-01

Functionalized Fullerene Increases NF-κB Activity and Blocks Genotoxic Effect of Oxidative Stress in Serum-Starving Human Embryo Lung Diploid Fibroblasts

by E. S. Ershova, V. A. Sergeeva, V. J. Tabakov, L. A. Kameneva, L. N. Porokhovnik, I. I. Voronov, E. A. Khakina, P. A. Troshin, S. I. Kutsev, N. N. Veiko, S. V. Kostyuk
Published 2016-01-01