Výsledky vyhledávání - "Zhanna G, Markova"

Akademický článek

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization

Autor: Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova, Nadezda V. Shilova

Publikováno v: Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-10 (2021)

Abstract Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced

Externí odkaz: https://doaj.org/article/b20dabdd1d7e4dcda985e42f0302774e

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Akademický článek

A cookbook for DNase Hi-C

Autor: Maria Gridina, Evgeniy Mozheiko, Emil Valeev, Ludmila P. Nazarenko, Maria E. Lopatkina, Zhanna G. Markova, Maria I. Yablonskaya, Viktoria Yu Voinova, Nadezhda V. Shilova, Igor N. Lebedev, Veniamin Fishman

Publikováno v: Epigenetics & Chromatin, Vol 14, Iss 1, Pp 1-15 (2021)

Abstract Background The Hi-C technique is widely employed to study the 3-dimensional chromatin architecture and to assemble genomes. The conventional in situ Hi-C protocol employs restriction enzymes to digest chromatin, which results in nonuniform g

Externí odkaz: https://doaj.org/article/fec92906eb854cc3a364233c77852460

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Akademický článek

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

Autor: Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko

Publikováno v: BMC Medical Genomics, Vol 13, Iss S8, Pp 1-5 (2020)

Abstract Background Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosi

Externí odkaz: https://doaj.org/article/5a4f4c93fb51459caf26f894f64b28c5

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Akademický článek

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of '8p Inverted Duplication/Deletion Syndrome'

Autor: Darya A. Yurchenko, Marina E. Minzhenkova, Elena L. Dadali, Zhanna G. Markova, Galina E. Rudenskaya, Galina N. Matyushchenko, Ilya V. Kanivets, Nadezda V. Shilova

Publikováno v: Biomedicines, Vol 10, Iss 3, p 567 (2022)

Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants

Externí odkaz: https://doaj.org/article/8d9a6b2c84534c6195f772851c460bdf

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Previously Undescribed Gross

Autor: Valeriia A, Kovalskaia, Victoriia V, Zabnenkova, Marina S, Petukhova, Zhanna G, Markova, Vyacheslav Yu, Tabakov, Oxana P, Ryzhkova

Publikováno v: Genes. 13(12)

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::237a63b71854802d31b9884bece3b85e
https://pubmed.ncbi.nlm.nih.gov/36553453

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Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report

Autor: Tatyana A. Vasilyeva, Andrey V. Marakhonov, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Zhanna G. Markova, Alyona L. Chukhrova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

Publikováno v: International Journal of Molecular Sciences. 24:4515

North Caucasus has always been a residence of a lot of different authentic ethnic groups speaking different languages and still living their traditional lifestyle. The diversity appeared to be reflected in the accumulation of different mutations caus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b0f797c411b70c5e9cbe5fb02dbd5476
https://doi.org/10.3390/ijms24054515

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Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia

Autor: Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova

Publikováno v: Genes; Volume 13; Issue 12; Pages: 2186

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene. Originally, these mutations have been reported to be implicated in tumor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142d985ff05ddba415cd4b33c0da325e
https://doi.org/10.3390/genes13122186

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Akademický článek

An exposure to the oxidized DNA enhances both instability of genome and survival in cancer cells.

Autor: Svetlana V Kostyuk, Marina S Konkova, Elizaveta S Ershova, Anna J Alekseeva, Tatiana D Smirnova, Sergey V Stukalov, Ekaterina A Kozhina, Nadezda V Shilova, Tatiana V Zolotukhina, Zhanna G Markova, Vera L Izhevskaya, Ancha Baranova, Natalia N Veiko

Publikováno v: PLoS ONE, Vol 8, Iss 10, p e77469 (2013)

BACKGROUND:Cell free DNA (cfDNA) circulates throughout the bloodstream of both healthy people and patients with various diseases and acts upon the cells. Response to cfDNA depends on concentrations and levels of the damage within cfDNA. Oxidized extr

Externí odkaz: https://doaj.org/article/cd4355125eab4851ba01f18f47eea8f0

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