Zobrazeno 1 - 10
of 141
pro vyhledávání: '"Yuri B. Yurov"'
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. Moreover, there is a growing amount
Externí odkaz:
https://doaj.org/article/4f0fba0c4d4a45bc929c2d56f729aa80
Autor:
Svetlana G. Vorsanova, Irina A. Demidova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Ilya V. Soloviev, Yuri B. Yurov, Ivan Y. Iourov
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-9 (2022)
Abstract Background Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome mosaicism (KSM) has n
Externí odkaz:
https://doaj.org/article/c719580947764711a7b0f392f118f094
Autor:
Svetlana G. Vorsanova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Irina A. Demidova, Ilya V. Soloviev, Yuri B. Yurov, Ivan Y. Iourov
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Background Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaicism (TSM) remains
Externí odkaz:
https://doaj.org/article/6b7b0a6b66014af4b6c1060949c97441
Publikováno v:
Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual. Chromosomal mosaicism is associated with a wide spectrum of diseas
Externí odkaz:
https://doaj.org/article/a810f723ae8f44fcbc76ba447ddfcd49
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and diseases, studies of
Externí odkaz:
https://doaj.org/article/ae8cd3bd85444386985e9b82723b79a6
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Abstract Background Prioritization of genomic data has become a useful tool for uncovering the phenotypic effect of genetic variations (e.g. copy number variations or CNV) and disease mechanisms. Due to the complexity, brain disorders represent a maj
Externí odkaz:
https://doaj.org/article/e6c98c81f52c4862b08e3b039a2f333b
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-5 (2019)
Abstract Background In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby, designated
Externí odkaz:
https://doaj.org/article/9ad52e809e1d437083dc923874a63e1d
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific pro
Externí odkaz:
https://doaj.org/article/b2b10a4c4dfc4496a0be5a54d95cdfd5
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Externí odkaz:
https://doaj.org/article/c190af324f75423b915da3ba572aae1f
Publikováno v:
Cells, Vol 10, Iss 5, p 1256 (2021)
Chromosome instability (CIN) has been repeatedly associated with aging and progeroid phenotypes. Moreover, brain-specific CIN seems to be an important element of pathogenic cascades leading to neurodegeneration in late adulthood. Alternatively, CIN a
Externí odkaz:
https://doaj.org/article/64ed0b56dac54a0fa62a5f0532cab294