Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Oxana S. Kurinnaia"'
Autor:
Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle, Thomas Liehr
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-8 (2022)
Abstract Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical
Externí odkaz:
https://doaj.org/article/1d14f5e89b2c49e4aece3d936bbec468
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:
Ivan Y. Iourov, Svetlana G. Vorsanova, Yuri B. Yurov, Maria A. Zelenova, Oxana S. Kurinnaia, Kirill S. Vasin, Sergei I. Kutsev
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 21, p 8328 (2020)
Mechanisms for somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN) are not completely understood. During molecular karyotyping and bioinformatic analyses of children with neurodevelopmental disorders and congenital malformations (n
Externí odkaz:
https://doaj.org/article/63a900dd7eba4c6c86ff0665a212f406
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
We present a case of an interstitial subtelomeric 10q26 deletion in a male child with moderate developmental delay and minor dysmorphic features. Using array comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH), we ha
Externí odkaz:
https://doaj.org/article/716a1ac9bd3747ce81c934af022c99ac
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted
Externí odkaz:
https://doaj.org/article/a61ac85ce27f4e5ab2d2cc731d8132a1
Autor:
Maria A Zelenova, I. A. Demidova, Yuri B. Yurov, Svetlana G. Vorsanova, Alexei D. Kolotii, V.S. Kravets, Ivan Y. Iourov, I.V. Soloviev, Oxana S Kurinnaia
Publikováno v:
OBM Genetics. 3
Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome inst
Autor:
Svetlana G. Vorsanova, Oxana S Kurinnaia, Ivan Y. Iourov, Alexandra P Silvanovich, Yuri B. Yurov, Maria A Zelenova
Publikováno v:
Molecular Cytogenetics, Vol 5, Iss 1, p 46 (2012)
Molecular Cytogenetics
Molecular Cytogenetics
Background Array comparative genomic hybridization (CGH) has been repeatedly shown to be a successful tool for the identification of genomic variations in a clinical population. During the last decade, the implementation of array CGH has resulted in