Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Anastassiya Perfilyeva"'
Autor:
Liliya Skvortsova, Anastassiya Perfilyeva, Kira Bespalova, Yelena Kuzovleva, Nailya Kabysheva, Ozada Khamdiyeva
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and
Externí odkaz:
https://doaj.org/article/1c8a44b4af824b7d950a08015fde4fa0
Autor:
Anastassiya Perfilyeva, Kira Bespalova, Sergey Bespalov, Mamura Begmanova, Yelena Kuzovleva, Olga Vishnyakova, Inna Nazarenko, Gulnar Abylkassymova, Yuliya Perfilyeva, Konstantin Plakhov, Leyla Djansugurova, Bakhytzhan Bekmanov
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Abstract The Tazy is a breed of sighthound common in Kazakhstan. The identification of runs of homozygosity (ROH) is an informative approach to assessing the history and possible patterns of directional selection pressure. To our knowledge, the prese
Externí odkaz:
https://doaj.org/article/7b0188ed9480419db71d56c904d092cb
Autor:
Liliya Skvortsova, Saltanat Abdikerim, Kanagat Yergali, Natalya Mit, Anastassiya Perfilyeva, Nazgul Omarbayeva, Aigul Zhunussova, Zulfiya Kachiyeva, Tolkyn Sadykova, Bakhytzhan Bekmanov, Dilyara Kaidarova, Leyla Djansugurova, Gulnur Zhunussova
Publikováno v:
Genes, Vol 15, Iss 1, p 108 (2024)
Breast cancer is a global health problem. It is an age-dependent disease, but cases of early-onset breast cancer (eBC) are gradually increasing. There are many unresolved questions regarding eBC risk factors, mechanisms of development and screening.
Externí odkaz:
https://doaj.org/article/f25cdea3fdd0438f80803c65ccb10ab7
Autor:
Anastassiya Perfilyeva, Kira Bespalova, Sergey Bespalov, Мamura Begmanova, Yelena Kuzovleva, Zhassulan Zhaniyazov, Olga Vishnyakova, Inna Nazarenko, Yuliya Perfilyeva, Ozada Khamdiyeva, Bakhytzhan Bekmanov
Publikováno v:
PLoS ONE, Vol 18, Iss 3, p e0282041 (2023)
The Tazy or Kazakh National sighthound has been officially recognized as the national heritage of Kazakhstan. Comprehensive genetic studies of genetic diversity and population structure that could be used for selection and conservation of this unique
Externí odkaz:
https://doaj.org/article/fcdb782bd15e4960afada1eda864d6dc
Autor:
Ozada Khamdiyeva, Zhanerke Tileules, Gulminyam Baratzhanova, Anastassiya Perfilyeva, Leyla Djansugurova
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-8 (2021)
Abstract Background Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs of the disease are repeated symptomatic or idiopathic epileptic seizures of both convulsive and non-convulsive nature that develop
Externí odkaz:
https://doaj.org/article/d7f7d385011d41529955f3f97ee4ae6c
Autor:
Gulnur Zhunussova, Georgiy Afonin, Saltanat Abdikerim, Abai Jumanov, Anastassiya Perfilyeva, Dilyara Kaidarova, Leyla Djansugurova
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Background: Colorectal cancer (CRC) incidence is rising worldwide, as well as in the Republic of Kazakhstan, while its occurrence is also increasing in the younger population. Hereditary forms associated with the development of colon and rectal cance
Externí odkaz:
https://doaj.org/article/0270f7b8de354ae9bcde4c99f9b27ed0
Autor:
Anastassiya Perfilyeva, Kira Bespalova, Yuliya Perfilyeva, Liliya Skvortsova, Lyazzat Musralina, Gulnur Zhunussova, Elmira Khussainova, Ulzhan Iskakova, Bakhytzhan Bekmanov, Leyla Djansugurova
Publikováno v:
Disease Markers.
The study of extended pedigrees containing autism spectrum disorder- (ASD-) related broader autism phenotypes (BAP) offers a promising approach to the search for ASD candidate variants. Here, a total of 650,000 genetic markers were tested in four Kaz