Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Natalya A, Lemskaya"'
Autor:
Natalya A. Lemskaya, Svetlana A. Romanenko, Mariia A. Rezakova, Elena A. Filimonova, Dmitry Yu. Prokopov, Alexander A. Dolskiy, Polina L. Perelman, Yulia V. Maksimova, Asia R. Shorina, Dmitry V. Yudkin
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-13 (2021)
Abstract Background There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra maternally derived c
Externí odkaz:
https://doaj.org/article/f05f2a11cf1c4988a30d2c93dad6100f
Autor:
Natalya A. Lemskaya, Svetlana A. Romanenko, Yulia V. Maksimova, Asia R. Shorina, Dmitry V. Yudkin
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-4 (2021)
Abstract Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the duplication/triplicatio
Externí odkaz:
https://doaj.org/article/d60dcafe58424e0d856b2f36f613f54d
Autor:
Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey V. Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin
Publikováno v:
Non-coding RNA Research, Vol 6, Iss 1, Pp 1-7 (2021)
FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP. This mutation leads to dramatic changes in FMRP expression at both the mRNA and protein level
Externí odkaz:
https://doaj.org/article/b7bf439764c74c6aac61b6cf5c21185f
Autor:
Svetlana V. Pavlova, Larisa S. Biltueva, Svetlana A. Romanenko, Natalya A. Lemskaya, Anton V. Shchinov, Alexei V. Abramov, Viatcheslav V. Rozhnov
Publikováno v:
Comparative Cytogenetics, Vol 12, Iss 3, Pp 361-372 (2018)
Gymnures are an ancient group of small insectivorous mammals and are characterized by a controversial taxonomic status and the lack of a description of karyotypes for certain species. In this study, conventional cytogenetic techniques (Giemsa, CBG- a
Externí odkaz:
https://doaj.org/article/a712ddbee4204248a6c27524d7ec9baf
Autor:
Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 141-145 (2018)
Background: The Robertsonian translocations inherited from parents with a normal phenotype are often discovered through children with pathogenesis. The exact causes of pathologies in children with clinical manifestations are often unknown and vary gr
Externí odkaz:
https://doaj.org/article/a5dc21165aff416fa5c17d4905f31279
Autor:
Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alexander S. Graphodatsky, Ekaterina M. Galanina, Dmitry V. Yudkin
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 2, Pp 129-134 (2018)
Background: Intellectual disability (ID) is an important medical and social problem that can be caused by different genetic and environmental factors. One such factor could be rDNA amplification and changes in rRNA expression and maturation. Aim of t
Externí odkaz:
https://doaj.org/article/557cdafe7f8543cf86336ae82fec51d1
Autor:
Alena S. Telepova, Svetlana A. Romanenko, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Dmitry V. Yudkin
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-4 (2017)
Abstract Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic
Externí odkaz:
https://doaj.org/article/927936bc27914e3b97386c85875368e5
Autor:
Natalya A. Lemskaya
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 19, Iss 3, Pp 221-223 (2018)
Background: Many human molecular and genetic studies require the use of a renewable biological material. Although primary fibroblast cell lines can be used for this purpose, there are disadvantages associated with human biopsies including the limited
Externí odkaz:
https://doaj.org/article/4360429348a843c1935354e9f2c52575
Autor:
Asia R. Shorina, Dmitry V. Yudkin, Yulia V. Maksimova, Svetlana A. Romanenko, Natalya A. Lemskaya
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-4 (2021)
Background The presence of small supernumerary marker chromosomes (sSMCs) in a karyotype leads to diagnostic questions because the resulting extra material may cause abnormal development depending on the origin of the duplication/triplication. Becaus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c50b72323fb1946065f8b5d793f7c26a
https://doaj.org/article/d60dcafe58424e0d856b2f36f613f54d
https://doaj.org/article/d60dcafe58424e0d856b2f36f613f54d
Autor:
Vladimir O. Pustylnyak, Alexey V. Pindyurin, Alexander A. Dolskiy, Natalya A. Lemskaya, Lidiya V. Boldyreva, Irina V. Grishchenko, Dmitry V. Yudkin, Andrey A. Yarushkin
Publikováno v:
Non-coding RNA Research
Non-coding RNA Research, Vol 6, Iss 1, Pp 1-7 (2021)
Non-coding RNA Research, Vol 6, Iss 1, Pp 1-7 (2021)
FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP. This mutation leads to dramatic changes in FMRP expression at both the mRNA and protein level
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea18c4e932b16c5a7eb644de8e8a825
http://europepmc.org/articles/PMC7781359
http://europepmc.org/articles/PMC7781359