Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Olga A. Salyukova"'
Autor:
Larisa I. Minaycheva, Maria E. Lopatkina, Olga A. Salyukova, Nikolay A. Skryabin, Victor S. Tarabykin, Igor N. Lebedev, Elizaveta A. Fonova, E. A. Sazhenova, Elena O. Belyaeva, Lyudmila P. Nazarenko, T. V. Nikitina, E. N. Tolmacheva, A. A. Kashevarova
Publikováno v:
Cytogenetic and genome research. 160(5)
Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes that depend on the size and gene content of the affected region. In a healthy carrier, epigenetic mechanisms may compensate for the same microdeletion, which may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f227ee0144f4b24dc919bda618a706
https://pubmed.ncbi.nlm.nih.gov/32485717
https://pubmed.ncbi.nlm.nih.gov/32485717
Autor:
Igor N. Lebedev, Giovanni Romeo, Claudio Graziano, Vaidutis Kučinskas, E. N. Tolmacheva, Nataliya N. Chechetkina, Lyudmila P. Nazarenko, Nikolay A. Skryabin, E. A. Sazhenova, A. A. Kashevarova, Olga A. Salyukova, Pamela Magini
Publikováno v:
Gene; Vol 536
The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f97c78f192fc02f246554547d3a37726
https://doi.org/10.1016/j.gene.2013.11.029
https://doi.org/10.1016/j.gene.2013.11.029
Autor:
Olga A. Salyukova, T.V. Nikitina, Veniamin S. Fishman, S. A. Vasilyev, Nataliya N. Chechetkina, Giovanni Romeo, E. N. Tolmacheva, Lyudmila P. Nazarenko, Julia Kzhyshkowska, Claudio Graziano, A. A. Kashevarova, Igor N. Lebedev, M.E. Lopatkina, Ekaterina A. Vorotelyak, Nikolay A. Skryabin, Ekaterina P. Kalabusheva, Pamela Magini
Publikováno v:
American journal of medical genetics. Part A. 176(11)
The application of array-based comparative genomic hybridization and next-generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19267a5e6a1c0f6bc09d62f88cfaa046
https://pubmed.ncbi.nlm.nih.gov/30244536
https://pubmed.ncbi.nlm.nih.gov/30244536
Autor:
Olga A. Salyukova, Aleksey A Rudko, Zeynep Tümer, Claudio Graziano, Igor N. Lebedev, E. N. Tolmacheva, Shelagh Joss, Soren Schultz-Pedersen, Giovanni Romeo, Pamela Magini, Nataliya N. Chechetkina, A. A. Kashevarova, Lyudmila P. Nazarenko, Nikolay A. Skryabin
Publikováno v:
Molecular Cytogenetics
Background Detection of submicroscopic chromosomal alterations in patients with a idiopathic intellectual disability (ID) allows significant improvement in delineation of the regions of the genome that are associated with brain development and functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d7d66d0a8bafd2ecdc04e06523ea6d
https://doi.org/10.1186/s13039-014-0097-0
https://doi.org/10.1186/s13039-014-0097-0
Autor:
Igor N. Lebedev, Pamela Magini, Claudio Graziano, Giovanni Romeo, Olga A. Salyukova, E. N. Tolmacheva, Nazarenko Lp, A. A. Kashevarova, Nataliya N. Chechetkina, E. A. Sazhenova, Nikolay A. Skryabin
Publikováno v:
European Psychiatry. 29:1
Introduction To date 56 reciprocal microdeletion/microduplication syndromes have been described. Due to intensive application of microarray technologies new submicroscopic rearrangements are being published. The reciprocal rearrangements are particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46e72cb9258541a6868de46cfbf511cc
https://doi.org/10.1016/s0924-9338(14)78018-6
https://doi.org/10.1016/s0924-9338(14)78018-6
Autor:
Pamela Magini, A. A. Kashevarova, Olga A. Salyukova, Claudio Graziano, Giovanni Romeo, Igor N. Lebedev
Publikováno v:
European Psychiatry. 28:1
Introduction Genetic disorders underlie a significant number of cases of mental retardation (MR). However, the traditionally used routine karyotyping is not able to detect small but often clinically relevant aberrations. High-resolution genome-wide m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23064faed425a650fb29a2dcbd13e764
https://doi.org/10.1016/s0924-9338(13)76826-3
https://doi.org/10.1016/s0924-9338(13)76826-3