Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Nikolay A. Skryabin"'
Publikováno v:
RUDN Journal of Medicine, Vol 28, Iss 2, Pp 282-292 (2024)
Relevance. The problem of diagnosing hereditary neuromuscular diseases is one of the most difficult in the medical specialists’ practice. Molecular genetic diagnostics is one of the fundamental aspects in the classification and subsequent approache
Externí odkaz:
https://doaj.org/article/53385cd5a82b4c0eb10a91d10643f1a2
Autor:
Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 1, Pp 96-105 (2023)
This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools, a specific nonsynonymous
Externí odkaz:
https://doaj.org/article/660c8e7eaeb3410fbffb8e767fd02d7c
Autor:
Tatyana V. Karamysheva, Tatyana A. Gayner, Eugeny A. Elisaphenko, Vladimir A. Trifonov, Elvira G. Zakirova, Konstantin E. Orishchenko, Mariya A. Prokhorovich, Maria E. Lopatkina, Nikolay A. Skryabin, Igor N. Lebedev, Nikolay B. Rubtsov
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3255 (2022)
Detection and precise genomic mapping of balanced chromosomal abnormalities in patients with impaired fertility or a clinical phenotype represent a challenge for current cytogenomics owing to difficulties with precise breakpoint localization in the r
Externí odkaz:
https://doaj.org/article/4ab33a10696a4c2fab8f87b1b0f92652
Autor:
Irina Zh. Zhalsanova, Ekatherina G. Ravzhaeva, Anna E. Postrigan, Gulnara N. Seitova, Daria I. Zhigalina, Vasilisa Yu. Udalova, Maryana M. Danina, Ilya V. Kanivets, Nikolay A. Skryabin
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10606 (2022)
Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the MAN1B1 gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor developme
Externí odkaz:
https://doaj.org/article/e4fc03efdd3d41899823bc8e395b7f88
Autor:
Anna A. Kashevarova, Elena O. Belyaeva, Aleksandr M. Nikonov, Olga V. Plotnikova, Nikolay A. Skryabin, Tatyana V. Nikitina, Stanislav A. Vasilyev, Yulia S. Yakovleva, Nadezda P. Babushkina, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Renata R. Savchenko, Lyudmila P. Nazarenko, Igor N. Lebedev
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)
Abstract Background Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. Results Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22)
Externí odkaz:
https://doaj.org/article/39cc369923cf47e6bcbd29192692f3ea
Autor:
Kirill A. Buzaverov, Aleksandr S. Baburin, Evgeny V. Sergeev, Sergey S. Avdeev, Evgeniy S. Lotkov, Mihail Andronik, Victoria E. Stukalova, Dmitry A. Baklykov, Ivan V. Dyakonov, Nikolay N. Skryabin, Mikhail Yu. Saygin, Sergey P. Kulik, Ilya A. Ryzhikov, Ilya A. Rodionov
Publikováno v:
Optics Express. 31:16227
Low-loss photonic integrated circuits (PICs) are the key elements in future quantum technologies, nonlinear photonics and neural networks. The low-loss photonic circuits technology targeting C-band application is well established across multi-project
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7513bc380dafe154d99e56d62081f93
https://doi.org/10.1364/oe.477458
https://doi.org/10.1364/oe.477458
Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
Autor:
Irina Zh. Zhalsanova, Anna Evgenievna Postrigan, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Daria Ivanovna Zhigalina, Aleksei Andreevich Zarubin, Valeria Viktorovna Petrova, Larisa Ivanovna Minaycheva, Gulnara Narimanovna Seitova, Nikolay Alekseevich Skryabin, Vadim Anatolevich Stepanov
Publikováno v:
International Journal of Molecular Sciences. 24:6672
Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d18ad13be43e9c2b1b4dd3cf548a6a5
https://doi.org/10.3390/ijms24076672
https://doi.org/10.3390/ijms24076672
Autor:
Antonina A. Arkhipova, Sergey K. Ivanov, Sergey A. Zhuravitskii, Nikolay N. Skryabin, Ivan V. Dyakonov, Alexander A. Kalinkin, Sergey P. Kulik, Victor O. Kompanets, Sergey V. Chekalin, Yaroslav V. Kartashov, Victor N. Zadkov
We report the experimental observation of the periodic switching of topological edge states between two dimerized fs-laser written waveguide arrays. Switching occurs due to the overlap of the modal fields of the edge states from topological forbidden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c582897f560938c96803b48b8fbfd73
Autor:
Elizaveta A. Fonova, Ekaterina N. Tolmacheva, Anna A. Kashevarova, Elena A. Sazhenova, Tatyana V. Nikitina, Maria E. Lopatkina, Oksana Yu. Vasilyeva, Aleksei А. Zarubin, Tatyana N. Aleksandrova, Sergey Yu. Yuriev, Nikolay A. Skryabin, Vadim A. Stepanov, Igor N. Lebedev
Publikováno v:
Cytogenetic and genome research. 162(3)
Skewed X-chromosome inactivation (sXCI) can be a marker of lethal genetic variants on the X chromosome in a woman since sXCI modifies the pathological phenotype. The aim of this study was to search for CNVs in women with miscarriages and sXCI. XCI wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57691888aeaf2d4fa83013d140bc85e3
https://pubmed.ncbi.nlm.nih.gov/35636401
https://pubmed.ncbi.nlm.nih.gov/35636401
Autor:
A.V. Markov, Vadim Stepanov, A. A. Zarubin, E. A. Sazhenova, Igor N. Lebedev, N. A. Kolesnikov, S. A. Vasilyev, E. N. Tolmacheva, Oksana Yu Vasilyeva, Sergey Yu Yuryev, T. V. Nikitina, Nikolay A. Skryabin
Publikováno v:
J Assist Reprod Genet
PURPOSE: Comparative analysis of multilocus imprinting disturbances (MLIDs) in miscarriages from women with sporadic (SPL) and recurrent pregnancy loss (RPL) and identification of variants in the imprinting control gene NLRP7 that may lead to MLIDs.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8282c0a891f924d3b6d490f8b13450
https://europepmc.org/articles/PMC8608992/
https://europepmc.org/articles/PMC8608992/