Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ilya Yu. Barkov"'
Autor:
Maria V. Kuznetsova, Dmitry Yu. Trofimov, Ekaterina S. Shubina, Taisiya O. Kochetkova, Natalia A. Karetnikova, Ilya Yu. Barkov, Vladimir A. Bakharev, Oleg A. Gusev, Gennady T. Sukhikh
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make
Externí odkaz:
https://doaj.org/article/c10755bcb9264c608c4425011d6a6635
Autor:
Andrey S. Glotov, Galina Yu. Bobrovnik, Elena N. Andreyeva, Elena V. Dubrovina, Ilya Yu. Barkov, Elena Aleksandrovna Kalashnikova, Lyudmila Aleksandrovna Zhuchenko
Publikováno v:
Journal of obstetrics and women's diseases. 70:19-50
This review article offers an analysis of application of cell-free fetal DNA non-invasive prenatal screening test for chromosome abnormalities in the mothers blood in different countries. The diagnostic capacities of the method, its limitations, exec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5c084447ce4752147962edd3efb9690
https://doi.org/10.17816/jowd56573
https://doi.org/10.17816/jowd56573
Autor:
Ilya Yu. Barkov, Olga K. Stupko, I. S. Mukosey, T. O. Kochetkova, A.Y. Goltsov, Dmitry Yu. Trofimov, J. Shubina, Denis V. Rebrikov, Maria Kuznetsova
Publikováno v:
Bulletin of Russian State Medical University. :15-18
Timely detection of fetal aneuploidy is an important aspect of clinical practice. At present, analytical techniques involving high-throughput sequencing are on the rise. Noninvasive prenatal testing (NIPT) ensures reliable results as early as week 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21add37504f17d2ce8e38d73c528a686
https://doi.org/10.24075/brsmu.2019.040
https://doi.org/10.24075/brsmu.2019.040
Autor:
Maria Kuznetsova, Olga K. Stupko, J. Shubina, Gennady T. Sukhikh, T. O. Kochetkova, A.Y. Goltsov, Dmitry Yu. Trofimov, Ilya Yu. Barkov
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Background PWS is challenging to diagnose prenatally due to a lack of precise and well‐characterized fetal phenotypes and noninvasive markers. Here we present the case of prenatal diagnosis of Prader‐Willi syndrome, which was suspected with whole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fabbc4500ea2534a2778fb1359b8c5b7
https://pubmed.ncbi.nlm.nih.gov/32857485
https://pubmed.ncbi.nlm.nih.gov/32857485
Autor:
J. Shubina, Gennady T. Sukhikh, Ilya Yu. Barkov, T. O. Kochetkova, Regina V. Krasheninnikova, Lyudmila V. Kim, Natalia A. Karetnikova, Olga K. Stupko, Irina S. Mukosey, Andrey A. Bystritskiy, N. K. Tetruashvili, A.Y. Goltsov, Dmitry Yu. Trofimov, Vladimir A. Bakharev
Publikováno v:
Prenatal Diagnosis. 37:1305-1310
Objectives The aim of this study was to establish maternal contribution to false positive noninvasive prenatal DNA screening (NIPS) results and develop the method to distinguish maternal and fetal origin of high-risk monosomy X NIPS calls including m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94dc1914c56398297c65aa6c4c44cb10
https://doi.org/10.1002/pd.5178
https://doi.org/10.1002/pd.5178