Zobrazeno 1 - 9
of 9
pro vyhledávání: '"E. Yu Voskoboeva"'
Autor:
E. Yu Voskoboeva, T. M. Bookina, A. N. Semyachkina, S. V. Mikhaylova, N. D. Vashakmadze, G. V. Baydakova, E. Yu Zakharova, S. I. Kutsev
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2022)
Mutations in the IDUA gene cause deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), which leads to a rare disease known as mucopolysaccharidosis type I. More than 300 pathogenic variants of the IDUA gene have been reported to date, but no
Externí odkaz:
https://doaj.org/article/f8b01ae100a143058ab34fccabc7477d
Publikováno v:
RUDN Journal of Medicine, Vol 0, Iss S5, Pp 97-104 (2013)
The article presents a study on optimization of patients who showed an preimplantacionnoj genetic diagnosis (PGD), identifying opportunities for expanding the range of indications for PGD, and show the validity of the PGD have fertile patients.
Externí odkaz:
https://doaj.org/article/303886841c764c3bad5e59ef657d89d8
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 4, Pp 142-149 (2020)
The article is devoted to a rare (orphan) disease from the group of lysosomal storage diseases — alpha-mannosidosis, associated with the accumulation of mannose-containing oligosaccharides in the tissues and cells of the body. The authors analyze t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f068429508ffc1e326d7b1d54006c16a
https://www.ped-perinatology.ru/jour/article/view/1213
https://www.ped-perinatology.ru/jour/article/view/1213
Autor:
I. N Lisyanskiy, M. S Vetrile, E. Yu Voskoboeva, A. A Kuleshov, Luydmila K. Mikhailova, E. Yu Zakharova, O. A Polyakova
Publikováno v:
Вестник травматологии и ортопедии имени Н.Н. Приорова, Vol 0, Iss 3, Pp 51-55 (2017)
Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f487a989b00a5f56c06cb5f8414eb6b
https://doi.org/10.32414/0869-8678-2017-3-51-55
https://doi.org/10.32414/0869-8678-2017-3-51-55
Autor:
Luydmila K. Mikhailova, O. A Polyakova, E. Yu Zakharova, E. Yu Voskoboeva, A. A Kuleshov, M. S Vetrile, I. N Lisyanskiy
Publikováno v:
N.N. Priorov Journal of Traumatology and Orthopedics. 24:51-55
Peculiarities of the clinical manifestation of mucopolysaccharidosis type IV diagnosed at the age of 30 years only are presented. In spite of favorable disease course after the age of 30 years combined vertebral canal stenosis more marked at C0-C1 le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f888c1da8c5b6b1a962d30eb81b5f560
https://doi.org/10.17816/vto201724351-55
https://doi.org/10.17816/vto201724351-55
Autor:
A. N. Semyachkina, E. Yu. Voskoboeva, Т. M. Bukina, A. M. Bukina, E. A. Nikolaeva, I. S. Dantsev, M. N. Kharabadze, Yu. I. Davydova
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 62, Iss 3, Pp 71-78 (2017)
The article is devoted to a rare pathology from a group of accumulation diseases with an autosomal recessive type of inheritance – mucolipidosis II and IIIA types. The disease is characterized by a greater phenotypic similarity to mucopolysaccharid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35dfe185bb0a2bd88279c769490bdfd
https://doi.org/10.21508/1027-4065-2017-62-3-71-78
https://doi.org/10.21508/1027-4065-2017-62-3-71-78
Publikováno v:
Problemy reproduktsii. 25:44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18f1fc61e8da214a16c9036670cfe3e3
https://doi.org/10.17116/repro20192506144
https://doi.org/10.17116/repro20192506144
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 115(5)
To study the influence of 444 G/A (rs 1108580) and -1021 C/T (rs 1611115) polymorphisms of the dopamine beta-hydroxylase (DBH) gene on clinical parameters of the trajectory of alcohol dependence.Authors studied 548 male inpatients, of Slavic ethnicit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac1722e451a1fa86c12e73d61c37b1c
https://pubmed.ncbi.nlm.nih.gov/26356164
https://pubmed.ncbi.nlm.nih.gov/26356164
Publikováno v:
Journal of Histochemistry & Cytochemistry. 53:297-299
Sixty blood samples from pregnant women during gestational weeks 9–28 were investigated. Cell-free fetal DNA was extracted from maternal plasma or serum to be detected by nested PCR for determination of fetal gender. The SRY gene as a marker for fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3fdb09477a0bc3bfae30decfe467ee5
https://doi.org/10.1369/jhc.4b6398.2005
https://doi.org/10.1369/jhc.4b6398.2005