Výsledky vyhledávání - "T A, Zolotukhina"

THE NECESSITY OF FOREIGN LANGUAGE LINGUISTIC COMPETENCE IN THE STATE CIVIL SERVICE OF THE RUSSIAN FEDERATION

Autor: T. V. Zolotukhina, A.S. Garkavtseva, A.R. Prozorovskaya

Publikováno v: Region: systems, economy, management. 2:163-174

Subject. Foreign language (linguistic) competence in the Civil Service of the Russian Federation Topic. Problems of linguistic competence in the Civil Service of the Russian Federation Goals. Analysis of normative acts and reference sources that defi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3d229bebbf63dee114a4de7bd2841eb
https://doi.org/10.22394/1997-4469-2021-53-2-163-174

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[Genetic and clinical characteristics of 22q11.2 deletion syndrome]

Autor: Iu O, Kozlova, V V, Zabnenkova, N V, Shilova, M E, Min'zhenkova, V G, Antonenko, N P, Kotlukova, L V, Simonova, I A, Kazanceva, E G, Levchenko, T D, Bombardirova, T V, Zolotukhina, A V, Poliakov

Publikováno v: Genetika. 50(5)

In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.2 deletion syndro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a7bdaed300a070ee8ec272f8d717dc8c
https://pubmed.ncbi.nlm.nih.gov/25715476

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Use of 4‐trifluoromethylumbelliferyl‐α‐ l ‐iduronide as a new substrate for detection of α‐ l ‐iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease

Autor: V. V. Biryukov, Y. V. Voznyi, E. A. Karpova, I. V. Tsvetkova, A. N. Semyachkina, T. V. Zolotukhina

Publikováno v: Journal of Inherited Metabolic Disease. 14:134-139

Results are presented of alpha-L-iduronidase assays in the leukocytes of normal individuals, patients with Hurler disease and heterozygous carriers. The assays were carried out using 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d478c437c848caabd270a72f7cd7757
https://doi.org/10.1007/bf01800585

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[Maternal blood fetal cells: new noninvasive approach in prenatal diagnosis of hereditary diseases]

Autor: T V, Zolotukhina, N V, Shilova

Publikováno v: Vestnik Rossiiskoi akademii meditsinskikh nauk. (12)

A new noninvasive approach to prenatal diagnosis of hereditary diseases is being actively developed, which is based on the use of different fetal cells contained in pregnant females. Due to the fact that the native concentration of fetal cells is ext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::583d2901bb45f0af603674d4e88be7ad
https://pubmed.ncbi.nlm.nih.gov/10709468

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[Various biochemical parameters in serum of pregnant women carrying fetuses with various congenital defects of development]

Autor: I M, Roslĭ, E V, Kostiuk, V B, Vakulenko, T V, Zolotukhina

Publikováno v: Genetika. 29(10)

The number of changes in some maternal serum biochemical parameters for some congenital malformations are presented. In all pregnancies we observed low levels of LAT, AST, CPK, HBD, AP and high levels of GGTP, THY, amylase. These data demonstrate tot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fb20b6f017f5b1a18720e9cdc6b4cd15
https://pubmed.ncbi.nlm.nih.gov/8307359

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[Translocation 11q;22q: a clinico-cytogenetic study]

Autor: I V, Lur'e, N V, Rumiantseva, L V, Podleshchuk, S I, Kozlova, V D, Kulak, I V, Naumchik, L B, Gorelik, T V, Zolotukhina, M I, Kuznetsov

Publikováno v: Genetika. 28(10)

Seven families with translocations t(11; 22) identified at our Institute and analysis of the literature showed that the imbalance resulted from such translocations is always due to nondisjunction 3:1. Nondisjunction occurs more often in the 1st meiot

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https://pubmed.ncbi.nlm.nih.gov/1468637

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[Significance of the maternal levels of serum alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol in various congenital developmental defects in pregnancy trimester II]

Autor: E V, Kostiuk, T V, Zolotukhina, M I, Kuznetsov

Publikováno v: Genetika. 28(9)

Maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG) and unconjugated oestriol (uE3) concentrations were measured in maternal serum samples from 21 pregnancies with neural-tube defects, 4 pregnancies with ventral wall defects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cd1af8dcf39275dec9a5ed18e741cd09
https://pubmed.ncbi.nlm.nih.gov/1282117

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[Results of the cytogenetic prenatal diagnosis in the first and second trimesters of pregnancy]

Autor: T V, Zolotukhina, A M, Kuliev

Publikováno v: Akusherstvo i ginekologiia. (7)

The authors analyze the results of prenatal diagnosis carried out in women during the first and second pregnancy trimesters. Cytogenetic screening was carried out in risk-group pregnant women, i.e. in women aged over 36, in cases with family history

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ad8d11b553cce71680e401770bfca952
https://pubmed.ncbi.nlm.nih.gov/1951964

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