Zobrazeno 1 - 10 of 19 pro vyhledávání: '"V G, Vakharlovskiĭ"'
2
[Molecular genetic basis of proximal spinal muscular atrophy and experience in its pharmaceutical treatment]
Autor: V S, Baranov, A V, Kiselev, V G, Vakharlovskiĭ, G Iu, Zhelezniakova, V N, Komantsev, O V, Malysheva, A S, Glotov, T E, Ivashchenko, A N, Baranov
Publikováno v: Genetika. 44(10)
The review considers the original and published data on the molecular genetic basis of proximal spinal muscular atrophy (SMA), the most common monogenic neuromuscular disease. The structures of the SMN1 gene and SMN2 pseudogene, mutations distorting
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ef815acf1a5da4994d7a6fce55fe17fd
https://pubmed.ncbi.nlm.nih.gov/19062530
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3
[Clinical polymorphism in respiratory oxalosis]
Autor: G P, Pospekhova, V G, Antonov, T S, Razorenova, V G, Vakharlovskiĭ
Publikováno v: Terapevticheskii arkhiv. 73(3)
Examination of clinical polymorphism of chronic obstructive pulmonary diseases (COPD) in defects of oxalate metabolism to make diagnostic outpatient screening of the preclinical stage.Diagnostic dysgenetic markers of respiratory oxalosis (RO)--red ha
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a7cbf3e4133e116580af5841bb71cb5f
https://pubmed.ncbi.nlm.nih.gov/11417184
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4
[Contents of alpha-fetoprotein in the blood of pregnant women as a criterion of the presence of congenital heart defects in the fetus]
Autor: V G, Vakharlovskiĭ, V N, Gorbunova, T K, Kashcheeva
Publikováno v: Akusherstvo i ginekologiia. (4)
alpha-Fetoprotein (AFP) was measured in the blood of 16 women pregnant with twins at various terms of gestation and 24 pregnant women whose fetuses were found to have anencephaly, patent spina bifida, gastroschisis, renal polycystosis, or Down's dise
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9e9981f3128820c2c51c32b6986429c6
https://pubmed.ncbi.nlm.nih.gov/7485753
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8
[Molecular defect of ceruloplasmin synthesis and maturation in Wilson-Konovalov disease]
Autor: L V, Puchkova, V G, Vakharlovskiĭ, V S, Gaĭtskhoki, N K, Monakhov, A L, Shvartsman
Publikováno v: Genetika. 18(5)
The radioimmunochemical study of ceruloplasmin-synthesizing polyribosomes was carried out using bioptic liver specimens obtained from fourteen homozygous patients with hepatolenticular degeneration (Wilson--Konovalov disease) and from eight control p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3cb0b0104ac7c2db0c8b7a801400618
https://pubmed.ncbi.nlm.nih.gov/7201432
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10
[Experience in heterozygote detection in Wilson-Konovalov mutation based on the study of molecular forms of ceruloplasmin]
Autor: L V, Puchkova, I A, Verbina, V G, Vakharlovskiĭ, V S, Gaĭtskhoki, S A, Neĭfakh
Publikováno v: Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952). 89(12)
A specific novel molecular form of ceruloplasmin (CP) was detected in the sera of Wilson's disease patients and their closest relatives using two-dimensional cross-immunoelectrophoresis. This protein shares some antigenic properties with normal CP bu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8b70ed5969d08d28ba67807ce2af2284
https://pubmed.ncbi.nlm.nih.gov/2633562
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