P V Novikov

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Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in methyl-CpG-binding protein 2 gene (MECP2). We carried out a mutations analysis in Russian cohort of patients with RTT. MECP2 mutations were found in 23 of 28 RTT girls and one boy (82%). Thirteen different types of mutations have been identified: 6 nonsense, 5 missense and 2(More)
Rett's syndrome (RTT) is a severe hereditary disorder of the nervous system. MECP2 gene mutations are considered as a primary cause of the disease. In the present study, we have found MECP2 mutations in 33 (84.6%) out of 39 RTT females. We have also studied X-inactivation patterns in 70 girls with RTT. A frequency of skewed X-inactivation was 37% (26(More)
The article is dedicated to the problems of intellectual disorders in children suffering from congenital and hereditary diseases, and reflects the issues of the medicosocial significance of neuropsychical impairment in children and the proportion of ethiological factors in the genesis of mental retardation. The authors consider modern diagnostic and(More)
Computer-based genetical register "GENREG" allows to carry out a prophylactic medical examination for families with children, having hereditary diseases, multifactorial pathology and congenital developmental defects of various nature, and also epidemiological examination. Automated consultative system for pre-laboratory diagnosis of genetically determined(More)
The article presents the results of analysis of long-chained fat acids, fitanic acid and pristanic acid using gas chromatography method. The information is provided concerning the biochemical characteristics of mentioned compounds and their biologic role. The procedure of their analysis is described. The reference values of levels of main long-chained fat(More)
Polymorphism of the AB0 blood groups, haptoglobin Hp, vitamin-D-binding protein (Gc), transferrin (Tf), alpha 1-antitrypsin (alpha 1-AT) and serum alkaline phosphatase (Pp) was studied in a group of children suffering from rickets (VDDR) and in a adequate control group of healthy individuals of the same sex-age composition. Considerable differences were(More)