Search Results - "Minaycheva, L. I."

Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability by Kashevarova, A. A., Belyaeva, E. O., Fonova, E. A., Lopatkina, M. E., Vasilyeva, O. Y., Fedotov, D. A., Zarubin, A. A., Sivtsev, A. A., Demeneva, V. V., Salyukova, O. A., Petrova, V. V., Fadiushina, S. V., Minaycheva, L. I., Seitova, G. N., Nazarenko, L. P., Lebedev, I. N.

“…IntroductionaCGH determines pathogenic copy number variations (CNVs) in about 10% of patients with intellectual disability (ID). In another 20% of patients,…”
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A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication by Karamysheva, T V, Lebedev, I N, Minaycheva, L I, Nazarenko, L P, Kashevarova, A A, Fedotov, D A, Skryabin, N A, Lopatkina, M E, Cheremnykh, A D, Fonova, E A, Nikitina, T V, Sazhenova, E A, Skleimova, M M, Kolesnikov, N A, Drozdov, G V, Yakovleva, Y S, Seitova, G N, Orishchenko, K E, Rubtsov, N B

“…Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the…”
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Experience of observing patients with Duchenne myopathy by Minaycheva, L. I., Petlina, E. Yu, Ravzhaeva, E. G., Seitova, G. N.

“…Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease…”
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Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies by Fonova, E. A., Kashevarova, A. A., Lopatkina, M. E., Sivtsev, A. A., Zarubin, A. A., Demeneva, V. V., Seitova, G. N., Minaycheva, L. I., Salyukova, O. A., Fadyushina, S. V., Petrova, V. V., Belyaeva, E. O., Nazarenko, L. P., Lebedev, I. N.

“…Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual…”
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Generation of Induced Pluripotent Stem Cell Line iTAF15Xsk4 from Fibroblasts of a Patient with Microdeletion at Xq24 by Pristyazhnyuk, I. E., Meshcheryakov, N. I., Nikitina, T. V., Kashevarova, A. A., Fedotov, D. A., Tolmacheva, E. N., Minaycheva, L. I., Nazarenko, L. P., Lebedev, I. N., Menzorov, A. G.

“…Differentiation of induced pluripotent stem cells (iPSCs) from patients and healthy donors allows in vitro study of genetic disorders. The authors have…”
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Generation of iPS cell line (ICGi040-A) from skin fibroblasts of a patient with ring small supernumerary marker chromosome 4 by Gridina, M.M., Nurislamov, A.R., Minina, J.M., Lopatkina, M.E., Drozdov, G.V., Vasilyev, S.A., Minaycheva, L.I., Belyaeva, E.O., Nikitina, T.V., Kashevarova, A.A., Lebedev, I.N., Karamysheva, T.V., Rubtsov, N.B., Serov, O.L.

“…Human induced pluripotent stem cell (iPSC) line, ICGi040-A, was obtained from skin fibroblasts derived from a male patient with mosaic ring small supernumerary…”
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Association of celiac disease genetic markers with reproduction disorders by Minaycheva, L. I., Bragina, E. Yu, Zhalsanova, I. Zh, Chesnokova, N. A., Marusin, A. V.

“…Background : Numerous studies have shown a link between genes involved in the immune response and infertility and miscarriage. The most significant…”
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Medical genetic study of population in rural districts of Buryatia Republic by L. I. Minaycheva, L. P. Nazarenko, Ye. R. Yeryomina, V. B. Tsyrenova, O. A. Salyukova, S. V. Fadyushina, V. B. Ayushina

“…Medical-genetic study of the population of 5 rural districts of Buryatia Republic has been performed. The number of investigative population was 114,6…”
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Replicative Association Analysis of Genetic Markers of Obesity in the Russian Population by Trifonova, E. A., Popovich, A. A., Makeeva, O. A., Minaycheva, L. I., Bocharova, A. V., Vagaitseva, K. V., Stepanov, V. A.

“…A replicative analysis of associations with obesity of 53 polymorphic markers associated with the results of genome-wide studies with variability of the body…”
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Analysis of the Association of Haplotypes with Alzheimer’s Disease and Mild Cognitive Impairment in the Russian Population by Vagaitseva, K. V., Bocharova, A. V., Kolesnikova, E. A., Markova, V. V., Makeeva, O. A., Minaycheva, L. I., Zhukova, I. A., Zhukova, N. G., Stepanov, V. A.

“…Haplotype associations of 894 DNA samples of elderly people from the Russian population of Tomsk were analyzed using 49 SNPs (single nucleotide polymorphisms)…”
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Epigenetic status of imprinted genes in placenta during recurrent pregnancy loss by Sazhenova, E. A., Nikitina, T. V., Skryabin, N. A., Minaycheva, L. I., Ivanova, T. V., Nemtseva, T. N., Yuriev, S. Yu, Evtushenko, I. D., Lebedev, I. N.

“…An analysis of differential methylation of 47 imprinted genes in placenta tissues of spontaneous abortions at the first trimester of pregnancy from women with…”
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Prevalence of alleles of polymorphic variants Leu33Pro and Leu66Arg gene ITGB3 among inhabitants of Siberia by Goncharova, I. A., Babushkina, N. P., Minaycheva, L. I., Markova, V. V., Kulish, E. V., Salakhov, R. R., Makeeva, O. A., Puzyrev, V. P.

“…The frequency of the polymorphic variant T196C (Leu33Pro, rs5918) of ITGB3 gene was studied in several groups of inhabitants of Siberia, including women with…”
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Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia by Bushueva, T V, Kuzenkova, L M, Borovik, T É, Nazarenko, L P, Seitova, G N, Filimonova, M N, Pichkur, N A, Samonenko, N V, Shkurko, T A, Akhmadeeva, É N, Mardanova, A K, Garifullina, É R, Kovtun, O P, Bazhenova, Iu L, Alimova, I L, Kostiakova, E A, Minaĭcheva, L I, Saliukova, O A, Sivokha, V M, Rozenson, O L

“…Phenylketonuria (PKU) is an autosomal recessive inherited disease associated with impaired metabolism of the amino acids phenylalanine (Phe) and tyrosine. The…”
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