Search Results - "Salyukova, O. A."

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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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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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing by Sivtsev, A A, Zhalsanova, I Zh, Postrigan, A E, Fonova, E A, Vasilyeva, O Yu, Zarubin, A A, Minaicheva, L I, Agafonova, A A, Petrova, V V, Ravzhaeva, E G, Salyukova, O A, Skryabin, N A

“…The study aimed to search for mutations in the ATP7B gene using massively parallel sequencing in patients with Wilson disease in the Tomsk region. For 42…”
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Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization by Kashevarova, A A, Skryabin, N A, Cheremnykh, A D, Tolmacheva, E N, Sazhenova, E A, Salyukova, O A, Chechetkina, N N, Didenko, L I, Sukhanova, N N, Yakovleva, Yu S, Torkhova, N B, Nazarenko, L P, Magini, P, Graziano, C, Romeo, G, Lebedev, I N

“…In this study authors searched for chromosomal aberrations in 71 children with developmental delay or idiopathic mental retardation using Human Genome CGH…”
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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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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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