Search Results - "Sivtsev, A. 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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Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene by Zhigalina, D.I., Malakhova, A.A., Vasilyeva, O.Yu, Grigor'eva, E.V., Sivtsev, A.A., Kolesnikov, N.A., Lopatkina, M.E., Savchenko, R.R., Zhalsanova, I.Zh, Postrigan', A.E., Zarubin, A.A., Nikitina, T.V., Bueverov, A.O., Bogomolov, P.O., Zakian, S.M., Skryabin, N.A.

“…Wilson’s disease is a rare autosomal recessive disorder of copper metabolism. The copper accumulation in the viscera appears due to the functional impairment…”
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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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46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study by Kashevarova, Anna A, Nikitina, Tatyana V, Mikhailik, Larisa I, Belyaeva, Elena O, Vasilyev, Stanislav A, Lopatkina, Mariya E, Fedotov, Dmitry A, Fonova, Elizaveta A, Zarubin, Aleksei A, Sivtsev, Aleksei A, Skryabin, Nikolay A, Nazarenko, Lyudmila P, Lebedev, Igor N

“…Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to…”
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Features of the geological structure of oil and gas fields in the east of the Siberian platform as a condition for improving the declarative principle of licensing in the Arctic zone by Sivtsev, A.I., Ivanova, T.S.

“…The article considers the distinctive features of the geological structure of oil and gas fields in the Republic of Sakha (Yakutia). A direct correlation has…”
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Predictive Modelling of the Frozen Base of Pile Foundation Buildings with Temperature Control of the Underfloor Space by Kornilov, T. A., Nikiforov, A. Ya, Sivtsev, M. A.

“…The possibility of using a heat-insulated underfloor space with controlled temperature for low-rise buildings on pile foundations in permafrost conditions is…”
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Ionitriding of automobile parts by Sivtsev, A. T., Shkurko, N. V., Akhant'ev, V. P.

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Fate of the transplant in various methods of antero-lateral spondylodesis in patients with tubercular spondylitis by Sivtsev, S A

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Surgical treatment of fistulous forms of tuberculous spondylitis by Sivtsev, S A

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Some peculiarities of the surgical treatment of tubercular spondylitis by Sivtsev, S A

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The L-shaped incision in the retroperitoneal approach to the lumbar vertebral bodies by Sivtsev, S A

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RARE CASE OF DESTRUCTION OF THE PELVIC RING IN TUBERCULOUS COXITIS WITH RECONSTRUCTIVE SURGERY by SIVTSEV, S A

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Dorsal skin fibroma in a patient with tuberculous spondylitis by Sivtsev, S A

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Surgical treatment of tuberculous spondylitis in the middle-aged and old by Sivtsev, S A, Guseinov, G K

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