Search Results - "Kashevarova, A A"

Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming by Nikitina, T. V., Kashevarova, A. A., Gridina, M. M., Lopatkina, M. E., Khabarova, A. A., Yakovleva, Yu. S., Menzorov, A. G., Minina, Yu. A., Pristyazhnyuk, I. E., Vasilyev, S. A., Fedotov, D. A., Serov, O. L., Lebedev, I. N.

“…Human ring chromosomes are often unstable during mitosis, and daughter cells can be partially or completely aneuploid. We studied the mitotic stability of four…”
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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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Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype by Belyaeva, E., Kashevarova, A., Drozdov, G., Fedotov, D., Lebedev, I.

“…IntroductionAbout 66% of chromosomal microdeletions and microduplications associated with pathological conditions are inherited [Smajlagić D. et al., 2021]…”
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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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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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Identification of candidate genes of intellectual disability by single-gene deletions/amplifications mapping using chromosomal microarray analysis by Kashevarova, A., Lopatkina, M., Belyaeva, E., Fedotov, D., Drozdov, G., Nazarenko, L., Lebedev, I.

“…IntroductionDisease-causing deletions/amplifications may include a single gene, several exons or single/part of exon, contributing to detection of novel…”
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Identification of differentially methylated genes in first-trimester placentas with trisomy 16 by Tolmacheva, Ekaterina N., Vasilyev, Stanislav A., Nikitina, Tatiana V., Lytkina, Ekaterina S., Sazhenova, Elena A., Zhigalina, Daria I., Vasilyeva, Oksana Yu, Markov, Anton V., Demeneva, Victoria V., Tashireva, Liubov A., Kashevarova, Anna A., Lebedev, Igor N.

“…The presence of an extra chromosome in the embryo karyotype often dramatically affects the fate of pregnancy. Trisomy 16 is the most common aneuploidy in…”
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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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Integration of blockchain and artificial intelligence as a mechanism for modernisation of various economic sectors by Kashevarova, N. A., Kulikova, M. E.

“…The purpose of this article is to consider the prospects for the integration of blockchain and artificial intelligence (hereinafter referred to as AI) as an…”
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Generation of iPSC line ICGi024-A from human skin fibroblasts of a patient with ring chromosome 18 by Khabarova, A.A., Pristyazhnyuk, I.E., Orlova, P.A., Nikitina, T.V., Kashevarova, A.A., Lopatkina, M.E., Belyaeva, E.O., Sukhanova, N.N., Nazarenko, L.P., Lebedev, I.N., Serov, O.L.

“…Ring chromosome 18 is a rare chromosomal disorders that usually originate de novo and correlate with clinical manifestation: developmental delay as well as…”
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Establishment of an induced pluripotent stem cell line (ICGi025-A) from fibroblasts of a patient with 46,XY,r(8)/45,XY,–8 mosaicism by Gridina, M.M., Nikitina, T.V., Orlova, P.A., Minina, J.M., Kashevarova, A.A., Yakovleva, Yu.S., Lopatkina, M.E., Vasilyev, S.A., Fedotov, D.A., Mikhailik, L.I., Nazarenko, L.P., Lebedev, I.N., Serov, O.L.

“…Ring chromosomes are structural aberrations commonly associated with disease phenotype. We consider necessary to create the iPSCs with a ring chromosome 8,…”
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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by Skryabin, N. A., Vasilyev, S. A., Nikitina, T. V., Zhigalina, D. I., Savchenko, R. R., Babushkina, N. P., Lopatkina, M. E., Kashevarova, A. A., Lebedev, I. N.

“…Recurrent pregnancy loss (RPL) is a severe reproductive pathology with a significant component of unexplained etiology. Extended homozygous regions as a…”
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Genomic architecture of human chromosomal diseases by Kashevarova, A. A., Lebedev, I. N.

“…The genomic architecture predisposed to the emergence of DNA copy number variation causing a new class of human chromosomal diseases—reciprocal microdeletion…”
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Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing by Lebedev, Igor, Karamysheva, Tatyana, Elisaphenko, Eugeny, Makunin, Alexey, Zhigalina, Daria, Lopatkina, Maria, Drozdov, Gleb, Cheremnykh, Aleksander, Torkhova, Natalia, Seitova, Gulnara, Vasilyev, Stanislav, Kashevarova, Anna, Nazarenko, Ludmila, Rubtsov, Nikolay

“…Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic…”
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Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13 by Nikitina, T.V., Menzorov, A.G., Kashevarova, A.A., Gridina, M.M., Khabarova, A.A., Yakovleva, Yu.S., Lopatkina, M.E., Pristyazhnyuk, I.E., Vasilyev, S.A., Serov, O.L., Lebedev, I.N.

“…Skin fibroblasts from a patient with neurodevelopmental and speech delay, anxiety disorder, macrocephaly, microorchidism, multiple anomalies of internal organs…”
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Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene by Gridina, M.M., Nikitina, T.V., Pristyazhnyuk, I.E., Kashevarova, A.A., Lopatkina, M.E., Vasilyev, S.A., Nazarenko, L.P., Lebedev, I.N., Serov, O.L.

“…The 3p26.3 microduplication involving the CNTN6 gene cause developmental delay and the intellectual disability. However, the incomplete penetrance is described…”
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Non-fungible token: a promising digital tool for business by Kashevarova, N. A., Starikova, I. S.

“…This paper presents a review of the current status and development trends of the non-fungible tokens’ technology (NFT), which are digital rights to unique…”
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Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability by Shnaider, T.A., Pristyazhnyuk, I.E., Menzorov, A.G., Matveeva, N.M., Nikitina, T.V., Khabarova, A.A., Skryabin, N.A., Kashevarova, A.A., Lopatkina, M.E., Nazarenko, L.P., Lebedev, I.N., Serov, O.L.

“…The human induced pluripotent stem cell (iPSC) lines, ICGi009-A, ICGi009-B, ICGi013-A and ICGi013-B, were generated from skin fibroblasts of two siblings with…”
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Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability by Lopatkina, M. E., Kashevarova, A. A., Lebedev, I. N.

“…Analysis of the prevalence of copy number variations of the CNTN6 gene, recently selected as a new candidate gene for intellectual disorders, was performed…”
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