Search Results - "Lopatkina, M."

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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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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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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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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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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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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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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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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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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Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22 by Nikitina, T.V., Menzorov, A.G., Kashevarova, A.A., Gridina, M.M., Khabarova, A.A., Yakovleva, Yu.S., Lopatkina, M.E., Kizilova, E.A., Vasilyev, S.A., Serov, O.L., Lebedev, I.N.

“…Skin fibroblasts from a patient with intellectual disability and ring chromosome 22 were reprogrammed into induced pluripotent stem cells (iPSCs) to establish…”
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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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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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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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P-544 CNV is a genetic factor underlying risk of neurodevelopmental disorder in a child of a woman with miscarriage in anamnesis by Fedotov, D, Kashevarova, A, Lopatkina, M, Vasilyeva, O, Belyaeva, E, Nazarenko, L, Lebedev, I

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Transcriptome Analysis as a Tool for Investigation of Pathogenesis of Chromosomal Diseases by Lopatkina, M. E., Lebedev, I. N.

“…The aspects of transcriptional profiles of cells with chromosomal imbalance are discussed. There are certain difficulties in the assessment of phenotypic…”
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Identification Information Value of Standard Autosomal STR in Populations of Indigenous Peoples of Russia in Determination of First Degree Relationship by Vagaitseva, K. V., Lopatkina, M. E., Kolesnikov, N. A., Kharkov, V. N., Stepanov, V. A.

“…The effects of the demographic history of mankind have led to the fact that the indigenous peoples of Dagestan and Siberia are inferior in terms of genetic…”
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Estimation of the Prevalence and Parental Origin of Chromosomal Microdeletions and Microduplications Affecting the CNTN6 Gene in Patients with Neurodevelopmental Disorders and Healthy Individuals by Lopatkina, M. E., Ivanova, S. A., Lebedev, I. N.

“…An analysis of the prevalence of the CNTN6 gene microdeletions and microduplications in patients with neurodevelopmental disorders and healthy individuals was…”
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System for automatic control of the temperature conditions in texturing of synthetic fibres by Lopatkina, M V, Rumyantsev, Yu D, Lysachenko, I V

“…A design for a heater that allows realizing a system for control of heating of textured fibre using the contact time of the fibre with the heater as the…”
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