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Your search keyword '"Nazarenko, Lyudmila P."' showing total 14 results
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14 results on '"Nazarenko, Lyudmila P."'

1. Duchenne Muscular Dystrophy: Modern Approaches in Patient Management

Author

Anisimova, Inga V., primary, Artemyeva, Svetlana B., additional, Belousova, Elena D., additional, Vashakmadze, Nato D., additional, Vlodavets, Dmitriy V., additional, Gremyakova, Tatiana A., additional, Groznova, Olga S., additional, Guzeva, Valentina I., additional, Gusakova, Elena V., additional, Kuzenkova, Lyudmila M., additional, Kurenkov, Alexey L., additional, Kutsev, Sergey I., additional, Mikhaylova, Svetlana V., additional, Nazarenko, Lyudmila P., additional, Nikitin, Sergey S., additional, Novikov, Artem Yu., additional, Podkletnova, Tatiana V., additional, Polevichenko, Elena V., additional, Polyakov, Alexander V., additional, Prokopyev, Gennady G., additional, Rudenko, Dmitry I., additional, Repina, Svetlana A., additional, Romanenko, Evgeniia V., additional, Ryabykh, Sergey O., additional, Sakbaeva, Gul’zhan E., additional, Sapego, Elena Yu., additional, Selimzyanova, Liliia R., additional, Stepanov, Andrey A., additional, Subbotin, Dmitry M., additional, Suslov, Vasiliy M., additional, Tozliyan, Elena V., additional, Feklistov, Dmirty A., additional, Shakhovskaya, Nadezhda I., additional, and Shreder, Ekaterina V., additional

Published
2023
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4. Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay

Author

Vasilyev, Stanislav A., primary, Skryabin, Nikolay A., additional, Kashevarova, Anna A., additional, Tolmacheva, Ekaterina N., additional, Savchenko, Renata R., additional, Vasilyeva, Oksana Yu., additional, Lopatkina, Maria E., additional, Zarubin, Alexei A., additional, Fishman, Veniamin S., additional, Belyaeva, Elena O., additional, Filippova, Miroslava O., additional, Shorina, Asia R., additional, Maslennikov, Arkadiy B., additional, Shestovskikh, Olga L., additional, Gayner, Tatyana A., additional, Čulić, Vida, additional, Vulić, Robert, additional, Nazarenko, Lyudmila P., additional, and Lebedev, Igor N., additional

Published
2021
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5. 46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

Author

Kashevarova, Anna A., primary, Nikitina, Tatyana V., additional, Mikhailik, Larisa I., additional, Belyaeva, Elena O., additional, Vasilyev, Stanislav A., additional, Lopatkina, Mariya E., additional, Fedotov, Dmitry A., additional, Fonova, Elizaveta A., additional, Zarubin, Aleksei A., additional, Sivtsev, Aleksei A., additional, Skryabin, Nikolay A., additional, Nazarenko, Lyudmila P., additional, and Lebedev, Igor N., additional

Published
2020
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6. Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss

Author

Tolmacheva, Ekaterina N., primary, Kashevarova, Anna A., additional, Nazarenko, Lyudmila P., additional, Minaycheva, Larisa I., additional, Skryabin, Nikolay A., additional, Lopatkina, Maria E., additional, Nikitina, Tatyana V., additional, Sazhenova, Elena A., additional, Belyaeva, Elena O., additional, Fonova, Elizaveta A., additional, Salyukova, Olga A., additional, Tarabykin, Victor S., additional, and Lebedev, Igor N., additional

Published
2020
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7. A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability

Author

Kashevarova, Anna A., primary, Nazarenko, Lyudmila P., additional, Skryabin, Nikolay A., additional, Nikitina, Tatiana V., additional, Vasilyev, Stanislav A., additional, Tolmacheva, Ekaterina N., additional, Lopatkina, Mariya E., additional, Salyukova, Olga A., additional, Chechetkina, Nataliya N., additional, Vorotelyak, Ekaterina A., additional, Kalabusheva, Ekaterina P., additional, Fishman, Veniamin S., additional, Kzhyshkowska, Julia, additional, Graziano, Claudio, additional, Magini, Pamela, additional, Romeo, Giovanni, additional, and Lebedev, Igor N., additional

Published
2018
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9. Conditions for improving basic sports training of 13-14-year-old boxers.

Author

NAZARENKO, LYUDMILA D. and KOLESNIK, IGOR S.

Abstract

At the basic stage of learning, sports training of 13-14-year-old boxers should maintain the interest in a chosen type of sports activity with regard to motivation. This predetermines the necessity of searching for new approaches to the sports training of boxers, finding external and latent properties, abilities, and capacities of the organism to achieve future goals in sports. This research investigates the conditions for improving basic sports training of adolescents. Such conditions determine the training efficiency and competitive activities, raise the number of successful bouts, and requires considering demands for the purpose of sportsmanship improvement. This ensures not only the maintenance, but also sparks the interest in boxing, which evolves into a need for training load and self-fulfillment by means of the chosen sport. [ABSTRACT FROM AUTHOR]

Published
2017
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10. Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

Author

Kashevarova, Anna A, primary, Nazarenko, Lyudmila P, additional, Schultz-Pedersen, Soren, additional, Skryabin, Nikolay A, additional, Salyukova, Olga A, additional, Chechetkina, Nataliya N, additional, Tolmacheva, Ekaterina N, additional, Rudko, Aleksey A, additional, Magini, Pamela, additional, Graziano, Claudio, additional, Romeo, Giovanni, additional, Joss, Shelagh, additional, Tümer, Zeynep, additional, and Lebedev, Igor N, additional

Published
2014
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11. Array CGH analysis of a cohort of Russian patients with intellectual disability.

Author

Kashevarova, Anna A., Nazarenko, Lyudmila P., Skryabin, Nikolay A., Salyukova, Olga A., Chechetkina, Nataliya N., Tolmacheva, Ekaterina N., Sazhenova, Elena A., Magini, Pamela, Graziano, Claudio, Romeo, Giovanni, Kučinskas, Vaidutis, and Lebedev, Igor N.

Subjects
*COMPARATIVE genomic hybridization, *RUSSIANS, *LEARNING disabilities, *MOLECULAR genetics, *DELETION mutation, *DNA copy number variations, *COHORT analysis, *PATIENTS, *DISEASES
Abstract

Abstract: The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). Twenty-six pathogenic or likely pathogenic changes in copy number were detected in 22 patients (28%): 8 CNVs corresponded to known MMSs, and 17 were not associated with previously described syndromes. In this report, we describe our findings and comment on genes potentially associated with ID that are located within the CNV regions. [Copyright &y& Elsevier]

Published
2014
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14. 46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Author

Kashevarova AA, Nikitina TV, Mikhailik LI, Belyaeva EO, Vasilyev SA, Lopatkina ME, Fedotov DA, Fonova EA, Zarubin AA, Sivtsev AA, Skryabin NA, Nazarenko LP, and Lebedev IN

Subjects
Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 8 genetics, Chromosomes, Human, Pair 8 metabolism, Craniofacial Abnormalities metabolism, Genomic Imprinting genetics, Humans, Intellectual Disability metabolism, Karyotype, Karyotyping methods, Male, Membrane Proteins genetics, Mosaicism, Muscle Hypotonia metabolism, Mutation genetics, Nerve Tissue Proteins genetics, Phenotype, Potassium Channels, Tandem Pore Domain genetics, Ring Chromosomes, Craniofacial Abnormalities genetics, Intellectual Disability genetics, Muscle Hypotonia genetics
Abstract

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 mitotic instability. The 8q24 region contains the imprinted KCNK9 gene, which is expressed from the maternal allele. Heterozygous KCNK9 mutations are associated with the imprinting disorder Birk-Barel syndrome. Here, we report a 2.5-year-old boy with developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, feeding problems, motor alalia and noncoarse neurogenic type of disturbance of muscle electrogenesis, partially overlapping with Birk-Barel syndrome phenotype. Cytogenetic analysis of lymphocytes revealed his karyotype to be 46,XY,r(8)(p23q24.3)[27]/45,XY,-8[3]. A de novo 7.9 Mb terminal 8p23.3p23.1 deletion, a 27.1 Mb 8p23.1p11.22 duplication, and a 4.4 Mb intact segment with a normal copy number located between them, as well as a 154-kb maternal LINGO2 gene deletion (9p21.2) with unknown clinical significance were identified by aCGH + SNP array. These aberrations were confirmed by real-time PCR. According to FISH analysis, the 8p23.1-p11.22 duplication was inverted. The ring chromosome originated from maternal chromosome 8. Targeted massive parallel sequencing did not reveal the KCNK9 mutations associated with Birk-Barel syndrome. Our data allow to assume that autosomal monosomy with inactive allele of imprinted gene arising from the loss of a ring chromosome in some somatic cells may be an etiological mechanism of mosaic imprinting disorders, presumably with less severe phenotype.

Published
2020
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