Výsledky vyhledávání

Rett syndrome in Russia and abroad: a scientific historical review

Autor: S. G. Vorsanova, Yu. B. Yurov, V. Yu. Voinova, I. Yu. Yurov

Publikováno v: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 3, Pp 25-31 (2020)

This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d701590fc3469c7e995eb5f446a7d45
https://www.ped-perinatology.ru/jour/article/view/1146

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The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies

Autor: S. G. Vorsanova, I. V. Solovyev, O. S. Kurinnaya, V. S. Kravets, A. D. Kolotii, I. A. Demidova, V. O. Sharonin, Yu. B. Yurov, I. Yu. Yurov

Publikováno v: Rossijskij Vestnik Perinatologii i Pediatrii, Vol 65, Iss 2, Pp 40-48 (2020)

The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. Th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bccde29a6dfeaa337330c6c28dcd6ab5
https://www.ped-perinatology.ru/jour/article/view/1106

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Serologic Markers of Autism Spectrum Disorder

Autor: Svetlana G. Vorsanova, A. A. Schetkin, T. V. Khramova, Yuri D. Ivanov, Anna L. Kaysheva, Yu. B. Yurov, Tatyana O. Pleshakova, Ivan Y. Iourov, Alexander I. Archakov

Publikováno v: Journal of Molecular Neuroscience. 62:420-429

According to WHO data, about 67 million people worldwide are affected by autism, and this number grows by 14% annually. Among the possible causes of autism are genetic modifications, organic lesions of the central nervous system, metabolic disorders,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3383e8318e89445e34a09897f0f8a1b
https://doi.org/10.1007/s12031-017-0950-9

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Annotation of suprachromosomal families reveals uncommon types of alpha satellite organization in pericentromeric regions of hg38 human genome assembly

Autor: Ivan Alexandrov, A. A. Alexandrov, V. A. Shepelev, Yu. B. Yurov, Evgeny I. Rogaev, Lev Uralsky

Publikováno v: Genomics Data, Vol 5, Iss C, Pp 139-146 (2015)
Genomics Data

Centromeric alpha satellite (AS) is composed of highly identical higher-order DNA repetitive sequences, which make the standard assembly process impossible. Because of this the AS repeats were severely underrepresented in previous versions of the hum

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0beb7bb7437a65fd2820a858c44ad6e
https://doi.org/10.1016/j.gdata.2015.05.035

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