Zobrazeno 1 - 6
of 6
pro vyhledávání: '"S. Y. Chernushyn"'
Publikováno v:
Cytology and Genetics. 52:294-298
Mutations in the MECP2 gene are known to cause Rett syndrome (RTT)—a neurodevelopmental disorder, one of the most common causes of intellectual disability in females, with an incidence of 1 in 10000–15000. We have investigated exons 3 and 4 of th
Autor:
Liudmyla Livshits, Inga Prokopenko, Iryna Vorobiova, Marika Kaakinen, Yurii Antipkin, Olexandra Gorodna, R. V. Gulkovskyi, Loizidou Em, A. M. Kucherenko, G. B. Livshyts, P. F. Tatarskyy, S. Y. Chernushyn
Recurrent pregnancy loss (RPL) affects nearly 5% of the women of reproductive age. Its heterogeneous and multifactorial nature complicate both diagnosis and treatment, as well as identification of the genetic contribution to RPL. Evidence about the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a74a98d74e5d2d02bc0531bee1413b
https://doi.org/10.1101/603431
https://doi.org/10.1101/603431
Publikováno v:
Biopolymers and Cell, Vol 31, Iss 2, Pp 123-130 (2015)
Aim. To evaluate a possible role of a novel c.A212G substitution in the PUS3 gene at intellectual disability (ID). Methods. The observed group consisted of the ID Ukrainian family members (parents and two affected children) and the control group –
Publikováno v:
TSitologiia i genetika. 49(4)
It was shown that some mutations in a number of zinc finger protein (Znf) genes cause intellectual disability (ID). In our study in two affected siblings with ID exome analysis revealed the homozygous coding sequence (cds) indel rs386809049 in the ZN
Publikováno v:
Biopolymers and Cell, Vol 29, Iss 6, Pp 506-510 (2013)
Aim. Analysis the EPHA1 gene G1475A and G1891A alleles distribution in the population of Ukraine, and to study the protein secondary structure as the first step in the investigation of EPHA1 gene involvement in intellectual disability pathogenesis. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29770efc6fa8bb8784ba70581cca9996
http://dspace.nbuv.gov.ua/handle/123456789/153675
http://dspace.nbuv.gov.ua/handle/123456789/153675
Publikováno v:
Scopus-Elsevier
It was shown that some mutations in a number of zinc finger protein (Znf) genes cause intellectual disability (ID). In our study in two affected siblings with ID exome analysis revealed the homozygous coding sequence (cds) indel rs386809049 in the ZN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00de79976211de4511cdfe98fea0d08b
http://www.scopus.com/inward/record.url?eid=2-s2.0-84945126484&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-84945126484&partnerID=MN8TOARS