Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eva Hladílková"'
Autor:
Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopme
Externí odkaz:
https://doaj.org/article/553c39dc21554bb8bf291f2161880eb2
Autor:
Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova, Petr Kuglik
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
Abstract Background Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). Methods In our study, w
Externí odkaz:
https://doaj.org/article/42c14baaa91d4bca8a0a64c3d64959f7
Autor:
Marcela Vilémová, Jan Oppelt, Vladimíra Vallová, Hana Polackova, Michal Ryzí, Petr Kuglík, Lenka Krskova, Eva Hladílková, Renata Gaillyová, Marketa Wayhelova
Publikováno v:
Neurogenetics. 21(4)
Pathogenic sequence variants in the IQ motif– and Sec7 domain–containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ee791b30ff97a98331c9082a3c46a1
https://pubmed.ncbi.nlm.nih.gov/32564198
https://pubmed.ncbi.nlm.nih.gov/32564198
Autor:
Petra Nikolova, Jan Smetana, Eva Makaturova, Marketa Wayhelova, Jan Oppelt, Renata Gaillyová, Hana Filková, Petr Kuglík, Rastislav Beharka, Eva Hladílková
Publikováno v:
Molecular Medicine Reports
De novo sequence variants, including truncating and splicing variants, in the additional sex-combs like 3 gene (ASXL3) have been described as the cause of Bainbridge-Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acc8c6514f81c1f29be42a3c599cf037
https://doi.org/10.3892/mmr.2019.10303
https://doi.org/10.3892/mmr.2019.10303
Autor:
Petr Kuglík, Hana Filková, Renata Gaillyová, Marketa Wayhelova, Jana Šoukalová, Eva Hladílková, Jan Smetana, Jan Oppelt
Publikováno v:
Journal of Neurological Disorders. 5
Early infantile epileptic encephalopathy/Ohtahara syndrome represents a group of genetically heterogeneous disorders affecting normal brain development and functioning. In this work, we present a case of two unrelated children diagnosed with early in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::670409c430876a6bb640007099142e36
https://doi.org/10.4172/2329-6895.1000369
https://doi.org/10.4172/2329-6895.1000369