Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Michaela Hýblová"'
Autor:
Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvánszky, Jaroslav Budiš, Tomáš Szemes
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uni
Externí odkaz:
https://doaj.org/article/669e2d0d78c04bf7beeae744c9539f70
Autor:
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated
Externí odkaz:
https://doaj.org/article/0b379a1de883407db431fdd402fb9fb5
Publikováno v:
Diagnostics, Vol 11, Iss 4, p 708 (2021)
Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated. CNVs contribute substantially to normal population variability, ho
Externí odkaz:
https://doaj.org/article/8f8d9732e88c4039a7c0aa62d9591897
Autor:
Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvanszky, Jaroslav Budiš, Tomáš Szemes
Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uniform the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1f4bed49e24fb1780953e3a10c74fdb
https://doi.org/10.1101/2022.12.23.521405
https://doi.org/10.1101/2022.12.23.521405
Autor:
Michaela Hýblová, Vanda Rísová, Jan Miertus, Darina Ďurovčíková, Erika Tomková, Matteo Bertelli, Paolo Enrico Maltese
Publikováno v:
Journal of Biotechnology. 311:44-48
Rare genetic diseases and syndromes may appear with unique features in some patients. In genetically-solved cases, this situation indicates a phenotypic expansion of the syndrome with additional features (i.e. the disease-associated gene gives rise t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbfc3b9f3340114904119b66c9730eab
https://doi.org/10.1016/j.jbiotec.2020.02.011
https://doi.org/10.1016/j.jbiotec.2020.02.011
Autor:
Zuzana Holesova, Ondrej Pös, Juraj Gazdarica, Marcel Kucharik, Jaroslav Budis, Michaela Hyblova, Gabriel Minarik, Tomas Szemes
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the evolution and development of vario
Externí odkaz:
https://doaj.org/article/e2724069ca334bb2904c9e72e6f86bea
Publikováno v:
Diagnostics
Volume 11
Issue 4
Diagnostics, Vol 11, Iss 708, p 708 (2021)
Volume 11
Issue 4
Diagnostics, Vol 11, Iss 708, p 708 (2021)
Copy number variations (CNVs) represent a type of structural variant involving alterations in the number of copies of specific regions of DNA that can either be deleted or duplicated. CNVs contribute substantially to normal population variability, ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fab947732125ded6a24da346e9e0c503
https://pubmed.ncbi.nlm.nih.gov/33920867
https://pubmed.ncbi.nlm.nih.gov/33920867
Copy number variations (CNVs) are a type of structural variants involving alterations in the number of copies of specific regions of DNA, which can either be deleted or duplicated. CNVs contribute substantially to normal population variability; howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0034b0c301062f335d25258ebc3ac1d0
https://doi.org/10.1101/2020.09.07.20183665
https://doi.org/10.1101/2020.09.07.20183665
Autor:
Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants in the survival of motor neuron 1 gene (SMN1). SMN1 is located in a duplicated region o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4f5913a70ade405c152c5e900ea238ba
https://pubmed.ncbi.nlm.nih.gov/32337852
https://pubmed.ncbi.nlm.nih.gov/32337852
Autor:
Juraj Gazdarica, Natalia Forgacova, Tomas Sladecek, Marcel Kucharik, Jaroslav Budis, Michaela Hyblova, Martina Sekelska, Andrej Gnip, Gabriel Minarik, Tomas Szemes
Publikováno v:
PLoS ONE, Vol 19, Iss 3, p e0280858 (2024)
The discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fet
Externí odkaz:
https://doaj.org/article/4534c0d8a6454f4e93479f59541e5fb6