Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Michaela Hyblová"'
Autor:
Anton Karabinos, Michaela Hyblova, Miroslava Eckertova, Erika Tomkova, Drahomira Schwartzova, Nikoleta Luckanicova, Gabriela Magyarova, Gabriel Minarik
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autoso
Externí odkaz:
https://doaj.org/article/f2ee37a9c04549d2835c1244c546405d
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
Autor:
Marcel Kucharik, Andrej Gnip, Michaela Hyblova, Jaroslav Budis, Lucia Strieskova, Maria Harsanyova, Ondrej Pös, Zuzana Kubiritova, Jan Radvanszky, Gabriel Minarik, Tomas Szemes
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0238245 (2020)
To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. We used know
Externí odkaz:
https://doaj.org/article/bb1161995b534136bb456d23dfbea83c
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:
Michaela Hyblova, Maria Harsanyova, Diana Nikulenkov-Grochova, Jitka Kadlecova, Marcel Kucharik, Jaroslav Budis, Gabriel Minarik
Publikováno v:
Diagnostics, Vol 10, Iss 8, p 569 (2020)
Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA seq
Externí odkaz:
https://doaj.org/article/a4da95914c724003b0ee9a01f8d2d894
Autor:
Martina Sekelska, Anita Izsakova, Katarina Kubosova, Petra Tilandyova, Erika Csekes, Zaneta Kuchova, Michaela Hyblova, Maria Harsanyova, Marcel Kucharik, Jaroslav Budis, Tomas Szemes, Gabriel Minarik
Publikováno v:
Diagnostics, Vol 9, Iss 4, p 138 (2019)
Noninvasive prenatal testing (NIPT) is one of the most common prenatal screening tests used worldwide. Trisomy Test® belongs to NIPT tests based on low-coverage whole-genome sequencing. In our prospective study, 7279 samples of pregnant women collec
Externí odkaz:
https://doaj.org/article/148ba3d0439a4c5ba6185952da69540b
Autor:
Gabriel Minarik, Gabriela Repiska, Michaela Hyblova, Emilia Nagyova, Katarina Soltys, Jaroslav Budis, Frantisek Duris, Rastislav Sysak, Maria Gerykova Bujalkova, Barbora Vlkova-Izrael, Orsolya Biro, Balint Nagy, Tomas Szemes
Publikováno v:
PLoS ONE, Vol 10, Iss 12, p e0144811 (2015)
The aims of this study were to test the utility of benchtop NGS platforms for NIPT for trisomy 21 using previously published z score calculation methods and to optimize the sample preparation and data analysis with use of in silico and physical size
Externí odkaz:
https://doaj.org/article/a67abece423847cebb702a881176d7fe
Autor:
Dominik Hadzega, Klaudia Babisová, Michaela Hyblová, Nikola Janostiaková, Peter Sabaka, Pavol Janega, Gabriel Minarik
Publikováno v:
Applied Sciences, Vol 13, Iss 18, p 10431 (2023)
During the recent pandemics of COVID-19, sequencing technics became a powerful tool for gaining information about the SARS-CoV-2 virus and using this knowledge to our advantage. Thanks to this advantage, scientists all over the world were able to sea
Externí odkaz:
https://doaj.org/article/7cacb3c4047a4f68ace5f827df390134
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
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