Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Michaela HYBLOVA"'
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:
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
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:
Lucia Krivosikova, Tereza Kuracinova, Peter Martanovic, Michaela Hyblova, Jozef Kaluzay, Alexandra Uhrinova, Pavol Janega, Pavel Babal
Publikováno v:
Viruses, Vol 15, Iss 9, p 1810 (2023)
After the acute phase of COVID-19, some patients develop long COVID. This term is used for a variety of conditions with a complex, yet not fully elucidated etiology, likely including the prolonged persistence of the virus in the organism and progress
Externí odkaz:
https://doaj.org/article/cb56b14f7a1448d18c271b59402d2751
Autor:
Michaela Hyblova, Dominik Hadzega, Klaudia Babisova, Patrik Krumpolec, Andrej Gnip, Peter Sabaka, Stefan Lassan, Gabriel Minarik
Publikováno v:
Microorganisms, Vol 11, Iss 7, p 1804 (2023)
The recent global emergence of the SARS-CoV-2 pandemic has accelerated research in several areas of science whose valuable outputs and findings can help to address future health challenges in the event of emerging infectious agents. We conducted a co
Externí odkaz:
https://doaj.org/article/75d38aaeb6004683ab9bd4530b1291f3
Autor:
Michaela Hyblova, Andrej Gnip, Marcel Kucharik, Jaroslav Budis, Martina Sekelska, Gabriel Minarik
Publikováno v:
Diagnostics, Vol 12, Iss 12, p 3056 (2022)
Non-invasive prenatal testing (NIPT) has become a routine practice in screening for common aneuploidies of chromosomes 21, 18, and 13 and gonosomes X and Y in fetuses worldwide since 2015 and has even expanded to include smaller subchromosomal events
Externí odkaz:
https://doaj.org/article/888319e9c9584fc89919b53cdedaa5cf
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
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