Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Ludevit, Kadasi"'
Autor:
V.G. Pshennikova, Olga L. Posukh, Gabriel Minarik, Nikolay A. Barashkov, Elza Khusnutdinova, Ludevit Kadasi, Aisen V. Solovyev, Alexander Poliakov, Mait Metspalu, Alena Kushniarevich, M. R. Lalayants, Fedor M. Teryutin, E. A. Bliznetz, Marita S. Bady-Khoo, T. G. Markova, Ene Metspalu, Sardana A. Fedorova
Publikováno v:
Human Genetics. 141:697-707
Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their distribution, being attributed to a foun
Autor:
Eva RADVANSKA, Zuzana POS, Andrea ZATKOVA, Michaela HYBLOVA, Frantisek BAUER, Tomas SZEMES, Ludevit KADASI, Jan RADVANSZKY
Publikováno v:
Bratislavske lekarske listy. 123(8)
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by a central and peripheral motor dysfunction associated with anterior horn cell degeneration, similar to spinal muscular atrophy (SMA).We analysed three probands (later discovered to be sibli
Autor:
Bohumila Jurkovicova-Tarabova, Miriam Kolnikova, Ludevit Kadasi, Lubica Lacinova, Andrea Soltysova, Tomas Foltan, Andrej Ficek, Viktor Demko, Daniela Kluckova
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports
Scientific Reports
Mutations in the voltage-gated sodium channel Nav1.1 (SCN1A) are linked to various epileptic phenotypes with different severities, however, the consequences of newly identified SCN1A variants on patient phenotype is uncertain so far. The functional i
Publikováno v:
The Application of Clinical Genetics. 13:37-47
The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characteriz
Autor:
Daniela Kluckova, Andrea Soltysova, Ludevit Kadasi, Andrej Gnip, Veronika Medova, Andrej Ficek, Tomas Foltan, Csaba Bognar, Miriam Kolnikova, Lucia Svecova
Publikováno v:
Epilepsy research. 176
CDKL5 deficiency disorder (CDD) is an independent clinical entity associated with early-onset encephalopathy, which is often considered the type of epileptic encephalopathy with CDKL5 mutation also found in children diagnosed with early-onset seizure
Autor:
Tomáš Szemes, Jaroslav Budis, Lucia Strieskova, Jan Radvanszky, Zuzana Pös, Angelika Mocova, Ondrej Pös, Jakub Styk, Ludevit Kadasi
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 8634, p 8634 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 8634, p 8634 (2020)
Analyzes of cell-free nucleic acids (cfNAs) have shown huge potential in many biomedical applications, gradually entering several fields of research and everyday clinical care. Many biological properties of cfNAs can be informative to gain deeper ins
Autor:
Tomáš Szemes, Jan Radvanszky, Michaela Hyblova, Gabriel Minarik, E. Goncalvesova, Emilia Nagyova, V. Simovicova, Folkert W. Asselbergs, Ludevit Kadasi
Publikováno v:
Bratislava Medical Journal. 120:46-51
OBJECTIVES For the first time we used targeted next-generation sequencing to detect candidate pathogenic variants in Slovak cardiomyopathy patients. BACKGROUND Targeted next-generation sequencing is considered to be the best practice in genetic diagn
Autor:
Peter Spalek, Alica Valachova, Eva Radvanska, Ludevit Kadasi, Emil Polak, Tomáš Szemes, Jan Radvanszky, Gabriela Magyarova, Csaba Bognar, Michaela Hyblova
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 3934, p 3934 (2021)
Journal of Clinical Medicine
Volume 10
Issue 17
Journal of Clinical Medicine
Volume 10
Issue 17
Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)n repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population.
Publikováno v:
The Application of Clinical Genetics
The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characteriz
Autor:
Ludevit Kadasi, Kamila Réblová, Dagmar Procházková, Martina Pecimonova, Frantisek Csicsay, Ludovit Skultety, Andrea Soltysova, Ján Krahulec, Daniela Kluckova
Publikováno v:
Genes, Vol 10, Iss 6, p 459 (2019)
Genes
Volume 10
Issue 6
Genes
Volume 10
Issue 6
The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the identification o