Zobrazeno 1 - 10
of 57
pro vyhledávání: '"Ludevit KADASI"'
Autor:
Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh, Nazli Başak, Ruwen Böhm, Joseph Borg, Paola Borgiani, Nada Bozina, Henrike Bruckmueller, Beata Burzynska, Angel Carracedo, Ingolf Cascorbi, Constantinos Deltas, Vita Dolzan, Anthony Fenech, Godfrey Grech, Vytautas Kasiulevicius, Ľudevít Kádaši, Vaidutis Kučinskas, Elza Khusnutdinova, Yiannis L Loukas, Milan Macek, Halyna Makukh, Ron Mathijssen, Konstantinos Mitropoulos, Christina Mitropoulou, Giuseppe Novelli, Ioanna Papantoni, Sonja Pavlovic, Giuseppe Saglio, Jadranka Sertić, Maja Stojiljkovic, Andrew P Stubbs, Alessio Squassina, Maria Torres, Marek Turnovec, Ron H van Schaik, Konstantinos Voskarides, Salma M Wakil, Anneke Werk, Maria Del Zompo, Branka Zukic, Theodora Katsila, Ming Ta Michael Lee, Alison Motsinger-Rief, Howard L Mc Leod, Peter J van der Spek, George P Patrinos
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0172595 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0162866.].
Externí odkaz:
https://doaj.org/article/bfb926067d6344b3b90c530f5e7e1bb4
Autor:
Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh, Nazli Başak, Ruwen Böhm, Joseph Borg, Paola Borgiani, Nada Bozina, Henrike Bruckmueller, Beata Burzynska, Angel Carracedo, Ingolf Cascorbi, Constantinos Deltas, Vita Dolzan, Anthony Fenech, Godfrey Grech, Vytautas Kasiulevicius, Ľudevít Kádaši, Vaidutis Kučinskas, Elza Khusnutdinova, Yiannis L Loukas, Milan Macek, Halyna Makukh, Ron Mathijssen, Konstantinos Mitropoulos, Christina Mitropoulou, Giuseppe Novelli, Ioanna Papantoni, Sonja Pavlovic, Giuseppe Saglio, Jadranka Setric, Maja Stojiljkovic, Andrew P Stubbs, Alessio Squassina, Maria Torres, Marek Turnovec, Ron H van Schaik, Konstantinos Voskarides, Salma M Wakil, Anneke Werk, Maria Del Zompo, Branka Zukic, Theodora Katsila, Ming Ta Michael Lee, Alison Motsinger-Rief, Howard L Mc Leod, Peter J van der Spek, George P Patrinos
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162866 (2016)
Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In sev
Externí odkaz:
https://doaj.org/article/65d317caa72545be89067d0f39dc3afe
Autor:
Ivica Mašindová, Andrea Šoltýsová, Lukáš Varga, Petra Mátyás, Andrej Ficek, Miloslava Hučková, Martina Sůrová, Dana Šafka-Brožková, Saima Anwar, Judit Bene, Slavomír Straka, Ingrid Janicsek, Zubair M Ahmed, Pavel Seeman, Béla Melegh, Milan Profant, Iwar Klimeš, Saima Riazuddin, Ľudevít Kádasi, Daniela Gašperíková
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0124232 (2015)
In the present study we aimed: 1) To establish the prevalence and clinical impact of DFNB49 mutations in deaf Roma from 2 Central European countries (Slovakia and Hungary), and 2) to analyze a possible common origin of the c.1331+2T>C mutation among
Externí odkaz:
https://doaj.org/article/2211c17f1c124b1f8927900caae4f350
Autor:
Peter Celec, Denisa Tretinárová, Gabriel Minárik, Andrej Ficek, Tomáš Szemes, Silvia Lakatošová, Eva Schmidtová, Ján Turňa, Ľudevít Kádaši, Daniela Ostatníková
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54751 (2013)
Prepubertal testosterone levels are lower in intellectually gifted boys. The aim of this pilot study was to analyze potential genetic factors related to testosterone metabolism in control and gifted boys. Intellectually gifted (IQ>130; n = 95) and co
Externí odkaz:
https://doaj.org/article/be9d8652a8de47b1aae630eb48239786
Autor:
Priya Moorjani, Nick Patterson, Po-Ru Loh, Mark Lipson, Péter Kisfali, Bela I Melegh, Michael Bonin, Ludevít Kádaši, Olaf Rieß, Bonnie Berger, David Reich, Béla Melegh
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e58633 (2013)
The Roma people, living throughout Europe and West Asia, are a diverse population linked by the Romani language and culture. Previous linguistic and genetic studies have suggested that the Roma migrated into Europe from South Asia about 1,000-1,500 y
Externí odkaz:
https://doaj.org/article/6618524e69dd4ff98986cc7cb4e2700d
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ea4cb3f6840f4e54226b24f20725f9a
https://doi.org/10.1007/s00439-021-02405-w
https://doi.org/10.1007/s00439-021-02405-w
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86be9977e5d21196a302d3e9c99df444
https://pubmed.ncbi.nlm.nih.gov/35852507
https://pubmed.ncbi.nlm.nih.gov/35852507
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc24d3012e8ab9fa735aa377e1b4266
http://link.springer.com/article/10.1038/s41598-020-67215-y
http://link.springer.com/article/10.1038/s41598-020-67215-y
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2113101a95ec3de8f4de1604b47ee1ef
https://doi.org/10.2147/tacg.s186773
https://doi.org/10.2147/tacg.s186773
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612ddede3a519d0809ae0ac0ecfa8cf4
https://doi.org/10.4149/bll_2019_007
https://doi.org/10.4149/bll_2019_007