Novel insights into genetics and clinics of the HNF1A-MODY
Valkovicova, Terezia, Skopkova, Martina, Stanik, Juraj, Gasperikova, Daniela
Published in Endocrine regulations (Bratislava) (01.04.2019)
Published in Endocrine regulations (Bratislava) (01.04.2019)
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Effects of obesity, diabetes and exercise on Fndc5 gene expression and irisin release in human skeletal muscle and adipose tissue: in vivo and in vitro studies
Kurdiova, Timea, Balaz, Miroslav, Vician, Marek, Maderova, Denisa, Vlcek, Miroslav, Valkovic, Ladislav, Srbecky, Miroslav, Imrich, Richard, Kyselovicova, Olga, Belan, Vitazoslav, Jelok, Ivan, Wolfrum, Christian, Klimes, Iwar, Krssak, Martin, Zemkova, Erika, Gasperikova, Daniela, Ukropec, Jozef, Ukropcova, Barbara
Published in The Journal of physiology (01.03.2014)
Published in The Journal of physiology (01.03.2014)
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Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss
Pavlenkova, Zuzana, Varga, Lukas, Borecka, Silvia, Karhanek, Miloslav, Huckova, Miloslava, Skopkova, Martina, Profant, Milan, Gasperikova, Daniela
Published in Scientific reports (18.11.2021)
Published in Scientific reports (18.11.2021)
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Mitochondria and mitochondrial disorders: an overview update
Rambani, Vibhuti, Hromnikova, Dominika, Gasperikova, Daniela, Skopkova, Martina
Published in Endocrine regulations (Bratislava) (01.07.2022)
Published in Endocrine regulations (Bratislava) (01.07.2022)
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Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors
Podolakova, Kristina, Barak, Lubomir, Jancova, Emilia, Tarnokova, Simona, Podracka, Ludmila, Dobiasova, Zuzana, Skopkova, Martina, Gasperikova, Daniela, Stanik, Juraj
Published in Scientific reports (26.04.2023)
Published in Scientific reports (26.04.2023)
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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela
Published in BMC pediatrics (16.12.2021)
Published in BMC pediatrics (16.12.2021)
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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Published in Orphanet journal of rare diseases (24.04.2023)
Published in Orphanet journal of rare diseases (24.04.2023)
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Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool
Kušíková, Katarína, Šoltýsová, Andrea, Ficek, Andrej, Feichtinger, René G, Mayr, Johannes A, Škopková, Martina, Gašperíková, Daniela, Kolníková, Miriam, Ornig, Karoline, Kalev, Ognian, Weis, Serge, Weis, Denisa
Published in Genes (03.12.2023)
Published in Genes (03.12.2023)
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MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin
Mašindová, Ivica, Šoltýsová, Andrea, Varga, Lukáš, Mátyás, Petra, Ficek, Andrej, Hučková, Miloslava, Sůrová, Martina, Šafka-Brožková, Dana, Anwar, Saima, Bene, Judit, Straka, Slavomír, Janicsek, Ingrid, Ahmed, Zubair M, Seeman, Pavel, Melegh, Béla, Profant, Milan, Klimeš, Iwar, Riazuddin, Saima, Kádasi, Ľudevít, Gašperíková, Daniela
Published in PloS one (17.04.2015)
Published in PloS one (17.04.2015)
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Clinical implications of the glucokinase impaired function - GCK MODY today
Hulín, J, Škopková, M, Valkovičová, T, Mikulajová, S, Rosoľanková, M, Papcun, P, Gašperíková, D, Staník, J
Published in Physiological research (2020)
Published in Physiological research (2020)
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Serum Afamin a Novel Marker of Increased Hepatic Lipid Content
Kurdiova, Timea, Balaz, Miroslav, Kovanicova, Zuzana, Zemkova, Erika, Kuzma, Martin, Belan, Vitazoslav, Payer, Juraj, Gasperikova, Daniela, Dieplinger, Hans, Ukropcova, Barbara, Ukropec, Jozef
Published in Frontiers in endocrinology (Lausanne) (16.09.2021)
Published in Frontiers in endocrinology (Lausanne) (16.09.2021)
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Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile
THANABALASINGHAM, Gaya, HUFFMAN, Jennifer E, HASSANALI, Neelam, PUCIC, Maja, BENNETT, Amanda J, ESSAFI, Abdelkader, POLASEK, Ozren, MUGHAL, Saima A, REDZIC, Irma, PRIMORAC, Dragan, ZGAGA, Lina, KOLCIC, Ivana, KATTLA, Jayesh J, HANSEN, Torben, GASPERIKOVA, Daniela, TJORA, Erling, STRACHAN, Mark W. J, NIELSEN, Trine, STANIK, Juraj, KLIMES, Iwar, PEDERSEN, Oluf B, NJØLSTAD, Pål R, WILD, Sarah H, NOVOKMET, Mislav, GYLLENSTEN, Ulf, GORNIK, Olga, WILSON, James F, HASTIE, Nicholas D, CAMPBELL, Harry, MCCARTHY, Mark I, RUDD, Pauline M, OWEN, Katharine R, LAUC, Gordan, WRIGHT, Alan F, RUDAN, Igor, GLOYN, Anna L, HAYWARD, Caroline, ADAMCZYK, Barbara, REYNOLDS, Rebecca M, MUZINIC, Ana
Published in Diabetes (New York, N.Y.) (01.04.2013)
Published in Diabetes (New York, N.Y.) (01.04.2013)
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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Varga, Lukas, Danis, Daniel, Skopkova, Martina, Masindova, Ivica, Slobodova, Zuzana, Demesova, Lucia, Profant, Milan, Gasperikova, Daniela
Published in BMC medical genetics (17.05.2019)
Published in BMC medical genetics (17.05.2019)
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Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia
Valentínová, Lucia, Beer, Nicola L, Staník, Juraj, Tribble, Nicholas D, van de Bunt, Martijn, Hučková, Miroslava, Barrett, Amy, Klimeš, Iwar, Gašperíková, Daniela, Gloyn, Anna L
Published in PloS one (06.04.2012)
Published in PloS one (06.04.2012)
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Muscle Carnosine Is Associated with Cardiometabolic Risk Factors in Humans
de Courten, Barbora, Kurdiova, Timea, de Courten, Maximilian P J, Belan, Vitazoslav, Everaert, Inge, Vician, Marek, Teede, Helena, Gasperikova, Daniela, Aldini, Giancarlo, Derave, Wim, Ukropec, Jozef, Ukropcova, Barbara
Published in PloS one (06.10.2015)
Published in PloS one (06.10.2015)
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Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity
Stanik, Juraj, Kratzsch, Jürgen, Landgraf, Kathrin, Scheuermann, Kathrin, Spielau, Ulrike, Gausche, Ruth, Gasperikova, Daniela, Kiess, Wieland, Körner, Antje
Published in PloS one (23.05.2017)
Published in PloS one (23.05.2017)
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Variants influencing age at diagnosis of HNF1A-MODY
Ludwig-Słomczyńska, Agnieszka H, Seweryn, Michał T, Radkowski, Piotr, Kapusta, Przemysław, Machlowska, Julita, Pruhova, Stepanka, Gasperikova, Daniela, Bellanne-Chantelot, Christine, Hattersley, Andrew, Kandasamy, Balamurugan, Letourneau-Freiberg, Lisa, Philipson, Louis, Doria, Alessandro, Wołkow, Paweł P, Małecki, Maciej T, Klupa, Tomasz
Published in Molecular medicine (Cambridge, Mass.) (14.09.2022)
Published in Molecular medicine (Cambridge, Mass.) (14.09.2022)
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Increased thyroid volume, prevalence of thyroid antibodies and impaired fasting glucose in young adults from organochlorine cocktail polluted area: Outcome of transgenerational transmission?
Langer, Pavel, Kočan, Anton, Tajtáková, Mária, Koška, Juraj, Rádiková, Žofia, Kšinantová, Lucia, Imrich, Richard, Hučková, Miloslava, Drobná, Beáta, Gašperíková, Daniela, Šeböková, Elena, Klimeš, Iwar
Published in Chemosphere (Oxford) (01.10.2008)
Published in Chemosphere (Oxford) (01.10.2008)
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Adipokine Protein Expression Pattern in Growth Hormone Deficiency Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Derangements
Ukropec, Jozef, Penesová, Adela, Škopková, Martina, Pura, Mikuláš, Vlček, Miroslav, Rádiková, Žofia, Imrich, Richard, Ukropcová, Barbara, Tajtáková, Mária, Koška, Juraj, Zórad, Štefan, Belan, Vítazoslav, Vaňuga, Peter, Payer, Juraj, Eckel, Juergen, Klimeš, Iwar, Gašperíková, Daniela
Published in The journal of clinical endocrinology and metabolism (01.06.2008)
Published in The journal of clinical endocrinology and metabolism (01.06.2008)
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