Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report von Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela

Volltext

Clinical implications of the glucokinase impaired function – GCK MODY today von Hulín, J, Škopková, M, Valkovičová, T, Mikulajová, S, Rosoľanková, M, Papcun, P, Gašperíková, D, Staník, J

Volltext

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin von 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

Volltext

Increased thyroid volume, prevalence of thyroid antibodies and impaired fasting glucose in young adults from organochlorine cocktail polluted area: Outcome of transgenerational tra... von Langer, Pavel, Kočan, Anton, Tajtáková, Mária, Koška, Juraj, Rádiková, Žofia, Kšinantová, Lucia, Imrich, Richard, Hučková, Miloslava, Drobná, Beáta, Gašperíková, Daniela, Šeböková, Elena, Klimeš, Iwar

Volltext

Immunologic Phenotype of a Child With the MEHMO Syndrome von TROCHANOVÁ, I, STANÍKOVÁ, D, ŠKOPKOVÁ, M, HAŠTOVÁ, K, GAŠPERÍKOVÁ, D, STANÍK, J, ČIŽNÁR, P

Volltext

Adipokine Protein Expression Pattern in Growth Hormone Deficiency Predisposes to the Increased Fat Cell Size and the Whole Body Metabolic Derangements von 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

Volltext

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia von 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

Volltext

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 von 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

Volltext

Identification of a Novel β-Cell Glucokinase (GCK) Promoter Mutation (−71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fasting Hy... von GASPERIKOVA, Daniela, TRIBBLE, Nicolas D, BERECZKOVA, Eva, MICHILEK, Jozef, WICKS, Kate, COLCLOUGH, Kevin, KNIGHT, Julian C, ELLARD, Sian, KLIMES, Iwar, GLOYN, AnnaL, STANIK, Juraj, HUCKOVA, Miroslava, MISOVICOVA, Nadezda, VAN DE BUNT, Martin, VALENTINOVA, Lucia, BARROW, Beryl A, BARAK, L'ubomir, DOBRANSKY, Radoslav

Volltext

Novel insights into genetics and clinics of the HNF1A-MODY von Valkovicova, Terezia, Skopkova, Martina, Stanik, Juraj, Gasperikova, Daniela

Volltext

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes von Staník, Juraj, Lethby, Mark, Flanagan, Sarah E, Gašperíková, Daniela, Milošovičová, Beata, Lever, Margaret, Bullman, Hilary, Zubcevic, Lejla, Hattersley, Andrew T, Ellard, Sian, Ashcroft, Frances M, Klimeš, Iwar

Volltext

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 von 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

Volltext

Multiple adverse thyroid and metabolic health signs in the population from the area heavily polluted by organochlorine cocktail (PCB, DDE, HCB, dioxin) von Langer, Pavel, Kocan, Anton, Tajtáková, Mária, Susienková, Katarína, Rádiková, Zofia, Koska, Juraj, Ksinantová, Lucia, Imrich, Richard, Hucková, Miloslava, Drobná, Beáta, Gasperíková, Daniela, Trnovec, Tomás, Klimes, Iwar

Volltext

Comprehensive molecular-genetic analysis of mid-frequency sensorineural hearing loss von Pavlenkova, Zuzana, Varga, Lukas, Borecka, Silvia, Karhanek, Miloslav, Huckova, Miloslava, Skopkova, Martina, Profant, Milan, Gasperikova, Daniela

Volltext

Mitochondria and mitochondrial disorders: an overview update von Rambani, Vibhuti, Hromnikova, Dominika, Gasperikova, Daniela, Skopkova, Martina

Volltext

Complete remission in children and adolescents with type 1 diabetes mellitus—prevalence and factors von Podolakova, Kristina, Barak, Lubomir, Jancova, Emilia, Tarnokova, Simona, Podracka, Ludmila, Dobiasova, Zuzana, Skopkova, Martina, Gasperikova, Daniela, Stanik, Juraj

Volltext

Medium-chain fatty acids ameliorate insulin resistance caused by high-fat diets in rats von Wein, Silvia, Wolffram, Siegfried, Schrezenmeir, Jürgen, Gašperiková, Daniela, Klimeš, Iwar, Šeböková, Elena

Volltext

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability von Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela

Volltext

Serum Afamin a Novel Marker of Increased Hepatic Lipid Content von Kurdiova, Timea, Balaz, Miroslav, Kovanicova, Zuzana, Zemkova, Erika, Kuzma, Martin, Belan, Vitazoslav, Payer, Juraj, Gasperikova, Daniela, Dieplinger, Hans, Ukropcova, Barbara, Ukropec, Jozef

Volltext

Mutations in HNF1A Result in Marked Alterations of Plasma Glycan Profile von 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

Volltext