Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2
Štefan, Sivák, Egon, Kurča, Adriána, Krajčiová, Martina, Hikkelová, Juraj, Šimko, Nadežda, Mišovicová, Ema, Kantorová, Monika, Turčanová-Koprušáková, Tatiana, Burjanivová, Daniel, Čierny, Vladimír, Nosál
Published in Journal of the neurological sciences (15.05.2017)
Published in Journal of the neurological sciences (15.05.2017)
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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 Hyperglycemia in Humans
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Published in Diabetes (New York, N.Y.) (01.08.2009)
Published in Diabetes (New York, N.Y.) (01.08.2009)
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Hnilicova, Petra, Grendar, Marian, Turcanova Koprusakova, Monika, Trancikova Kralova, Alzbeta, Harsanyiova, Jana, Krssak, Martin, Just, Ivica, Misovicova, Nadezda, Hikkelova, Martina, Grossmann, Jan, Spalek, Peter, Meciarova, Iveta, Kurca, Egon, Zilka, Norbert, Zelenak, Kamil, Bogner, Wolfgang, Kolisek, Martin
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Published in Scientific reports (20.08.2024)
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Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report
Capkova, Pavlina, Misovicova, Nadezda, Vrbicka, Dita
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (23.06.2014)
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (23.06.2014)
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Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
Zahorakova, Daniela, Rosipal, Robert, Hadac, Jan, Zumrova, Alena, Bzduch, Vladimir, Misovicova, Nadezda, Baxova, Alice, Zeman, Jiri, Martasek, Pavel
Published in Journal of human genetics (01.04.2007)
Published in Journal of human genetics (01.04.2007)
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Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2
Suliman, Sara G.I., Stanik, Juraj, McCulloch, Laura J., Wilson, Natalie, Edghill, Emma L., Misovicova, Nadezda, Gasperikova, Daniela, Sandrikova, Vilja, Elliott, Katherine S., Barak, Lubomir, Ellard, Sian, Volpi, Emanuela V., Klimes, Iwar, Gloyn, Anna L.
Published in Diabetes (New York, N.Y.) (01.12.2009)
Published in Diabetes (New York, N.Y.) (01.12.2009)
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Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family
Kaplanová, Vilma, Zeman, Jiřı́, Hansı́ková, Hana, Černá, Leona, Houšt'ková, Hana, Mišovicová, Naděžda, Houštěk, Josef
Published in Journal of the neurological sciences (30.08.2004)
Published in Journal of the neurological sciences (30.08.2004)
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Severe Insulin Resistance and Intrauterine Growth Deficiency Associated With Haploinsufficiency for INSR and CHN2: New Insights Into Synergistic Pathways Involved in Growth and Metabolism
SULIMAN, Sara G. I, STANIK, Juraj, ELLARD, Sian, VOLPI, Emanuela V, KLIMES, Iwar, GLOYN, Anna L, MCCULLOCH, Laura J, WILSON, Natalie, EDGHILL, Emma L, MISOVICOVA, Nadezda, GASPERIKOVA, Daniela, SANDRIKOVA, Vilja, ELLIOTT, Katherine S, BARAK, Lubomir
Published in Diabetes (New York, N.Y.) (01.12.2009)
Published in Diabetes (New York, N.Y.) (01.12.2009)
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Journal Article
Identification of a Novel [beta]-Cell Glucokinase (GCK) Promoter Mutation (-71G>C) That Modulates GCK Gene Expression Through Loss of Allele-Speciflc Sp1 Binding Causing Mild Fasting Hyperglycemia in Humans
Gasperíková, Daniela, Tribble, Nicolas D, Staník, Juraj, Hucková, Miroslava, Misovicová, Nadezda, de Bunt, van, Valentínová, Lucia, Barrow, Beryl A, Barák, L'ubomir, Dobránsky, Radoslav, Bereczková, Eva, Michálek, Jozef, Wicks, Kate, Colclough, Kevin, Knight, Julian C, Ellard, Sian, Klimes, Iwar, Gloyn, Anna L
Published in Diabetes (New York, N.Y.) (01.08.2009)
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Published in Diabetes (New York, N.Y.) (01.08.2009)
Journal Article
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2
Sivák, Štefan, Kurča, Egon, Krajčiová, Adriána, Hikkelová, Martina, Šimko, Juraj, Mišovicová, Nadežda, Kantorová, Ema, Turčanová-Koprušáková, Monika, Burjanivová, Tatiana, Čierny, Daniel, Nosál', Vladimír
Published in Journal of the neurological sciences (15.05.2017)
Published in Journal of the neurological sciences (15.05.2017)
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Identification of a novel β-cell glucokinase that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans
Gasperikova, Daniela, Tribble, Nicolas D, Stanik, Juraj, Huckova, Miroslava, Misovicova, Nadezda, van de Bunt, Martijn, Valentinova, Lucia, Barrow, Beryl A, Barak, L'ubomir, Dobransky, Radoslav, Bereczkova, Eva, Michalek, Jozef, Wicks, Kate, Colclough, Kevin, Knight, Julian C, Ellard, Sian, Klimes, Iwar, Gloyn, Anna L
Published in Diabetes (New York, N.Y.) (01.08.2009)
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Published in Diabetes (New York, N.Y.) (01.08.2009)
Journal Article