Search Results - "Stanikova, D"

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome by Stanik, J, Skopkova, M, Stanikova, D, Brennerova, K, Barak, L, Ticha, L, Hornova, J, Klimes, I, Gasperikova, D

“…Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome…”
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The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey by Gabčová, D, Vohnout, B, Staníková, D, Hučková, M, Kadurová, M, Debreová, M, Kozárová, M, Fábryová, Ľ, Staník, J, Klimeš, I, Rašlová, K, Gašperiková, D

“…Familial hypercholesterolemia (FH) is most frequently caused by LDLR or APOB mutations. Therefore, the aim of our study was to examine the genetic background…”
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Molecular analysis of genes involved in lipoprotein lipase deficiency in Slovak patients with familial chylomicronemia by Gabcova, D, Stanikova, D, Huckova, M, Bzduch, V, Stanik, J, Klimes, I, Raslova, K, Gasperikova, D

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DNA diagnostics of familial hypercholesterolemia: Slovak experience by Balaziova, D, Vohnout, B, Huckova, M, Stanikova, D, Stanik, J, Klimes, I, Raslova, K, Gasperikova, D

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Melanocortin-4 receptor gene mutations in obese Slovak children by Stanikova, D, Surova, M, Ticha, L, Petrasova, M, Virgova, D, Huckova, M, Skopkova, M, Lobotkova, D, Valentinova, L, Mokan, M, Stanik, J, Klimes, I, Gasperikova, D

“…The most common etiology of non-syndromic monogenic obesity are mutations in gene for the Melanocortin-4 receptor (MC485) with variable prevalence in different…”
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Molecular-genetic aspects of familial hypercholesterolemia by Gabcova-Balaziova, D, Stanikova, D, Vohnout, B, Huckova, M, Stanik, J, Klimes, I, Raslova, K, Gasperikova, D

“…Familial hypercholesterolemia (FH) is the world's most abundant and the most common heritable disorder of lipid metabolism. The prevalence of the disease in…”
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Age of obesity onset in MC4R mutation carriers by Stanikova, D, Surova, M, Buzga, M, Skopkova, M, Ticha, L, Petrasova, M, Huckova, M, Gabcova-Balaziova, D, Valentova, L, Mokan, M, Zavacka, I, Stanik, J, Klimes, I, Gasperikova, D

“…The mutations in gene for the melanocortin-4 receptor (MC4R) are the most common etiology factors of monogenic obesity development. Recently, it has been shown…”
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Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report by Stanik, J, Kusekova, M, Huckova, M, Valentinova, L, Masindova, I, Stanikova, D, Ferenczova, J, Gasperikova, D, Klimes, I

“…Glucokinase (GCK) diabetes is a mild form of the monogenic diabetes characterized by the fasting hyperglycemia without signs of metabolic syndrome and very low…”
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Immunologic phenotype of a child with the MEHMO syndrome by Trochanová, I, Staníková, D, Škopková, M, Haštová, K, Gašperíková, D, Staník, J, Čižnár, P

“…MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect…”
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Genetics of monogenic forms of diabetes by Staník, J, Hucková, M, Staníková, D, Masindová, I, Valentínová, L, Gasperíková, D, Klimes, I

“…Monogenic diabetes mellitus is a type of diabetes, where genetics without any other factors is strong enough to cause the disease. According to the clinical…”
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