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Items: 1 to 20 of 37

1.

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

Stanikova D, Buzga M, Krumpolec P, Skopkova M, Surova M, Ukropcova B, Ticha L, Petrasova M, Gabcova D, Huckova M, Piskorova L, Bozensky J, Mokan M, Ukropec J, Zavacka I, Klimes I, Stanik J, Gasperikova D.

PLoS One. 2017 May 4;12(5):e0177222. doi: 10.1371/journal.pone.0177222. eCollection 2017.

2.

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Gabčová D, Vohnout B, Staníková D, Hučková M, Kadurová M, Debreová M, Kozárová M, Fábryová Ľ, Staník J, Klimeš I, Rašlová K, Gašperiková D.

Physiol Res. 2017 Mar 31;66(1):75-84. Epub 2016 Nov 8.

3.

Genetic testing of familial hypercholesterolemia in a real clinical setting.

Vohnout B, Gabcova D, Huckova M, Klimes I, Gasperikova D, Raslova K.

Wien Klin Wochenschr. 2016 Dec;128(23-24):916-921. Epub 2016 Aug 19.

PMID:
27542166
4.

Molecular-genetic aspects of familial hypercholesterolemia.

Gabcova-Balaziova D, Stanikova D, Vohnout B, Huckova M, Stanik J, Klimes I, Raslova K, Gasperikova D.

Endocr Regul. 2015 Jul;49(3):164-81. Review.

PMID:
26238499
5.

Age of obesity onset in MC4R mutation carriers.

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.

Endocr Regul. 2015 Jul;49(3):137-40.

PMID:
26238496
6.

Melanocortin-4 receptor gene mutations in obese Slovak children.

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.

Physiol Res. 2015;64(6):883-90. Epub 2015 Jun 5.

7.

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

Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D.

PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.

8.

Obesogenic and diabetogenic impact of high organochlorine levels (HCB, p,p'-DDE, PCBs) on inhabitants in the highly polluted Eastern Slovakia.

Langer P, Ukropec J, Kocan A, Drobna B, Radikova Z, Huckova M, Imrich R, Gasperikova D, Klimes I, Trnovec T.

Endocr Regul. 2014 Jan;48(1):17-24.

PMID:
24524372
9.

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

Stanik J, Dusatkova P, Cinek O, Valentinova L, Huckova M, Skopkova M, Dusatkova L, Stanikova D, Pura M, Klimes I, Lebl J, Gasperikova D, Pruhova S.

Diabetologia. 2014 Mar;57(3):480-4. doi: 10.1007/s00125-013-3119-2. Epub 2013 Dec 10.

PMID:
24323243
10.

Prevalence of DFNB1 mutations among cochlear implant users in Slovakia and its clinical implications.

Varga L, Mašindová I, Hučková M, Kabátová Z, Gašperíková D, Klimeš I, Profant M.

Eur Arch Otorhinolaryngol. 2014 Jun;271(6):1401-7. doi: 10.1007/s00405-013-2559-0. Epub 2013 May 23.

PMID:
23700267
11.

Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.

Stanik J, Kusekova M, Huckova M, Valentinova L, Masindova I, Stanikova D, Ferenczova J, Gasperikova D, Klimes I.

Endocr Regul. 2012 Apr;46(2):99-105.

PMID:
22540858
12.

Blood testosterone in middle aged males heavily exposed to endocrine disruptors is decreasing more with HCB and p,p'-DDE related to BMI and lipids, but not with Σ15PCBs.

Langer P, Kocan A, Drobna B, Susienkova K, Radikova Z, Huckova M, Imrich R, Klimes I.

Endocr Regul. 2012 Apr;46(2):51-9.

PMID:
22540852
13.

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

Valentínová L, Beer NL, Staník J, Tribble ND, van de Bunt M, Hučková M, Barrett A, Klimeš I, Gašperíková D, Gloyn AL.

PLoS One. 2012;7(4):e34541. doi: 10.1371/journal.pone.0034541. Epub 2012 Apr 6.

14.

[Genetics of monogenic forms of diabetes].

Staník J, Hucková M, Staníková D, Masindová I, Valentínová L, Gasperíková D, Klimes I.

Vnitr Lek. 2011 Nov;57(11):937-45. Review. Slovak.

PMID:
22165700
15.

Alpha-fetoprotein, carcinoembryonic antigen and beta2-microglobulin in adult population highly exposed to organochlorinated pollutants (PCB, DDE and HCB).

Langer P, Kocan A, Drobna B, Huckova M, Radikova Z, Susienkova K, Imrich R, Ukropec J.

Endocr Regul. 2011 Jul;45(3):149-55.

PMID:
21793627
16.

Polychlorinated biphenyls and testosterone: age and congener related correlation approach in heavily exposed males.

Langer P, Kocan A, Drobna B, Susienkova K, Radikova Z, Huckova M, Imrich R, Ksinantova L, Klimes I.

Endocr Regul. 2010 Jul;44(3):109-14.

PMID:
20799853
17.

High prevalence of prediabetes and diabetes in a population exposed to high levels of an organochlorine cocktail.

Ukropec J, Radikova Z, Huckova M, Koska J, Kocan A, Sebokova E, Drobna B, Trnovec T, Susienkova K, Labudova V, Gasperikova D, Langer P, Klimes I.

Diabetologia. 2010 May;53(5):899-906. doi: 10.1007/s00125-010-1683-2. Epub 2010 Feb 25.

PMID:
20182860
18.

Identification of a novel beta-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.

Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL.

Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1.

19.

Multiple adverse thyroid and metabolic health signs in the population from the area heavily polluted by organochlorine cocktail (PCB, DDE, HCB, dioxin).

Langer P, Kocan A, Tajtáková M, Susienková K, Rádiková Z, Koska J, Ksinantová L, Imrich R, Hucková M, Drobná B, Gasperíková D, Trnovec T, Klimes I.

Thyroid Res. 2009 Mar 31;2(1):3. doi: 10.1186/1756-6614-2-3.

20.

Increased thyroid volume, prevalence of thyroid antibodies and impaired fasting glucose in young adults from organochlorine cocktail polluted area: outcome of transgenerational transmission?

Langer P, Kocan A, Tajtáková M, Koska J, Rádiková Z, Ksinantová L, Imrich R, Hucková M, Drobná B, Gasperíková D, Seböková E, Klimes I.

Chemosphere. 2008 Oct;73(7):1145-50. doi: 10.1016/j.chemosphere.2008.06.067. Epub 2008 Sep 14.

PMID:
18790515

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