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Items: 1 to 20 of 81

1.

Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity.

Stanik J, Kratzsch J, Landgraf K, Scheuermann K, Spielau U, Gausche R, Gasperikova D, Kiess W, Körner A.

PLoS One. 2017 May 23;12(5):e0178107. doi: 10.1371/journal.pone.0178107. eCollection 2017.

2.

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.

3.

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Stanik J, Skopkova M, Brennerova K, Danis D, Rosolankova M, Salingova A, Bzduch V, Klimes I, Gasperikova D.

Diabetes Res Clin Pract. 2017 Apr;126:144-150. doi: 10.1016/j.diabres.2017.02.014. Epub 2017 Feb 16.

PMID:
28242437
4.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM.

Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23.

PMID:
28055140
5.

[Actual trends in diagnostics and treatment of congenital hyperinsulinism].

Staník J, Škopková M, Rosoľanková M, Klimeš I, Gašperíková D.

Vnitr Lek. 2016 Fall;62(11 Suppl 4):S103-112. Review. Czech.

PMID:
27921434
6.

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, Rašková K, Gašperiková D.

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

7.

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
8.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Skopkova M, Ciljakova M, Havlicekova Z, Vojtkova J, Valentinova L, Danis D, Murgas D, Szepeova R, Stanik J, Banovcin P, Klimes I, Gasperikova D.

Eur J Med Genet. 2016 Sep;59(9):429-35. doi: 10.1016/j.ejmg.2016.08.005. Epub 2016 Aug 12.

PMID:
27523286
9.

Muscle Carnosine Is Associated with Cardiometabolic Risk Factors in Humans.

de Courten B, Kurdiova T, de Courten MP, Belan V, Everaert I, Vician M, Teede H, Gasperikova D, Aldini G, Derave W, Ukropec J, Ukropcova B.

PLoS One. 2015 Oct 6;10(10):e0138707. doi: 10.1371/journal.pone.0138707. eCollection 2015.

10.

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
11.

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
12.

Improved adipose tissue metabolism after 5-year growth hormone replacement therapy in growth hormone deficient adults: The role of zinc-α2-glycoprotein.

Balaž M, Ukropcova B, Kurdiova T, Vlcek M, Surova M, Krumpolec P, Vanuga P, Gašperíková D, Klimeš I, Payer J, Wolfrum C, Ukropec J.

Adipocyte. 2014 Dec 17;4(2):113-22. doi: 10.4161/21623945.2014.973772. eCollection 2015 Apr-Jun.

13.

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.

14.

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.

15.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.

Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S.

Hum Genet. 2015 Apr;134(4):423-37. doi: 10.1007/s00439-015-1532-y. Epub 2015 Feb 10.

16.

Adipokine zinc-α2-glycoprotein regulated by growth hormone and linked to insulin sensitivity.

Balaz M, Ukropcova B, Kurdiova T, Gajdosechova L, Vlcek M, Janakova Z, Fedeles J, Pura M, Gasperikova D, Smith SR, Tkacova R, Klimes I, Payer J, Wolfrum C, Ukropec J.

Obesity (Silver Spring). 2015 Feb;23(2):322-8. doi: 10.1002/oby.20856. Epub 2014 Aug 7.

17.

Subcutaneous adipose tissue zinc-α2-glycoprotein is associated with adipose tissue and whole-body insulin sensitivity.

Balaz M, Vician M, Janakova Z, Kurdiova T, Surova M, Imrich R, Majercikova Z, Penesova A, Vlcek M, Kiss A, Belan V, Klimes I, Olejnik J, Gasperikova D, Wolfrum C, Ukropcova B, Ukropec J.

Obesity (Silver Spring). 2014 Aug;22(8):1821-9. doi: 10.1002/oby.20764. Epub 2014 Apr 22.

18.

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

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

Acta Otolaryngol. 2014 Jun;134(6):571-8. doi: 10.3109/00016489.2014.894253. Epub 2014 Apr 11.

PMID:
24720341
19.

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
20.

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

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