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Items: 13

1.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

Stanik J, Skopkova M, Stanikova D, Brennerova K, Barak L, Ticha L, Hornova J, Klimes I, Gasperikova D.

Physiol Res. 2018 May 4;67(2):331-337. Epub 2018 Jan 5.

2.

Increased estrogen level can be associated with depression in males.

Stanikova D, Luck T, Bae YJ, Thiery J, Ceglarek U, Engel C, Enzenbach C, Wirkner K, Stanik J, Kratzsch J, Riedel-Heller SG.

Psychoneuroendocrinology. 2018 Jan;87:196-203. doi: 10.1016/j.psyneuen.2017.10.025. Epub 2017 Nov 2.

PMID:
29107881
3.

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.

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.

5.

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.

6.

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
7.

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
8.

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.

9.

Lack of association between peripheral activity of thyroid hormones and elevated TSH levels in childhood obesity.

Lobotková D, Staníková D, Staník J, Cervenová O, Bzdúch V, Tichá L.

J Clin Res Pediatr Endocrinol. 2014;6(2):100-4. doi: 10.4274/Jcrpe.1251.

10.

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
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.

[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
13.

[Clinical and genetic aspects of monogenic obesity].

Lesayová D, Staník J, Gasperíková D, Klimes I.

Vnitr Lek. 2010 Oct;56(10):1043-9. Review. Slovak.

PMID:
21105449

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