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Items: 10

1.

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
2.

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.

3.

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
4.

A small multidrug resistance-like transporter involved in the arabinosylation of arabinogalactan and lipoarabinomannan in mycobacteria.

Larrouy-Maumus G, Škovierová H, Dhouib R, Angala SK, Zuberogoitia S, Pham H, Villela AD, Mikušová K, Noguera A, Gilleron M, Valentínová L, Korduláková J, Brennan PJ, Puzo G, Nigou J, Jackson M.

J Biol Chem. 2012 Nov 16;287(47):39933-41. doi: 10.1074/jbc.M112.400986. Epub 2012 Oct 4.

5.

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

Masindova I, Varga L, Stanik J, Valentinova L, Profant M, Klimes I, Gasperikova D.

Endocr Regul. 2012 Jul;46(3):167-86. Review.

PMID:
22808909
6.

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Beer NL, Osbak KK, van de Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, Rundle JK, Raimondo A, Grimsby J, Ellard S, Gloyn AL.

Diabetes Care. 2012 Jul;35(7):1482-4. doi: 10.2337/dc11-2420. Epub 2012 May 18.

7.

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
8.

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.

9.

[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
10.

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.

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