Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 18

1.

Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.

Kolnikova M, Jungova P, Skopkova M, Foltan T, Gasperikova D, Mattosova S, Chandoga J.

J Mol Neurosci. 2019 Jan 11. doi: 10.1007/s12031-019-1259-7. [Epub ahead of print]

PMID:
30632081
2.

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

Danis D, Brennerova K, Skopkova M, Kurdiova T, Ukropec J, Stanik J, Kolnikova M, Gasperikova D.

Endocr Regul. 2018 Apr 1;52(2):110-118. doi: 10.2478/enr-2018-0013.

PMID:
29715184
3.

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Kolnikova M, Skopkova M, Ilencikova D, Foltan T, Payerova J, Danis D, Klimes I, Stanik J, Gasperikova D.

Seizure. 2018 Mar;56:31-33. doi: 10.1016/j.seizure.2018.01.020. Epub 2018 Feb 3. No abstract available.

PMID:
29427836
4.

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.

5.

Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control.

Stanik J, Dankovcikova A, Barak L, Skopkova M, Palko M, Divinec J, Klimes I, Gasperikova D.

Diabet Med. 2018 Mar;35(3):386-391. doi: 10.1111/dme.13575.

PMID:
29278452
6.

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.

7.

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
8.

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.

9.

[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
10.

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
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.

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.

13.

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
14.

Adipokine protein expression pattern in growth hormone deficiency predisposes to the increased fat cell size and the whole body metabolic derangements.

Ukropec J, Penesová A, Skopková M, Pura M, Vlcek M, Rádiková Z, Imrich R, Ukropcová B, Tajtáková M, Koska J, Zórad S, Belan V, Vanuga P, Payer J, Eckel J, Klimes I, Gasperíková D.

J Clin Endocrinol Metab. 2008 Jun;93(6):2255-62. doi: 10.1210/jc.2007-2188. Epub 2008 Mar 11.

PMID:
18334583
15.

Protein array reveals differentially expressed proteins in subcutaneous adipose tissue in obesity.

Skopková M, Penesová A, Sell H, Rádiková Z, Vlcek M, Imrich R, Koska J, Ukropec J, Eckel J, Klimes I, Gasperíková D.

Obesity (Silver Spring). 2007 Oct;15(10):2396-406.

16.

Survey of Enterobacteriaceae producing extended-spectrum beta-lactamases in a Slovak hospital: dominance of SHV-2a and characterization of TEM-132.

Zarnayová M, Siebor E, Péchinot A, Duez JM, Bujdáková H, Labia R, Neuwirth C.

Antimicrob Agents Chemother. 2005 Jul;49(7):3066-9.

17.

Outer membrane protein profiles of clonally related Klebsiella pneumoniae isolates that differ in cefoxitin resistance.

Skopková-Zarnayová M, Siebor E, Rovná D, Bujdáková H, Neuwirth C.

FEMS Microbiol Lett. 2005 Feb 1;243(1):197-203.

18.

First isolation of CTX-M15-producing Escherichia coli from two French patients.

Neuwirth C, Siebor E, Pruneaux M, Zarnayova M, Simonin C, Kisterman JP, Labia R.

J Antimicrob Chemother. 2003 Feb;51(2):471-3. No abstract available.

PMID:
12562730

Supplemental Content

Loading ...
Support Center