Skopkova M - Search Results

1

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.

Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, Pietrzykova M, Karhanek M, Noskova L, Tesarova M, Hansikova H, Gasperikova D. Skopkova M, et al. Orphanet J Rare Dis. 2023 Apr 24;18(1):92. doi: 10.1186/s13023-023-02689-3. Orphanet J Rare Dis. 2023. PMID: 37095554 Free PMC article.

2

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. Skopková M, et al. Obesity (Silver Spring). 2007 Oct;15(10):2396-406. doi: 10.1038/oby.2007.285. Obesity (Silver Spring). 2007. PMID: 17925465 Free article.

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. Stanik J, et al. Among authors: skopkova m. Diabetologia. 2014 Mar;57(3):480-4. doi: 10.1007/s00125-013-3119-2. Epub 2013 Dec 10. Diabetologia. 2014. PMID: 24323243

4

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. Stanikova D, et al. Among authors: skopkova m. Physiol Res. 2015;64(6):883-90. doi: 10.33549/physiolres.932968. Epub 2015 Jun 5. Physiol Res. 2015. PMID: 26047380 Free article.

5

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. Skopkova M, et al. Eur J Med Genet. 2016 Sep;59(9):429-35. doi: 10.1016/j.ejmg.2016.08.005. Epub 2016 Aug 12. Eur J Med Genet. 2016. PMID: 27523286

6

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. Skopkova M, et al. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.

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. Stanik J, et al. Among authors: skopkova m. Diabetes Res Clin Pract. 2017 Apr;126:144-150. doi: 10.1016/j.diabres.2017.02.014. Epub 2017 Feb 16. Diabetes Res Clin Pract. 2017. PMID: 28242437

8

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. Stanikova D, et al. Among authors: skopkova m. PLoS One. 2017 May 4;12(5):e0177222. doi: 10.1371/journal.pone.0177222. eCollection 2017. PLoS One. 2017. PMID: 28472148 Free PMC article.

9

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. Stanik J, et al. Among authors: skopkova m. Diabet Med. 2018 Mar;35(3):386-391. doi: 10.1111/dme.13575. Diabet Med. 2018. PMID: 29278452

10

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. Stanik J, et al. Among authors: skopkova m. Physiol Res. 2018 May 4;67(2):331-337. doi: 10.33549/physiolres.933689. Epub 2018 Jan 5. Physiol Res. 2018. PMID: 29303605 Free article.

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