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Items: 1 to 20 of 87

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.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group.

Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Erratum in: Lancet Diabetes Endocrinol. 2018 Sep;6(9):e17.

3.

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
4.

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
5.

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.

6.

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
7.

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.

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.

PLoS One. 2017 May 4;12(5):e0177222. doi: 10.1371/journal.pone.0177222. eCollection 2017.

9.

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
10.

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.

11.

[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
12.

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.

13.

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
14.

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
15.

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.

16.

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
17.

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
18.

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.

19.

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.

20.

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.

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