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Items: 1 to 20 of 183

1.

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.

2.

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
3.

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.

4.

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
5.

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.

6.

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
7.

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.

8.

[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
9.

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.

10.

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
11.

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
12.

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
13.

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
14.

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.

15.

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.

16.

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.

17.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss.

Nayak G, Varga L, Trincot C, Shahzad M, Friedman PL, Klimes I, Greinwald JH Jr, Riazuddin SA, Masindova I, Profant M, Khan SN, Friedman TB, Ahmed ZM, Gasperikova D, Riazuddin S, Riazuddin S.

Hum Genet. 2015 Apr;134(4):423-37. doi: 10.1007/s00439-015-1532-y. Epub 2015 Feb 10.

18.

Adipokine zinc-α2-glycoprotein regulated by growth hormone and linked to insulin sensitivity.

Balaz M, Ukropcova B, Kurdiova T, Gajdosechova L, Vlcek M, Janakova Z, Fedeles J, Pura M, Gasperikova D, Smith SR, Tkacova R, Klimes I, Payer J, Wolfrum C, Ukropec J.

Obesity (Silver Spring). 2015 Feb;23(2):322-8. doi: 10.1002/oby.20856. Epub 2014 Aug 7.

19.

Subcutaneous adipose tissue zinc-α2-glycoprotein is associated with adipose tissue and whole-body insulin sensitivity.

Balaz M, Vician M, Janakova Z, Kurdiova T, Surova M, Imrich R, Majercikova Z, Penesova A, Vlcek M, Kiss A, Belan V, Klimes I, Olejnik J, Gasperikova D, Wolfrum C, Ukropcova B, Ukropec J.

Obesity (Silver Spring). 2014 Aug;22(8):1821-9. doi: 10.1002/oby.20764. Epub 2014 Apr 22.

20.

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

Varga L, Kabátová Z, Mašindová I, Nechojdomová D, Gašperíková D, Klimeš I, Profant M.

Acta Otolaryngol. 2014 Jun;134(6):571-8. doi: 10.3109/00016489.2014.894253. Epub 2014 Apr 11.

PMID:
24720341

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