Skakic A - Search Results

1

Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

Sarajlija A, Djordjevic M, Kecman B, Skakic A, Pavlovic S, Pasic S, Stojiljkovic M. Sarajlija A, et al. Among authors: skakic a. Eur J Med Genet. 2020 Mar;63(3):103767. doi: 10.1016/j.ejmg.2019.103767. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536830

2

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.

Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. Skakic A, et al. Gene. 2019 Jun 30;703:17-25. doi: 10.1016/j.gene.2019.04.002. Epub 2019 Apr 3. Gene. 2019. PMID: 30951856

3

Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.

Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Skakic A, et al. Clin Genet. 2018 Feb;93(2):350-355. doi: 10.1111/cge.13093. Epub 2017 Dec 11. Clin Genet. 2018. PMID: 28685844

4

Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.

Klaassen K, Djordjevic M, Skakic A, Desviat LR, Pavlovic S, Perez B, Stojiljkovic M. Klaassen K, et al. Among authors: skakic a. Biochem Genet. 2018 Oct;56(5):533-541. doi: 10.1007/s10528-018-9858-5. Epub 2018 Apr 13. Biochem Genet. 2018. PMID: 29654578

5

A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.

Anastasovska V, Kocova M, Zdraveska N, Stojiljkovic M, Skakic A, Klaassen K, Pavlovic S. Anastasovska V, et al. Among authors: skakic a. Endocrine. 2021 Jul;73(1):196-202. doi: 10.1007/s12020-021-02680-7. Epub 2021 Mar 14. Endocrine. 2021. PMID: 33715135

6

Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases.

Andjelkovic M, Skakic A, Ugrin M, Spasovski V, Klaassen K, Pavlovic S, Stojiljkovic M. Andjelkovic M, et al. Among authors: skakic a. Life (Basel). 2022 Sep 8;12(9):1396. doi: 10.3390/life12091396. Life (Basel). 2022. PMID: 36143432 Free PMC article. Review.

7

Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier.

Klaassen K, Djordjevic M, Skakic A, Kecman B, Drmanac R, Pavlovic S, Stojiljkovic M. Klaassen K, et al. Among authors: skakic a. Mol Genet Metab Rep. 2021 Nov 19;29:100822. doi: 10.1016/j.ymgmr.2021.100822. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34900593 Free PMC article.

8

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants.

Andjelkovic M, Minic P, Vreca M, Stojiljkovic M, Skakic A, Sovtic A, Rodic M, Skodric-Trifunovic V, Maric N, Visekruna J, Spasovski V, Pavlovic S. Andjelkovic M, et al. Among authors: skakic a. PLoS One. 2018 Oct 9;13(10):e0205422. doi: 10.1371/journal.pone.0205422. eCollection 2018. PLoS One. 2018. PMID: 30300419 Free PMC article.

9

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.

Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M. Milacic I, et al. Among authors: skakic a. J Endocrinol Invest. 2015 Nov;38(11):1199-210. doi: 10.1007/s40618-015-0366-8. Epub 2015 Aug 2. J Endocrinol Invest. 2015. PMID: 26233337

10

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.

Stevanovic N, Skakic A, Minic P, Sovtic A, Stojiljkovic M, Pavlovic S, Andjelkovic M. Stevanovic N, et al. Among authors: skakic a. Int J Mol Sci. 2021 Aug 17;22(16):8821. doi: 10.3390/ijms22168821. Int J Mol Sci. 2021. PMID: 34445527 Free PMC article.

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