Stojiljkovic M - Search Results

1

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Andjelkovic M, Klaassen K, Skakic A, Marjanovic I, Kravljanac R, Djordjevic M, Vucetic Tadic B, Kecman B, Pavlovic S, Stojiljkovic M. Andjelkovic M, et al. Among authors: stojiljkovic m. Mol Diagn Ther. 2024 Sep;28(5):645-663. doi: 10.1007/s40291-024-00720-2. Epub 2024 Jul 14. Mol Diagn Ther. 2024. PMID: 39003674 Free PMC article.

2

Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

Djordjevic M, Klaassen K, Sarajlija A, Tosic N, Zukic B, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. Djordjevic M, et al. Among authors: stojiljkovic m. JIMD Rep. 2013;9:49-58. doi: 10.1007/8904_2012_178. Epub 2012 Oct 13. JIMD Rep. 2013. PMID: 23430547 Free PMC article.

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. Among authors: stojiljkovic m. 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: stojiljkovic m. 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

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: stojiljkovic m. PLoS One. 2018 Oct 9;13(10):e0205422. doi: 10.1371/journal.pone.0205422. eCollection 2018. PLoS One. 2018. PMID: 30300419 Free PMC article.

6

Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Klaassen K, Stankovic B, Zukic B, Kotur N, Gasic V, Pavlovic S, Stojiljkovic M. Klaassen K, et al. Among authors: stojiljkovic m. Infect Genet Evol. 2020 Oct;84:104498. doi: 10.1016/j.meegid.2020.104498. Epub 2020 Aug 7. Infect Genet Evol. 2020. PMID: 32771700 Free PMC article.

7

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: stojiljkovic m. Int J Mol Sci. 2021 Aug 17;22(16):8821. doi: 10.3390/ijms22168821. Int J Mol Sci. 2021. PMID: 34445527 Free PMC article.

8

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: stojiljkovic m. 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.

9

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: stojiljkovic m. Life (Basel). 2022 Sep 8;12(9):1396. doi: 10.3390/life12091396. Life (Basel). 2022. PMID: 36143432 Free PMC article. Review.

10

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: stojiljkovic m. 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

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