Sarajlija A - Search Results

1

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M. Aguilera C, et al. Among authors: sarajlija a. BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. BMC Med Genet. 2017. PMID: 29162042 Free PMC article. Review.

2

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B. Stojiljkovic M, et al. Among authors: sarajlija a. Clin Genet. 2016 Sep;90(3):252-7. doi: 10.1111/cge.12751. Epub 2016 Mar 4. Clin Genet. 2016. PMID: 26830710

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: sarajlija a. Clin Genet. 2018 Feb;93(2):350-355. doi: 10.1111/cge.13093. Epub 2017 Dec 11. Clin Genet. 2018. PMID: 28685844

4

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. 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

5

A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.

Sarajlija A, Armengol L, Maver A, Kitic I, Prokic D, Cehic M, Djuricic MS, Peterlin B. Sarajlija A, et al. Balkan J Med Genet. 2023 Mar 1;25(1):93-100. doi: 10.2478/bjmg-2022-0010. eCollection 2022 Jun. Balkan J Med Genet. 2023. PMID: 36880034 Free PMC article.

6

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.

Paripović A, Maver A, Stajić N, Putnik J, Ostojić S, Alimpić B, Ilić N, Sarajlija A. Paripović A, et al. Among authors: sarajlija a. Balkan J Med Genet. 2024 Mar 12;26(2):59-64. doi: 10.2478/bjmg-2023-0016. eCollection 2023 Dec. Balkan J Med Genet. 2024. PMID: 38482264 Free PMC article.

7

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Dvorakova L, Vlaskova H, Sarajlija A, Ramadza DP, Poupetova H, Hruba E, Hlavata A, Bzduch V, Peskova K, Storkanova G, Kecman B, Djordjevic M, Baric I, Fumic K, Barisic I, Reboun M, Kulhanek J, Zeman J, Magner M. Dvorakova L, et al. Among authors: sarajlija a. Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17. Clin Genet. 2017. PMID: 27883178

8

Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.

Raicevic M, Milenkovic T, Hussain K, Djordjevic M, Martic J, Todorovic S, Mitrovic K, Sarajlija A, Vukovic R. Raicevic M, et al. Among authors: sarajlija a. Eur J Pediatr. 2021 Sep;180(9):2815-2821. doi: 10.1007/s00431-021-04051-w. Epub 2021 Mar 26. Eur J Pediatr. 2021. PMID: 33770274

9

Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene.

Basa M, Vukovic R, Sarajlija A, Milenkovic T, Djordjevic M, Vucetic B, Martic J. Basa M, et al. Among authors: sarajlija a. Acta Endocrinol (Buchar). 2021 Jul-Sep;17(3):402-405. doi: 10.4183/aeb.2021.402. Acta Endocrinol (Buchar). 2021. PMID: 35342471 Free PMC article.

10

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

Parezanović M, Ilić N, Ostojić S, Stevanović G, Ječmenica J, Maver A, Sarajlija A. Parezanović M, et al. Among authors: sarajlija a. Balkan J Med Genet. 2023 Jul 31;26(1):63-68. doi: 10.2478/bjmg-2023-0008. eCollection 2023 Jul. Balkan J Med Genet. 2023. PMID: 37576789 Free PMC article.

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