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Items: 19

1.

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A.

Neurol Genet. 2018 Mar 27;4(2):e227. doi: 10.1212/NXG.0000000000000227. eCollection 2018 Apr. No abstract available.

2.

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.

BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. Review.

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.

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

PMID:
28685844
4.

Postprandial hyperinsulinemic hypoglycemia in a child as a late complication of esophageal reconstruction.

Vukovic R, Milenkovic T, Djordjevic M, Mitrovic K, Todorovic S, Sarajlija A, Hussain K.

J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):791-795. doi: 10.1515/jpem-2017-0139.

PMID:
28672750
5.

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.

Clin Genet. 2017 May;91(5):787-796. doi: 10.1111/cge.12927. Epub 2017 Mar 17.

PMID:
27883178
6.

Appendiceal involvement in a patient with Gaucher disease.

Kocic M, Djuricic SM, Djordjevic M, Savic D, Kecman B, Sarajlija A.

Blood Cells Mol Dis. 2018 Feb;68:109-111. doi: 10.1016/j.bcmd.2016.09.002. Epub 2016 Sep 30.

PMID:
27717752
7.

Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency.

Sarajlija A, Magner M, Djordjevic M, Kecman B, Grujic B, Tesarova M, Minic P.

Congenit Anom (Kyoto). 2017 Mar;57(2):64-65. doi: 10.1111/cga.12194. No abstract available.

PMID:
27649480
8.

DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E.

Nat Immunol. 2016 May;17(5):495-504. doi: 10.1038/ni.3409. Epub 2016 Mar 28.

9.

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.

Clin Genet. 2016 Sep;90(3):252-7. doi: 10.1111/cge.12751. Epub 2016 Mar 4.

PMID:
26830710
10.

Early Presentation of Hyperinsulinism/Hyperammonemia Syndrome in Three Serbian Patients.

Sarajlija A, Milenkovic T, Djordjevic M, Mitrovic K, Todorovic S, Kecman B, Hussain K.

J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):228-31. doi: 10.4274/jcrpe.2436. Epub 2015 Dec 18.

11.

Epidemiology of Rett syndrome in Serbia: prevalence, incidence and survival.

Sarajlija A, Kisic-Tepavcevic D, Nikolic Z, Savic Pavicevic D, Obradovic S, Djuric M, Pekmezovic T.

Neuroepidemiology. 2015;44(1):1-5. doi: 10.1159/000369494. Epub 2015 Jan 7.

PMID:
25571926
12.

Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia.

Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Kecman B, Ugrin M, Zukic B, Desviat LR, Pavlovic S, Perez B.

J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):477-80. doi: 10.1515/jpem-2014-0297.

PMID:
25418970
13.

Assessment of health status and quality of life of homeless persons in Belgrade, Serbia.

Sarajlija M, Jugović A, Zivaljević D, Merdović B, Sarajlija A.

Vojnosanit Pregl. 2014 Feb;71(2):167-74.

PMID:
24665575
14.

Health-related quality of life and depression in Rett syndrome caregivers.

Sarajlija A, Djurić M, Tepavcević DK.

Vojnosanit Pregl. 2013 Sep;70(9):842-7.

PMID:
24266312
15.

Vitamin D deficiency in Serbian patients with Rett syndrome.

Sarajlija A, Djuric M, Tepavcevic DK, Grkovic S, Djordjevic M.

J Clin Endocrinol Metab. 2013 Dec;98(12):E1972-8. doi: 10.1210/jc.2013-2627. Epub 2013 Oct 8.

PMID:
24106287
16.

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.

JIMD Rep. 2013;9:49-58. doi: 10.1007/8904_2012_178. Epub 2012 Oct 13.

17.

Pulmonary involvement in siblings with Gaucher disease type III.

Djordjević M, Minić P, Sarajlija A, Djuricic SM, Djokić D, Marković O.

Vojnosanit Pregl. 2011 Dec;68(12):1071-4.

PMID:
22352271
18.

Clinical characteristics of respiratory syncytial virus infection in neonates and young infants.

Savić N, Janković B, Minić P, Vasiljević Z, Sovtić A, Pejić K, Sarajlija A, Gazikalović S.

Vojnosanit Pregl. 2011 Mar;68(3):220-4.

PMID:
21524004
19.

[Use of mechanical ventilation in pediatric patients].

Martić J, Janković B, Minić P, Sovtić A, Nikolić L, Ristić S, Sarajlija A.

Vojnosanit Pregl. 2008 Dec;65(12):876-81. Serbian.

PMID:
19160980

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