Researchers

Results 61-80 of 137
Issue DateTitleAuthor(s)TypeМp-cat.
2019Genomic profiling of glycogen storage diseasesSkakic, Anita  ; Anđelković, Marina  ; Tošic, Natasa  ; Kristel Klaassen  ; Spasovski, Vesna  ; Ristivojević, Bojan  ; Đorđević, Maja; Sarajlija, Adrijan; Pavlović, Sonja  ; Stojiljković, Maja  Conference Paper
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2019The importance of comprehensive genomic profiling in differential diagnosis and discovery of novel disease causing genetic variants in patients with pediatric lung diseasesAnđelković, Marina  ; Minić, Predrag ; Vreća, Miša ; Stojiljković, Maja  ; Skakić, Anita  ; Sovtić, Aleksandar  ; Rodić, M.; Škodrić-Trifunović, Vesna ; Marić, N.; Višekruna, J.;
Spasovski, Vesna  ; Pavlović, Sonja  ;
Conference Paper
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2019HYPERPHENYLALANINEMIA: FROM COMPLEX GENETICS TO COMPLEX PHENOTYPESKristel Klaassen  ; Stojiljković, Maja  ; Đorđević, Maja; Skakić, Anita  ; Srzentić, Sanja  ; Drmanac, Radoje; Pavlović, Sonja  Conference Paper
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2019Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?van, Vliet Danique; van, Wegberg Annemiek M.J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Hertecant, Jozef L.; Leuzzi, Vincenzo; Mathisen, Per;
Nardecchia, Francesca; Powell, Kimberly K.; Rutsch, Frank; Stojiljković, Maja  ; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; van, Karnebeek Clara D.; Hanley, William B.; van, Spronsen Francjan J.;
Article
21M21
2019Genomic profiling of glycogen storage diseases: from NGS method to the CRISPR/Cas9 technologySkakić, Anita  ; Anđelković, Marina  ; Tošić, Nataša  ; Kristel Klaassen  ; Spasovski, Vesna  ; Đorđević, Maja; Sarajlija, Adrijan; Pavlović, Sonja  ; Stojiljković, Maja  Conference Paper
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2019CRISPR/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 IbSkakic, Anita  ; Andjelkovic, Marina  ; Tošić, Nataša  ; Klaassen, Kristel  ; Djordjevic, Maja; Pavlović, Sonja  ; Stojiljković, Maja  Article
22M22
2019GENOMIC PROFILING OF GLYCOGEN STORAGE DISEASES: FROM THE NGS METHOD TO THE CRISPR/CAS9 TECHNOLOGYSkakić, Anita  ; Anđelković, Marina  ; Tošic, Nataša  ; Kristel Klaassen  ; Vesna Spasovski  ; Ristivojevic, Bojan  ; Đordjevic, Maja; Adrijan Sarajlija; Pavlović, Sonja  ; Stojiljković, Maja  Conference Paper
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2018Intra-articular injection of autologous adipose-derived mesenchymal stem cells in the treatment of knee osteoarthritisSpasovski, Duško  ; Spasovski, Vesna  ; Baščarević, Zoran  ; Stojiljković, Maja  ; Vreća, Miša ; Anđelković, Marina  ; Pavlović, Sonja  Article
22M22
2018Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular ModelKlaassen, Kristel  ; Djordjevic, Maja; Skakić, Anita  ; Desviat, Lourdes R.; Pavlović, Sonja  ; Perez, Belen; Stojiljković, Maja  Article
22M22
2018Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variantsAnđelković, Marina  ; Minić, Predrag ; Vreća, Miša ; Stojiljković, Maja  ; Skakić, Anita  ; Sovtić, Aleksandar  ; Rodić, Milan; Škodrić-Trifunović, Vesna  ; Marić, Nina; Višekruna, Jelena;
Spasovski, Vesna  ; Pavlović, Sonja  ;
Article
21M21
2018Application of Next-Generation Sequencing Technology and Establishment of BiobanksKaran-Đurašević, Teodora  ; Stojiljković, Maja  ; Tošić, Nataša  ; Zukić, Branka  ; Pavlović, Sonja  Conference Paper
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2018Can untreated PKU patients escape from intellectual disability? A systematic reviewvan Vliet, Danique; van Wegberg, Annemiek M. J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D.; Casas, Kari; Didycz, Bozena; Đorđević, Maja; Federico, Antonio;
Feillet, Francois; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L.; Hollak, Carla E. M.; Jorgensen, Jens V.; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan O.; Nardecchia, Francesca; Ounap, Katrin; Powell, Kimberly K.; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljković, Maja  ; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; van Karnebeek, Clara D.; Hanley, William B.; van Spronsen, Francjan J.;
Article
21M21
2018Ugt1a1 (ta)(n) promoter genotype: diagnostic and population pharmacogenetic marker in SerbiaVuković, Marija; Radlović, Nedeljko; Leković, Zoran  ; Vučićević, Ksenija  ; Marić, Nina; Kotur, Nikola  ; Gašić, Vladimir  ; Ugrin, Milena  ; Stojiljković, Maja  ; Krivokapić-Dokmanović, Lidija  ;
Zukić, Branka  ; Pavlović, Sonja  ;
Article
23M23
2018Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variantsSkakić, Anita  ; Đorđević, M.; Sarajlija, A.  ; Klaassen, Kristel  ; Tošić, Nataša  ; Kecman, B.; Ugrin, Milena  ; Spasovski, Vesna  ; Pavlović, Sonja  ; Stojiljković, Maja  Article
21M21
2017Precision molecular diagnostic of hepatic GSD revealed unexpectedly high incidence of gsd ib in serbian population and three novel variants in the SLC37A4 geneSkakic, Anita  ; Djordjevic, Maja; Adrijan Sarajlija; Kristel Klaassen  ; Tosic, Natasa  ; Bozica Kecman; Milena Ugrin; Vesna Spasovski  ; Pavlovic, Sonja  ; Stojiljkovic, Maja  Conference Paper
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2017Next generation sequencing in dystonia - our experienceNovaković, Ivana  ; Branković, Marija  ; Marjanovic, Ana ; Janković, Milena ; Dobričić, Valerija ; Stojiljković, Maja  ; Petrović, Igor  ; Pavlović, Sonja  ; Svetel, Marina ; Kostić, Vladimir Conference Paper
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2017New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitroKlaassen, Kristel  ; Stanković, Biljana  ; Kotur, Nikola  ; Đorđević, Maja; Zukić, Branka  ; Nikčević, Gordana  ; Ugrin, Milena  ; Spasovski, Vesna  ; Srzentić Dražilov, Sanja  ; Pavlović, Sonja  ;
Stojiljković, Maja  ;
Article
22M22
2017Molecular genetic strategy for diagnosis of congenital adrenal hyperplasia in SerbiaUgrin, Milena  ; Milačić, Iva; Skakić, Anita  ; Klaassen, Kristel  ; Komazec, Jovana  ; Pavlović, Sonja  ; Stojiljković, Maja  Article
23M23
2017Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylasePecimonova, Martina; Polak, Emil; Csicsay, Frantisek; Reblova, Kamila; Stojiljković, Maja  ; Levarski, Zdenko; Skultety, Ludovit; Kadasi, Ludevit; Soltysova, AndreaArticle
23M23
2017Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical PharmacogenomicsMizzi, Clint; Dalabira, Eleni; Kumuthini, Judit; Dzimiri, Nduna; Balogh, Istvan; Başak, Nazli; Böhm, Ruwen; Borg, Joseph; Borgiani, Paola; Bozina, Nada;
Bruckmueller, Henrike; Burzynska, Beata; Carracedo, Angel; Cascorbi, Ingolf; Deltas, Constantinos; Dolzan, Vita; Fenech, Anthony; Grech, Godfrey; Kasiulevicius, Vytautas; Kádaši, Ľudevít; Kučinskas, Vaidutis; Khusnutdinova, Elza; Loukas, Yiannis L.; Macek, Milan; Makukh, Halyna; Mathijssen, Ron; Mitropoulos, Konstantinos; Mitropoulou, Christina; Novelli, Giuseppe; Papantoni, Ioanna; Pavlović, Sonja  ; Saglio, Giuseppe; Sertić, Jadranka; Stojiljković, Maja  ; Stubbs, Andrew P.; Squassina, Alessio; Torres, Maria; Turnovec, Marek; van, Schaik Ron H.; Voskarides, Konstantinos; Wakil, Salma M.; Werk, Anneke; del, Zompo Maria; Zukić, Branka  ; Katsila, Theodora; Lee, Ming Ta Michael; Motsinger-Rief, Alison; Mc, Leod Howard L.; van, der Spek Peter J.; Patrinos, George P.;
Other
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