Works by Debeljak, Maruša

Results: 35

Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia.

Published in:

Leukemia & Lymphoma, 2012, v. 53, n. 6, p. 1096, doi. 10.3109/10428194.2011.639880

By:

Erčulj, Nina;
Kotnik, Barbara Faganel;
Debeljak, Maruša;
Jazbec, Janez;
Dolžan, Vita

Publication type:

Article

Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood.

Published in:

Leukemia & Lymphoma, 2009, v. 50, n. 10, p. 1693, doi. 10.1080/10428190903177212

By:

Rajić, Vladan;
Aplenc, Richard;
Debeljak, Maruša;
Prestor, Veronika Velenšek;
Karas-Kuželicki, Nataša;
MlinariČ-RašČan, Irena;
Jazbec, Janez

Publication type:

Article

No evidence of association of methylenetetrahydrofolate reductase polymorphism with occurrence of second neoplasms after treatment of childhood leukemia.

Published in:

Leukemia & Lymphoma, 2005, v. 46, n. 6, p. 893, doi. 10.1080/10428190500086428

By:

Jazbec, Janez;
Kitanovski, Lidija;
Aplenc, Richard;
Debeljak, Maruša;
Dolžan, Vita

Publication type:

Article

Integrating Genetic Insights, Technological Advancements, Screening, and Personalized Pharmacological Interventions in Childhood Obesity.

Published in:

Advances in Therapy, 2025, v. 42, n. 1, p. 72, doi. 10.1007/s12325-024-03057-8

By:

Šket, Robert;
Slapnik, Barbara;
Kotnik, Primož;
Črepinšek, Klementina;
Čugalj Kern, Barbara;
Tesovnik, Tine;
Jenko Bizjan, Barbara;
Vrhovšek, Blaž;
Remec, Žiga I.;
Debeljak, Maruša;
Battelino, Tadej;
Kovač, Jernej

Publication type:

Article

Cathepsin C Gene 5′-Untranslated Region Mutation in Papillon-Lefèvre Syndrome.

Published in:

Dermatology (10188665), 2013, v. 225, n. 3, p. 193, doi. 10.1159/000342509

By:

Kosem, Rok;
Debeljak, Maruša;
Repič Lampret, Barbka;
Kansky, Aleksej;
Battelino, Tadej;
Trebušak Podkrajšek, Katarina

Publication type:

Article

The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana.

Published in:

Life (2075-1729), 2024, v. 14, n. 9, p. 1118, doi. 10.3390/life14091118

By:

Peterlin, Ana;
Bertok, Sara;
Writzl, Karin;
Lovrečić, Luca;
Maver, Aleš;
Peterlin, Borut;
Debeljak, Maruša;
Nosan, Gregor

Publication type:

Article

Polymorphisms in GRIA1 gene are a risk factor for asparaginase hypersensitivity during the treatment of childhood acute lymphoblastic leukemia.

Published in:

Leukemia & Lymphoma, 2015, v. 56, n. 11, p. 3103, doi. 10.3109/10428194.2015.1020802

By:

Rajić, Vladan;
Debeljak, Maruša;
Goričar, Katja;
Jazbec, Janez

Publication type:

Article

Heterozygous NPR2 Variants in Idiopathic Short Stature.

Published in:

Genes, 2022, v. 13, n. 6, p. 1065, doi. 10.3390/genes13061065

By:

Stavber, Lana;
Gaia, Maria Joao;
Hovnik, Tinka;
Jenko Bizjan, Barbara;
Debeljak, Maruša;
Kovač, Jernej;
Omladič, Jasna Šuput;
Battelino, Tadej;
Kotnik, Primož;
Dovč, Klemen

Publication type:

Article

The Role of Epigenetic Modifications in Late Complications in Type 1 Diabetes.

Published in:

Genes, 2022, v. 13, n. 4, p. 705, doi. 10.3390/genes13040705

By:

Čugalj Kern, Barbara;
Trebušak Podkrajšek, Katarina;
Kovač, Jernej;
Šket, Robert;
Jenko Bizjan, Barbara;
Tesovnik, Tine;
Debeljak, Maruša;
Battelino, Tadej;
Bratina, Nataša

Publication type:

Article

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism.

Published in:

Acta Chimica Slovenica, 2021, v. 68, n. 3, p. 683, doi. 10.17344/acsi.2021.6690

By:

Hovnik, Tinka;
Debeljak, Maruša;
Pompe, Manca Tekavčič;
Bertok, Sara;
Battelino, Tadej;
Kranjc, Branka Stirn;
Podkrajšek, Katarina Trebušak

Publication type:

Article

Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.

Published in:

Ophthalmic Genetics, 2025, v. 46, n. 3, p. 285, doi. 10.1080/13816810.2025.2462987

By:

Koce, Maša;
Fakin, Ana;
Markelj, Špela;
Debeljak, Maruša;
Kovač, Jernej;
Lisec, Ajda;
Bertok, Sara;
Meglič, Anamarija

Publication type:

Article

Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients.

Published in:

Mediators of Inflammation, 2015, v. 2015, p. 1, doi. 10.1155/2015/293417

By:

Perko, Daša;
Debeljak, Maruša;
Toplak, Nataša;
Avčin, Tadej

Publication type:

Article

DNA repair polymorphisms influence the risk of second neoplasm after treatment of childhood acute lymphoblastic leukemia.

Published in:

Journal of Cancer Research & Clinical Oncology, 2012, v. 138, n. 11, p. 1919, doi. 10.1007/s00432-012-1265-4

By:

Erčulj, Nina;
Faganel Kotnik, Barbara;
Debeljak, Maruša;
Jazbec, Janez;
Dolžan, Vita

Publication type:

Article

Heterozygous Genetic Variants in Autosomal Recessive Genes of the Leptin-Melanocortin Signalling Pathway Are Associated With the Development of Childhood Obesity.

Published in:

Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.832911

By:

Šket, Robert;
Kotnik, Primož;
Bizjan, Barbara Jenko;
Kocen, Valentina;
Mlinarič, Matej;
Tesovnik, Tine;
Debeljak, Maruša;
Battelino, Tadej;
Kovač, Jernej

Publication type:

Article

Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

Published in:

Blood Transfusion (17232007), 2015, v. 13, n. 4, p. 622, doi. 10.2450/2015.0321-14

By:

Bakija, Alenka Trampuš;
Debeljak, Maruša;
Zupan, Irena Preložnik;
Dolničar, Majda Benedik;
Kovač, Jernej;
Jazbec, Janez

Publication type:

Article

Rituximab for the treatment of high titre inhibitors in mild haemophilia A.

Published in:

Blood Transfusion (17232007), 2014, v. 12, p. s345, doi. 10.2450/2013.0229-12

By:

Dolničar, Majda Benedik;
Rajić, Vladan;
Kitanovski, Lidija;
Debeljak, Maruša

Publication type:

Article

The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification: a case report.

Published in:

BMC Psychiatry, 2019, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12888-019-2047-1

By:

Plemeniti Tololeski, Barbara;
Debeljak, Maruša;
Perkovič Benedik, Mirjana;
Rigler, Tristan;
Kyriakopoulos, Marinos;
Kotnik, Primož;
Šurlan Popovič, Katarina;
Drobnič Radobuljac, Maja

Publication type:

Article

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.581134

By:

Drole Torkar, Ana;
Avbelj Stefanija, Magdalena;
Bertok, Sara;
Trebušak Podkrajšek, Katarina;
Debeljak, Maruša;
Stirn Kranjc, Branislava;
Battelino, Tadej;
Kotnik, Primož

Publication type:

Article

Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.

Published in:

Journal of Clinical Immunology, 2016, v. 36, n. 8, p. 764, doi. 10.1007/s10875-016-0330-1

By:

Blazina, Štefan;
Markelj, Gašper;
Jeverica, Anja;
Toplak, Nataša;
Bratanič, Nevenka;
Jazbec, Janez;
Kopač, Peter;
Debeljak, Maruša;
Ihan, Alojz;
Avčin, Tadej

Publication type:

Article

X-linked lymphoproliferative disease with a novel SH2D1A gene mutation.

Published in:

Pediatric Blood & Cancer, 2008, v. 50, n. 1, p. 187, doi. 10.1002/pbc.21216

By:

Debeljak, Maruša;
Podkrajšek, Katarina Trebušak;
Aplenc, Richard;
Jazbec, Janez

Publication type:

Article

Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-43941-x

By:

Rojnik, Tamara;
Sedlar, Nataša;
Turk, Nana;
Kastrin, Andrej;
Debeljak, Maruša;
Božič Mijovski, Mojca

Publication type:

Article

Clinical Characteristics and Outcomes of Tympanomastoid Paragangliomas: A Report from Slovenia.

Published in:

Cancers, 2024, v. 16, n. 18, p. 3178, doi. 10.3390/cancers16183178

By:

Hribar, Manja;
Fošnarič, Iztok;
Matos, Aleš;
Šifrer, Robert;
Grošelj, Aleš;
Debeljak, Maruša;
Zidar, Nina;
Strojan, Primož;
Jenko, Klemen

Publication type:

Article

PAX5 Alterations in a Consecutive Childhood B-Cell Acute Lymphoblastic Leukemia Cohort Treated Using the ALL IC-BFM 2009 Protocol.

Published in:

Cancers, 2024, v. 16, n. 6, p. 1164, doi. 10.3390/cancers16061164

By:

Črepinšek, Klementina;
Klobučar, Nika;
Tesovnik, Tine;
Šket, Robert;
Jenko Bizjan, Barbara;
Kovač, Jernej;
Kavčič, Marko;
Prelog, Tomaž;
Kitanovski, Lidija;
Jazbec, Janez;
Debeljak, Maruša

Publication type:

Article

Integrative Transcriptomic Profiling of the Wilms Tumor.

Published in:

Cancers, 2023, v. 15, n. 15, p. 3846, doi. 10.3390/cancers15153846

By:

Avčin, Simona Lucija;
Črepinšek, Klementina;
Jenko Bizjan, Barbara;
Šket, Robert;
Kovač, Jernej;
Vrhovšek, Blaž;
Blazina, Jerca;
Blatnik, Olga;
Kordič, Robert;
Kitanovski, Lidija;
Jazbec, Janez;
Debeljak, Maruša;
Tesovnik, Tine

Publication type:

Article

Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation.

Published in:

Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0097-1

By:

Milenković, Jelena;
Vojinović, Jelena;
Debeljak, Maruša;
Toplak, Nataša;
Lazarević, Dragana;
Avèin, Tadej;
Jevtović-Stoimenov, Tatjana;
Pavlović, Dušica;
Bojanić, Vladmila;
Milojković, Maja;
Kocić, Gordana;
Veljković, Andrej

Publication type:

Article

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.

Published in:

2022

By:

Kavčič, Alja;
Homan, Matjaž;
Živanović, Milanka;
Debeljak, Maruša;
Butenko, Tita;
Torkar, Ana Drole;
Tanšek, Mojca Žerjav;
Bertok, Sara;
Battelino, Tadej;
Groselj, Urh

Publication type:

Case Study

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03486-2

By:

Kafol, Jan;
Gnidovec Strazisar, Barbara;
Drole Torkar, Ana;
Homan, Matjaz;
Bertok, Sara;
Mlinaric, Matej;
Sikonja, Jaka;
Kovač, Jernej;
Perkovic Benedik, Mirjana;
Kersnik Levart, Tanja;
Zerjav Tansek, Mojca;
Praprotnik, Marina;
Battelino, Tadej;
Debeljak, Maruša;
Groselj, Urh

Publication type:

Article

PIK3AP1 and SPON2 Genes Are Differentially Methylated in Patients With Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) Syndrome.

Published in:

Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01322

By:

Lovšin, Ema;
Kovač, Jernej;
Tesovnik, Tine;
Toplak, Nataša;
Perko, Daša;
Rozmarič, Tomaž;
Debeljak, Maruša;
Avčin, Tadej

Publication type:

Article

Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.

Published in:

Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01632

By:

Kopitar, Andreja N.;
Markelj, Gašper;
Oražem, Miha;
Blazina, Štefan;
Avčin, Tadej;
Ihan, Alojz;
Debeljak, Maruša

Publication type:

Article

The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy—A Case Report.

Published in:

Genes, 2025, v. 16, n. 2, p. 110, doi. 10.3390/genes16020110

By:

Gorjanc, Tevž;
Šikonja, Jaka;
Drole Torkar, Ana;
Žerjav Tanšek, Mojca;
Kovač, Jernej;
Bertok, Sara;
Debeljak, Maruša;
Dolenc-Stražar, Zvezdana;
Meznarič, Marija;
Mlakar, Jernej;
Topalović, Mirko;
Mlakar, Gorazd;
Battelino, Tadej;
Grošelj, Urh

Publication type:

Article

Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population/Selektivni Skrining Metaboličkih Poremećaja Kod Dečije Populacije U Sloveniji.

Published in:

Journal of Medical Biochemistry, 2014, v. 34, n. 1, p. 58, doi. 10.2478/jomb-2014-0056

By:

Lampret, Barbka Repič;
Murko, Simona;
Tanšek, Mojca Žerjav;
Podkrajšek, Katarina Trebušak;
Debeljak, Maruša;
Šmon, Andraž;
Battelino, Tadej

Publication type:

Article

Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia – ten years experience.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 5, p. 501, doi. 10.1515/jpem-2024-0537

By:

Anastasovska, Violeta;
Kocova, Mirjana;
Zdraveska, Nikolina;
Tesovnik, Tine;
Debeljak, Maruša;
Kovač, Jernej

Publication type:

Article

Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi--Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.

Published in:

Frontiers in Immunology, 2023, v. 13, p. 01, doi. 10.3389/fimmu.2022.1033513

By:

Železnik, Mojca;
Šalamon, Aneta Soltirovska;
Debeljak, Maruša;
Goropevšek, Aleš;
Šuštar, Nataša;
Ključevšek, Damjana;
Alojz, Ihan;
Avčin, Tadej

Publication type:

Article

Familiárna stredomorská horúčka - prvé skúsenosti na Slovensku.

Published in:

Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 1, p. 80

By:

Dallos, Tomáš;
Gálová, Lucia Lukáčiková;
Macejková, Eva;
Sedlačko, Jozef;
Toplak, Nataša;
Debeljak, Maruša;
Sargsyan, Hasmik;
Ilenčíková, Denisa;
Kovács, László

Publication type:

Article

Familiárni středozemní horečka v České republice.

Published in:

Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 1, p. 25

By:

Šedivá, Anna;
Maňásek, Viktor;
Gřegořová, Andrea;
Plevová, Pavlína;
Toplak, Nataša;
Debeljak, Maruša

Publication type:

Article