Glutathione S-Transferase Gene Polymorphisms as Predictors of Methotrexate Efficacy in Juvenile Idiopathic Arthritis.

Autor: Huljev Frkovic S; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, 10000 Zagreb, Croatia., Jelusic M; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, 10000 Zagreb, Croatia., Crkvenac Gornik K; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Rogic D; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, 10000 Zagreb, Croatia., Frkovic M; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb School of Medicine, 10000 Zagreb, Croatia.

Publikováno v: Biomedicines [Biomedicines] 2024 Jul 24; Vol. 12 (8). Date of Electronic Publication: 2024 Jul 24.

The Association of HMGB1 and RAGE Gene Polymorphisms with IgA Vasculitis.

Autor: Batnozic Varga M; Department of Paediatrics, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, University Hospital Centre Osijek, Osijek, Croatia., Held M; Division of Clinical Immunology, Rheumatology and Allergology, Department of Paediatrics, University of Zagreb School of Medicine, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000, Zagreb, Croatia., Wagner J; Department of Medical Biology and Genetics, Faculty of Medicine Osijek, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia., Arvaj N; Department of Medical Biology and Genetics, Faculty of Medicine Osijek, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia., Sestan M; Division of Clinical Immunology, Rheumatology and Allergology, Department of Paediatrics, University of Zagreb School of Medicine, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000, Zagreb, Croatia., Sapina M; Department of Paediatrics, Josip Juraj Strossmayer University of Osijek, Faculty of Medicine Osijek, University Hospital Centre Osijek, Osijek, Croatia., Kifer N; Division of Clinical Immunology, Rheumatology and Allergology, Department of Paediatrics, University of Zagreb School of Medicine, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000, Zagreb, Croatia., Grguric D; Division of Clinical Immunology, Rheumatology and Allergology, Department of Paediatrics, University of Zagreb School of Medicine, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000, Zagreb, Croatia., Crkvenac Gornik K; Department of Laboratory Diagnostics, University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia., Gagro A; Department of Paediatrics, Children's Hospital Zagreb, Zagreb, Croatia., Frkovic M; Division of Clinical Immunology, Rheumatology and Allergology, Department of Paediatrics, University of Zagreb School of Medicine, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000, Zagreb, Croatia., Jelusic M; Division of Clinical Immunology, Rheumatology and Allergology, Department of Paediatrics, University of Zagreb School of Medicine, Centre of Reference for Paediatric and Adolescent Rheumatology of Ministry of Health of the Republic Croatia, University Hospital Centre Zagreb, Kispaticeva 12, 10 000, Zagreb, Croatia. marija.jelusic@mef.hr.

Publikováno v: Biochemical genetics [Biochem Genet] 2024 Jun; Vol. 62 (3), pp. 2268-2278. Date of Electronic Publication: 2023 Oct 30.

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.

Autor: Huljev Frković S; Department of Paediatrics, Division for genetics and metabolism, University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Croatia., Vičić A; Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital 'Sveti Duh', Zagreb, Croatia.; University of Applied Health Sciences, Zagreb, Croatia., Crkvenac Gornik K; Department of Laboratory Diagnostics, Division of Cytogenetics, University Hospital Centre Zagreb, Zagreb, Croatia., Kulišić D; Department of Gynecology and Obstetrics, General Hospital Zadar, Zadar, Croatia., Stipoljev F; Cytogenetic Laboratory, Department of Obstetrics and Gynecology, Clinical Hospital 'Sveti Duh', Zagreb, Croatia.; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jun; Vol. 188 (6), pp. 1826-1830. Date of Electronic Publication: 2022 Feb 15.

Cytogenetic analysis of turner syndrome

Autor: Letica, L, Lasan, R, Tonković Ð, urišević, I, Crkvenac Gornik, K, Burek, M, Begović, D

Turner syndrome is caused by the absence of all or part of the second sex chromosome. In our study on 100 female patients clinically diagnosed with Turner syndrome: 46 patients were 45, X 10 patients were mos 45, X/46, XX 2 patients were mos 45, X/47

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::0038301c876626f9dcdd222fa979cd2c
https://www.bib.irb.hr/409510

Family reciprocal translocation (8 ; 16)

Autor: Burek, M, Letica, L, Tonkovic Durisevic, I, Crkvenac Gornik, K, Lasan, R, Muzinic, D, Begovic, D

Amniotic fluid sample from 32 year old pregnant woman was taken and send in our laboratory to perform prenatal cytogenetic diagnosis by standard techniques with GTG staining. Result was karyotype with reciprocal balanced translocation 46, XY, t(8 ; 1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::7dc76b3ab7b8442ad9b38c9ea35ca43a
https://www.bib.irb.hr/409483