Association of Glutathione Transferase M1, T1, P1 and A1 Gene Polymorphism and Susceptibility to IgA Vasculitis.

Autor: Juras, Ana, Crkvenac Gornik, Kristina, Held, Martina, Sestan, Mario, Turudic, Daniel, Sapina, Matej, Srsen, Sasa, Huljev Frkovic, Sanda, Frkovic, Marijan, Gagro, Alenka, Jelusic, Marija

Publikováno v: International Journal of Molecular Sciences; Jul2024, Vol. 25 Issue 14, p7777, 13p

Unusual Case of Patient with Klinefelter Syndrome With Shox Deletion Born to the Mother With LeriWeill Dyschondrosteosis

Autor: Krnic, Nevena, Huljev Frkovic, Sanda, Dumic Kubat, Katja, Braovac, Duje, Spehar Uroic, Anita

Introducton: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47, XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::b510148e387ecabffdcff27d6bd609c0
https://www.bib.irb.hr/1039066

Two sides of the same coin: a complex presentation of autosomal dominant tubulointerstitial kidney diseases: a literature review and case reports.

Autor: Fistrek Prlic M; Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, University Hospital Center Zagreb, Zagreb, Croatia., Huljev Frkovic S; Department of Pediatrics, Division of Genetics and Metabolism, University Hospital Center Zagreb, Zagreb, Croatia.; University of Zagreb, School of Medicine, Zagreb, Croatia., Beck B; Institute of Human Genetics, University of Cologne, Cologne, Germany., Tonkovic Durisevic I; Department of Laboratory Diagnostics, Division of Cytogenetics, University Hospital Center Zagreb, Zagreb, Croatia., Bulimbasic S; University of Zagreb, School of Medicine, Zagreb, Croatia.; Department of Pathology, University Hospital Center Zagreb, Zagreb, Croatia., Coric M; University of Zagreb, School of Medicine, Zagreb, Croatia.; Department of Pathology, University Hospital Center Zagreb, Zagreb, Croatia., Lamot L; University of Zagreb, School of Medicine, Zagreb, Croatia.; Department of Pediatrics, Division of Nephrology, Dialysis and Transplantation, University Hospital Center Zagreb, Zagreb, Croatia., Ivandic E; Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, University Hospital Center Zagreb, Zagreb, Croatia., Vukovic Brinar I; Department of Nephrology, Arterial Hypertension, Dialysis and Transplantation, University Hospital Center Zagreb, Zagreb, Croatia.; University of Zagreb, School of Medicine, Zagreb, Croatia.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Nov 10; Vol. 11, pp. 1283325. Date of Electronic Publication: 2023 Nov 10 (Print Publication: 2023).