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Page 1
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, Halbritter J, Sayer JA, Fathy HM, Baum MA, Shril S, Mane S, Alper SL, Hildebrandt F. Majmundar AJ, et al. Among authors: tasic v. Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6. Genet Med. 2023. PMID: 36571463 Free PMC article.
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Martino J, Liu Q, Vukojevic K, Ke J, Lim TY, Khan A, Gupta Y, Perez A, Yan Z, Milo Rasouly H, Vena N, Lippa N, Giordano JL, Saraga M, Saraga-Babic M, Westland R, Bodria M, Piaggio G, Bendapudi PK, Iglesias AD, Wapner RJ, Tasic V, Wang F, Ionita-Laza I, Ghiggeri GM, Kiryluk K, Sampogna RV, Mendelsohn CL, D'Agati VD, Gharavi AG, Sanna-Cherchi S. Martino J, et al. Among authors: tasic v. Genet Med. 2023 Dec;25(12):100983. doi: 10.1016/j.gim.2023.100983. Epub 2023 Sep 21. Genet Med. 2023. PMID: 37746849
Clinical and genetic characteristics of Dent's disease type 1 in Europe.
Burballa C, Cantero-Recasens G, Prikhodina L, Lugani F, Schlingmann K, Ananin PV, Besouw M, Bockenhauer D, Madariaga L, Bertholet-Thomas A, Taroni F, Parolin M, Conlon P, Emma F, Del Prete D, Chauveau D, Koster-Kamphuis L, Fila M, Pasini A, Castro I, Colussi G, Gil M, Mohidin B, Wlodkowski T, Schaefer F, Ariceta G; DENT study group. Burballa C, et al. Nephrol Dial Transplant. 2023 May 31;38(6):1497-1507. doi: 10.1093/ndt/gfac310. Nephrol Dial Transplant. 2023. PMID: 36441012
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
Toyoda Y, Cho SK, Tasic V, Pavelcová K, Bohatá J, Suzuki H, David VA, Yoon J, Pallaiova A, Šaligová J, Nousome D, Cachau R, Winkler CA, Takada T, Stibůrková B. Toyoda Y, et al. Among authors: tasic v. Front Genet. 2023 Jan 17;13:1048330. doi: 10.3389/fgene.2022.1048330. eCollection 2022. Front Genet. 2023. PMID: 36733941 Free PMC article.
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Günthner R, Knipping L, Jeruschke S, Satanoskij R, Lorenz-Depiereux B, Hemmer C, Braunisch MC, Riedhammer KM, Ćomić J, Tönshoff B, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Buiting K, Gjorgjievski N, Momirovska A, Patzer L, Kirschstein M, Gross O, Lungu A, Weber S, Renders L, Heemann U, Meitinger T, Büscher AK, Hoefele J. Günthner R, et al. Among authors: tasic v. Front Med (Lausanne). 2022 Oct 20;9:953643. doi: 10.3389/fmed.2022.953643. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36341250 Free PMC article.
Diagnostic and therapeutic management of vesico-ureteral reflux in pediatric kidney transplantation-Results of an online survey on behalf of the European Society for Paediatric Nephrology.
Zirngibl M, Buder K, Luithle T, Tönshoff B, Weitz M; Members of the “Transplantation Working Group” of the European Society for Paediatric Nephrology (ESPN). Zirngibl M, et al. Pediatr Transplant. 2023 Mar;27(2):e14449. doi: 10.1111/petr.14449. Epub 2022 Dec 7. Pediatr Transplant. 2023. PMID: 36478499 Free article.
Diversity of kidney care referral pathways in national child health systems of 48 European countries.
Tasic V, Edvardsson VO, Preka E, Prikhodina L, Stefanidis CJ, Topaloglu R, Shtiza D, Sarkissian A, Mueller-Sacherer T, Fataliyeva R, Kazyra I, Levtchenko E, Pokrajac D, Roussinov D, Milošević D, Elia A, Seeman T, Faerch M, Vainumae I, Kataja J, Tsimaratos M, Rtskhiladze I, Hoyer PF, Reusz G, Awan A, Lotan D, Peruzzi L, Nigmatullina N, Beishebaeva N, Jeruma E, Jankauskiene A, Niel O, Said-Conti V, Ciuntu A, Pavićević S, Oosterveld M, Bjerre A, Tkaczyk M, Teixeira A, Lungu AC, Tsygin A, Stojanović V, Podracka L, Kersnik Levart T, Espino-Hernández M, Brandström P, Sparta G, Alpay H, Ivanov D, Dudley J, Khamzaev K, Haffner D, Ehrich J. Tasic V, et al. Front Pediatr. 2024 Jan 16;12:1327422. doi: 10.3389/fped.2024.1327422. eCollection 2024. Front Pediatr. 2024. PMID: 38292210 Free PMC article.
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, Berutti R, Weidenbusch M, Patzer L, Lungu A, Milosevski-Lomic G, Günthner R, Braunisch MC, Ćomić J, Hoefele J. Riedhammer KM, et al. Among authors: tasic v. Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12. Clin Genet. 2024. PMID: 38214412
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M, Kołek MF, Motyka R, Bieniaś B, Habbig S, Burgmaier K, Prikhodina L, Papizh S, Tasic V, Okorn C, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Tkaczyk M, Pańczyk-Tomaszewska M, Miklaszewska M, Pawlaczyk K, Bukowska-Olech E, Jamsheer A, Jankauskiene A, König J, Cheong HI, Ahn YH, Kaspar S, Sikora P, Beck BB, Zaniew M. Kołbuc M, et al. Among authors: tasic v. Pediatr Nephrol. 2024 Jun;39(6):1847-1858. doi: 10.1007/s00467-023-06262-9. Epub 2024 Jan 10. Pediatr Nephrol. 2024. PMID: 38196016 Free PMC article. Clinical Trial.
231 results