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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
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.
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.
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R; European NDI Consortium; Bockenhauer D. Lopez-Garcia SC, et al. Nephrol Dial Transplant. 2020 Dec 26:gfaa243. doi: 10.1093/ndt/gfaa243. Online ahead of print. Nephrol Dial Transplant. 2020. PMID: 33367818
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
Two Brothers from Macedonia with Gitelman Syndrome.
Janchevska A, Tasic V, Jordanova O, Gucev Z, Jenkins L, Jovanovska N, Plaseska-Karanfilska D, Ashton E, Bockenhauer D. Janchevska A, et al. Among authors: tasic v. Balkan J Med Genet. 2023 Jul 31;26(1):69-74. doi: 10.2478/bjmg-2023-0009. eCollection 2023 Jul. Balkan J Med Genet. 2023. PMID: 37576796 Free PMC article.
Peripheral Insulin Edema and Pericardial Effusion in a 12-Year-Old Newly Diagnosed Girl with Type 1 Diabetes.
Janchevska A, Jovanovska V, Jordanova O, Beqiri-Jashari A, Krstevska-Konstantinova M, Tasic V, Gucev ZS. Janchevska A, et al. Among authors: tasic v. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2023 Jul 15;44(2):171-174. doi: 10.2478/prilozi-2023-0037. Print 2023 Jul 1. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2023. PMID: 37453114 Free article.
231 results