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231 results

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Page 1
Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.
Simpkin A, Cochran E, Cameron F, Dattani M, de Bock M, Dunger DB, Forsander G, Guran T, Harris J, Isaac I, Hussain K, Kleta R, Peters C, Tasic V, Williams R, Yap Kok Peng F, O''Rahilly S, Gorden P, Semple RK, Bockenhauer D. Simpkin A, et al. Among authors: tasic v. Nephron Physiol. 2014;128(3-4):55-61. doi: 10.1159/000366225. Epub 2014 Oct 24. Nephron Physiol. 2014. PMID: 25358339 Free PMC article.
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.
Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M. Bockenhauer D, et al. Among authors: tasic v. Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14. Clin J Am Soc Nephrol. 2008. PMID: 18480301 Free PMC article.
Dent-2 disease: a mild variant of Lowe syndrome.
Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M. Bökenkamp A, et al. Among authors: tasic v. J Pediatr. 2009 Jul;155(1):94-9. doi: 10.1016/j.jpeds.2009.01.049. J Pediatr. 2009. PMID: 19559295
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG. Keppler-Noreuil KM, et al. Among authors: tasic v. Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782230 Free PMC article.
Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D; European dRTA Consortium; Kleta R, Schaefer F, Bockenhauer D. Lopez-Garcia SC, et al. Among authors: tasic v. Nephrol Dial Transplant. 2019 Jun 1;34(6):981-991. doi: 10.1093/ndt/gfy409. Nephrol Dial Transplant. 2019. PMID: 30773598
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.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M, Bökenkamp A, Kolbuc M, La Scola C, Baronio F, Niemirska A, Szczepanska M, Bürger J, La Manna A, Miklaszewska M, Rogowska-Kalisz A, Gellermann J, Zampetoglou A, Wasilewska A, Roszak M, Moczko J, Krzemien A, Runowski D, Siten G, Zaluska-Lesniewska I, Fonduli P, Zurrida F, Paglialonga F, Gucev Z, Paripovic D, Rus R, Said-Conti V, Sartz L, Chung WY, Park SJ, Lee JW, Park YH, Ahn YH, Sikora P, Stefanidis CJ, Tasic V, Konrad M, Anglani F, Addis M, Cheong HI, Ludwig M, Bockenhauer D. Zaniew M, et al. Among authors: tasic v. Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94. doi: 10.1093/ndt/gfw350. Nephrol Dial Transplant. 2018. PMID: 27708066
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M. Recker F, et al. Among authors: tasic v. Pediatr Nephrol. 2015 Jun;30(6):931-43. doi: 10.1007/s00467-014-3013-2. Epub 2014 Dec 6. Pediatr Nephrol. 2015. PMID: 25480730
231 results