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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: sikora p. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nürnberg G, Yigit G, Salido EC, Hoppe B. Beck BB, et al. Among authors: sikora p. Eur J Hum Genet. 2013 Feb;21(2):162-72. doi: 10.1038/ejhg.2012.139. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781098 Free PMC article.
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
Sikora P, Zaniew M, Haisch L, Pulcer B, Szczepańska M, Moczulska A, Rogowska-Kalisz A, Bieniaś B, Tkaczyk M, Ostalska-Nowicka D, Zachwieja K, Hyla-Klekot L, Schlingmann KP, Konrad M. Sikora P, et al. Nephrol Dial Transplant. 2015 Apr;30(4):636-44. doi: 10.1093/ndt/gfu374. Epub 2014 Dec 3. Nephrol Dial Transplant. 2015. PMID: 25477417
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: sikora p. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 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: sikora p. Nephrol Dial Transplant. 2018 Jan 1;33(1):85-94. doi: 10.1093/ndt/gfw350. Nephrol Dial Transplant. 2018. PMID: 27708066
130 results