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Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Among authors: giner t. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 Free PMC article.
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Hofer J, Janecke AR, Zimmerhackl LB, Riedl M, Rosales A, Giner T, Cortina G, Haindl CJ, Petzelberger B, Pawlik M, Jeller V, Vester U, Gadner B, van Husen M, Moritz ML, Würzner R, Jungraithmayr T; German-Austrian HUS Study Group. Hofer J, et al. Among authors: giner t. Clin J Am Soc Nephrol. 2013 Mar;8(3):407-15. doi: 10.2215/CJN.01260212. Epub 2012 Dec 14. Clin J Am Soc Nephrol. 2013. PMID: 23243267 Free PMC article.
Therapeutic plasma exchange in children: One center's experience.
Cortina G, Ojinaga V, Giner T, Riedl M, Waldegger S, Rosales A, Trojer R, Hofer J. Cortina G, et al. Among authors: giner t. J Clin Apher. 2017 Dec;32(6):494-500. doi: 10.1002/jca.21547. Epub 2017 May 9. J Clin Apher. 2017. PMID: 28485072
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V. Lhotta K, et al. Among authors: giner t. Clin J Am Soc Nephrol. 2009 Aug;4(8):1356-62. doi: 10.2215/CJN.06281208. Epub 2009 Jul 9. Clin J Am Soc Nephrol. 2009. PMID: 19590060 Free PMC article.
Successful management of recurrent focal segmental glomerulosclerosis.
Kienzl-Wagner K, Rosales A, Scheidl S, Giner T, Bösmüller C, Rudnicki M, Oberhuber R, Margreiter C, Soleiman A, Öfner D, Waldegger S, Schneeberger S. Kienzl-Wagner K, et al. Among authors: giner t. Am J Transplant. 2018 Nov;18(11):2818-2822. doi: 10.1111/ajt.14998. Epub 2018 Aug 13. Am J Transplant. 2018. PMID: 29962080 Free PMC article.
36 results