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Page 1
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F. Taskiran EZ, et al. Among authors: schaefer f. J Am Soc Nephrol. 2014 Aug;25(8):1653-61. doi: 10.1681/ASN.2013060646. Epub 2014 Mar 7. J Am Soc Nephrol. 2014. PMID: 24610927 Free PMC article.
Improved acidosis correction and recovery of mesothelial cell mass with neutral-pH bicarbonate dialysis solution among children undergoing automated peritoneal dialysis.
Haas S, Schmitt CP, Arbeiter K, Bonzel KE, Fischbach M, John U, Pieper AK, Schaub TP, Passlick-Deetjen J, Mehls O, Schaefer F. Haas S, et al. Among authors: schaefer f. J Am Soc Nephrol. 2003 Oct;14(10):2632-8. doi: 10.1097/01.asn.0000086475.83211.df. J Am Soc Nephrol. 2003. PMID: 14514742 Clinical Trial.
Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans.
Schönfelder EM, Knüppel T, Tasic V, Miljkovic P, Konrad M, Wühl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Schönfelder EM, et al. Among authors: schaefer f. Am J Kidney Dis. 2006 Jun;47(6):1004-12. doi: 10.1053/j.ajkd.2006.02.177. Am J Kidney Dis. 2006. PMID: 16731295
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Weber S, et al. Among authors: schaefer f. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13. J Am Soc Nephrol. 2006. PMID: 16971658
SIX2 and BMP4 mutations associate with anomalous kidney development.
Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine RD. Weber S, et al. Among authors: schaefer f. J Am Soc Nephrol. 2008 May;19(5):891-903. doi: 10.1681/ASN.2006111282. Epub 2008 Feb 27. J Am Soc Nephrol. 2008. PMID: 18305125 Free PMC article.
Functional analysis of BMP4 mutations identified in pediatric CAKUT patients.
Tabatabaeifar M, Schlingmann KP, Litwin M, Emre S, Bakkaloglu A, Mehls O, Antignac C, Schaefer F, Weber S; ESCAPE Trial Group. Tabatabaeifar M, et al. Among authors: schaefer f. Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14. Pediatr Nephrol. 2009. PMID: 19685083
800 results