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Urinary tract effects of HPSE2 mutations.
Stuart HM, Roberts NA, Hilton EN, McKenzie EA, Daly SB, Hadfield KD, Rahal JS, Gardiner NJ, Tanley SW, Lewis MA, Sites E, Angle B, Alves C, Lourenço T, Rodrigues M, Calado A, Amado M, Guerreiro N, Serras I, Beetz C, Varga RE, Silay MS, Darlow JM, Dobson MG, Barton DE, Hunziker M, Puri P, Feather SA, Goodship JA, Goodship TH, Lambert HJ, Cordell HJ; UK VUR Study Group; Saggar A, Kinali M; 4C Study Group; Lorenz C, Moeller K, Schaefer F, Bayazit AK, Weber S, Newman WG, Woolf AS. Stuart HM, et al. Among authors: weber s. J Am Soc Nephrol. 2015 Apr;26(4):797-804. doi: 10.1681/ASN.2013090961. Epub 2014 Aug 21. J Am Soc Nephrol. 2015. PMID: 25145936 Free PMC article.
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F. Weber S, et al. Pediatr Nephrol. 2005 Aug;20(8):1036-42. doi: 10.1007/s00467-005-1977-7. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912376
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: weber s. 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
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. 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: weber s. Pediatr Nephrol. 2009 Dec;24(12):2361-8. doi: 10.1007/s00467-009-1287-6. Epub 2009 Aug 14. Pediatr Nephrol. 2009. PMID: 19685083
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen AM, John U, Kemper M, Monnens L, Hoyer PF, Weber S, Konrad M. Büscher AK, et al. Among authors: weber s. Clin J Am Soc Nephrol. 2010 Nov;5(11):2075-84. doi: 10.2215/CJN.01190210. Epub 2010 Aug 26. Clin J Am Soc Nephrol. 2010. PMID: 20798252 Free PMC article.
3,508 results