Weber S - Search Results

1

Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J. Weber S, et al. Among authors: weber lt. Pediatr Nephrol. 2016 Jun;31(6):941-55. doi: 10.1007/s00467-015-3302-4. Epub 2016 Jan 25. Pediatr Nephrol. 2016. PMID: 26809805

2

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Dietrich A, Matejas V, Bitzan M, Hashmi S, Kiraly-Borri C, Lin SP, Mildenberger E, Hoppe B, Palm L, Shiihara T, Steiss JO, Tsai JD, Vester U, Weber S, Wühl E, Zepf K, Zenker M. Dietrich A, et al. Among authors: weber s. Pediatr Nephrol. 2008 Oct;23(10):1779-86. doi: 10.1007/s00467-008-0880-4. Epub 2008 Jul 2. Pediatr Nephrol. 2008. PMID: 18594871

3

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

4

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.

5

Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmüller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nürnberg P, Woolf AS. Weber S, et al. Am J Hum Genet. 2011 Nov 11;89(5):668-74. doi: 10.1016/j.ajhg.2011.10.007. Am J Hum Genet. 2011. PMID: 22077972 Free PMC article.

6

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

Büscher AK, Konrad M, Nagel M, Witzke O, Kribben A, Hoyer PF, Weber S. Büscher AK, et al. Among authors: weber s. Clin Nephrol. 2012 Jul;78(1):47-53. doi: 10.5414/cn107320. Clin Nephrol. 2012. PMID: 22732337

7

COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.

Strasser K, Hoefele J, Bergmann C, Büscher AK, Büscher R, Hoyer PF, Weber S. Strasser K, et al. Among authors: weber s. Nephrol Dial Transplant. 2012 Nov;27(11):4236-40. doi: 10.1093/ndt/gfs468. Nephrol Dial Transplant. 2012. PMID: 23144074

8

Protective effects of the mTOR inhibitor everolimus on cytoskeletal injury in human podocytes are mediated by RhoA signaling.

Jeruschke S, Büscher AK, Oh J, Saleem MA, Hoyer PF, Weber S, Nalbant P. Jeruschke S, et al. Among authors: weber s. PLoS One. 2013;8(2):e55980. doi: 10.1371/journal.pone.0055980. Epub 2013 Feb 13. PLoS One. 2013. PMID: 23418489 Free PMC article.

9

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.

Büscher R, Büscher AK, Weber S, Mohr J, Hegen B, Vester U, Hoyer PF. Büscher R, et al. Among authors: weber s. Pediatr Nephrol. 2014 Oct;29(10):1915-25. doi: 10.1007/s00467-013-2634-1. Epub 2013 Oct 10. Pediatr Nephrol. 2014. PMID: 24114580 Review.

10

Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.

Weber S, Büscher AK, Hagmann H, Liebau MC, Heberle C, Ludwig M, Rath S, Alberer M, Beissert A, Zenker M, Hoyer PF, Konrad M, Klein HG, Hoefele J. Weber S, et al. Pediatr Nephrol. 2016 Jan;31(1):73-81. doi: 10.1007/s00467-015-3167-6. Epub 2015 Aug 7. Pediatr Nephrol. 2016. PMID: 26248470

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