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Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR.
Arbeiter A, Büscher R, Bonzel KE, Wingen AM, Vester U, Wohlschläger J, Zerres K, Nürnberger J, Bergmann C, Hoyer PF. Arbeiter A, et al. Among authors: bergmann c. Nephrol Dial Transplant. 2008 Sep;23(9):3026-9. doi: 10.1093/ndt/gfn288. Epub 2008 May 23. Nephrol Dial Transplant. 2008. PMID: 18503009 No abstract available.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
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: bergmann c. 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.
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger T, Decker C, Hiersche M, Hamann RC, Decker E, Neuber S, Frank V, Bolz HJ, Fehrenbach H, Pape L, Toenshoff B, Mache C, Latta K, Bergmann C. Eisenberger T, et al. Among authors: bergmann c. PLoS One. 2015 Feb 3;10(2):e0116680. doi: 10.1371/journal.pone.0116680. eCollection 2015. PLoS One. 2015. PMID: 25646624 Free PMC article.
Rationale, design and objectives of ARegPKD, a European ARPKD registry study.
Ebner K, Feldkoetter M, Ariceta G, Bergmann C, Buettner R, Doyon A, Duzova A, Goebel H, Haffner D, Hero B, Hoppe B, Illig T, Jankauskiene A, Klopp N, König J, Litwin M, Mekahli D, Ranchin B, Sander A, Testa S, Weber LT, Wicher D, Yuzbasioglu A, Zerres K, Dötsch J, Schaefer F, Liebau MC; ESCAPE Study Group; GPN Study Group. Ebner K, et al. Among authors: bergmann c. BMC Nephrol. 2015 Feb 18;16:22. doi: 10.1186/s12882-015-0002-z. BMC Nephrol. 2015. PMID: 25886171 Free PMC article.
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS.
Korkmaz E, Lipska-Ziętkiewicz BS, Boyer O, Gribouval O, Fourrage C, Tabatabaei M, Schnaidt S, Gucer S, Kaymaz F, Arici M, Dinckan A, Mir S, Bayazit AK, Emre S, Balat A, Rees L, Shroff R, Bergmann C, Mourani C, Antignac C, Ozaltin F, Schaefer F; PodoNet Consortium. Korkmaz E, et al. Among authors: bergmann c. J Am Soc Nephrol. 2016 Jan;27(1):63-8. doi: 10.1681/ASN.2014121240. Epub 2015 May 12. J Am Soc Nephrol. 2016. PMID: 25967120 Free PMC article.
Advances in renal genetic diagnosis.
Bergmann C. Bergmann C. Cell Tissue Res. 2017 Jul;369(1):93-104. doi: 10.1007/s00441-017-2636-6. Epub 2017 Jun 9. Cell Tissue Res. 2017. PMID: 28597138 Review.
737 results