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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies.
Bergmann C. Bergmann C. Pediatr Nephrol. 2015 Jan;30(1):15-30. doi: 10.1007/s00467-013-2706-2. Epub 2014 Mar 1. Pediatr Nephrol. 2015. PMID: 24584572 Free PMC article. Review.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C. Fehrenbach H, et al. Among authors: bergmann c. Pediatr Nephrol. 2014 Aug;29(8):1451-6. doi: 10.1007/s00467-014-2762-2. Epub 2014 Feb 7. Pediatr Nephrol. 2014. PMID: 24504730
[Genetics of congenital aniridia].
Neuhaus C, Betz C, Bergmann C, Bolz HJ. Neuhaus C, et al. Among authors: bergmann c. Ophthalmologe. 2014 Dec;111(12):1157-63. doi: 10.1007/s00347-014-3059-3. Ophthalmologe. 2014. PMID: 25475187 German.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: bergmann c. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
Polycystic kidney disease.
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Bergmann C, et al. Nat Rev Dis Primers. 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. Nat Rev Dis Primers. 2018. PMID: 30523303 Free PMC article. Review.
Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD).
Ling G, Landau D, Bergmann C, Maor E, Yerushalmi B. Ling G, et al. Among authors: bergmann c. Clin Nephrol. 2015 May;83(5):297-300. doi: 10.5414/CN108345. Clin Nephrol. 2015. PMID: 25250579
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
Bergmann C, Frank V, Küpper F, Schmidt C, Senderek J, Zerres K. Bergmann C, et al. J Hum Genet. 2006;51(9):788-793. doi: 10.1007/s10038-006-0022-4. Epub 2006 Aug 3. J Hum Genet. 2006. PMID: 16897190
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD).
Moser M, Matthiesen S, Kirfel J, Schorle H, Bergmann C, Senderek J, Rudnik-Schöneborn S, Zerres K, Buettner R. Moser M, et al. Among authors: bergmann c. Hepatology. 2005 May;41(5):1113-21. doi: 10.1002/hep.20655. Hepatology. 2005. PMID: 15830394
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Bergmann C, et al. Hum Mutat. 2005 Mar;25(3):225-31. doi: 10.1002/humu.20145. Hum Mutat. 2005. PMID: 15706593 Review.
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Bergmann C, et al. Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. Kidney Int. 2005. PMID: 15698423
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