Hildebrandt F - Search Results

1

Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.

Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F. Braun DA, et al. Among authors: hildebrandt f. Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. doi: 10.2215/CJN.07540715. Epub 2016 Jan 19. Clin J Am Soc Nephrol. 2016. PMID: 26787776 Free PMC article.

2

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. Utsch B, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2006 Jan;21(1):32-5. doi: 10.1007/s00467-005-2054-y. Epub 2005 Oct 21. Pediatr Nephrol. 2006. PMID: 16240161

3

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

He N, Zahirieh A, Mei Y, Lee B, Senthilnathan S, Wong B, Mucha B, Hildebrandt F, Cole DE, Cattran D, Pei Y. He N, et al. Among authors: hildebrandt f. Clin J Am Soc Nephrol. 2007 Jan;2(1):31-7. doi: 10.2215/CJN.02690806. Epub 2006 Oct 25. Clin J Am Soc Nephrol. 2007. PMID: 17699384

4

Nephrocystin-1 interacts directly with Ack1 and is expressed in human collecting duct.

Eley L, Moochhala SH, Simms R, Hildebrandt F, Sayer JA. Eley L, et al. Among authors: hildebrandt f. Biochem Biophys Res Commun. 2008 Jul 11;371(4):877-82. doi: 10.1016/j.bbrc.2008.05.016. Epub 2008 May 12. Biochem Biophys Res Commun. 2008. PMID: 18477472

5

Jouberin localizes to collecting ducts and interacts with nephrocystin-1.

Eley L, Gabrielides C, Adams M, Johnson CA, Hildebrandt F, Sayer JA. Eley L, et al. Among authors: hildebrandt f. Kidney Int. 2008 Nov;74(9):1139-49. doi: 10.1038/ki.2008.377. Epub 2008 Jul 16. Kidney Int. 2008. PMID: 18633336 Free article.

6

Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

Wolf MT, Hoskins BE, Beck BB, Hoppe B, Tasic V, Otto EA, Hildebrandt F. Wolf MT, et al. Among authors: hildebrandt f. Pediatr Nephrol. 2009 Jan;24(1):55-60. doi: 10.1007/s00467-008-1016-6. Epub 2008 Oct 10. Pediatr Nephrol. 2009. PMID: 18846391 Free PMC article.

7

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Zaucke F, et al. Among authors: hildebrandt f. Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18. Hum Mol Genet. 2010. PMID: 20172860 Free PMC article.

8

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: hildebrandt f. 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.

9

Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, and CKD.

Beck BB, Trachtman H, Gitman M, Miller I, Sayer JA, Pannes A, Baasner A, Hildebrandt F, Wolf MT. Beck BB, et al. Among authors: hildebrandt f. Am J Kidney Dis. 2011 Nov;58(5):821-5. doi: 10.1053/j.ajkd.2011.06.029. Epub 2011 Sep 8. Am J Kidney Dis. 2011. PMID: 21903317 Free PMC article.

10

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group. Halbritter J, et al. Among authors: hildebrandt f. Hum Genet. 2013 Aug;132(8):865-84. doi: 10.1007/s00439-013-1297-0. Epub 2013 Apr 5. Hum Genet. 2013. PMID: 23559409 Free PMC article.

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