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Year Number of Results
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Page 1
Ciliopathies.
Hildebrandt F, Benzing T, Katsanis N. Hildebrandt F, et al. N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. N Engl J Med. 2011. PMID: 21506742 Free PMC article. Review.
Nephronophthisis.
Wolf MT, Hildebrandt F. Wolf MT, et al. Pediatr Nephrol. 2011 Feb;26(2):181-94. doi: 10.1007/s00467-010-1585-z. Epub 2010 Jul 22. Pediatr Nephrol. 2011. PMID: 20652329 Free PMC article. Review.
Genetic kidney diseases.
Hildebrandt F. Hildebrandt F. Lancet. 2010 Apr 10;375(9722):1287-95. doi: 10.1016/S0140-6736(10)60236-X. Lancet. 2010. PMID: 20382325 Free PMC article. Review.
Nephronophthisis: disease mechanisms of a ciliopathy.
Hildebrandt F, Attanasio M, Otto E. Hildebrandt F, et al. J Am Soc Nephrol. 2009 Jan;20(1):23-35. doi: 10.1681/ASN.2008050456. Epub 2008 Dec 31. J Am Soc Nephrol. 2009. PMID: 19118152 Free PMC article. Review.
Mechanisms of nephronophthisis and related ciliopathies.
Hurd TW, Hildebrandt F. Hurd TW, et al. Nephron Exp Nephrol. 2011;118(1):e9-14. doi: 10.1159/000320888. Epub 2010 Nov 11. Nephron Exp Nephrol. 2011. PMID: 21071979 Free PMC article. Review.
Mutations in SLC26A1 Cause Nephrolithiasis.
Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Gee HY, et al. Am J Hum Genet. 2016 Jun 2;98(6):1228-1234. doi: 10.1016/j.ajhg.2016.03.026. Epub 2016 May 19. Am J Hum Genet. 2016. PMID: 27210743 Free PMC article.
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. 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.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
33 results