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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS. Ekici AB, et al. Among authors: antignac c. Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26. Kidney Int. 2014. PMID: 24670410 Free article.
Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schröder CH, Smeets HJ. van der Loop FT, et al. Among authors: antignac c. Kidney Int. 2000 Nov;58(5):1870-5. doi: 10.1111/j.1523-1755.2000.00358.x. Kidney Int. 2000. PMID: 11044206 Free article.
Imaging medullary cystic kidney disease with magnetic resonance.
Meier P, Farres MT, Mougenot B, Jacob L, Le Goas F, Antignac C, Ronco P. Meier P, et al. Among authors: antignac c. Am J Kidney Dis. 2003 Jul;42(1):E5-10. doi: 10.1016/s0272-6386(03)00426-8. Am J Kidney Dis. 2003. PMID: 12830488
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Weber S, et al. Among authors: antignac c. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13. J Am Soc Nephrol. 2006. PMID: 16971658
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. Among authors: antignac c. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
318 results