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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1992 3
1993 3
1994 1
1995 4
1996 6
1998 5
1999 10
2000 2
2001 1
2002 4
2003 9
2004 6
2005 6
2006 6
2007 6
2008 6
2009 5
2010 11
2011 9
2012 7
2013 11
2014 4
2015 3
2016 4
2017 4
2018 8
2019 11
2020 8
2021 11
2022 9
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Search Results

165 results
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Page 1
Autosomal dominant tubulointerstitial kidney disease.
Devuyst O, Olinger E, Weber S, Eckardt KU, Kmoch S, Rampoldi L, Bleyer AJ. Devuyst O, et al. Among authors: bleyer aj. Nat Rev Dis Primers. 2019 Sep 5;5(1):60. doi: 10.1038/s41572-019-0109-9. Nat Rev Dis Primers. 2019. PMID: 31488840 Review.
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A. Dvela-Levitt M, et al. Among authors: bleyer aj. Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002. Cell. 2019. PMID: 31348885 Free article.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes. Eckardt KU, et al. Among authors: bleyer aj. Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4. Kidney Int. 2015. PMID: 25738250 Free article.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: bleyer aj. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.
Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Olinger E, et al. Among authors: bleyer aj sr. Kidney Int. 2020 Sep;98(3):717-731. doi: 10.1016/j.kint.2020.04.038. Epub 2020 May 22. Kidney Int. 2020. PMID: 32450155 Free article.
Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1.
Bleyer AJ, Živná M, Kidd K, Kmoch S. Bleyer AJ, et al. 2013 Aug 15 [updated 2021 Oct 21]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2013 Aug 15 [updated 2021 Oct 21]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 23946964 Free Books & Documents. Review.
Uromodulin-associated kidney disease.
Bleyer AJ, Zivná M, Kmoch S. Bleyer AJ, et al. Nephron Clin Pract. 2011;118(1):c31-6. doi: 10.1159/000320889. Epub 2010 Nov 11. Nephron Clin Pract. 2011. PMID: 21071970 Review.
Autosomal Dominant Tubulointerstitial Kidney Disease – REN.
Živná M, Kidd K, Kmoch S, Bleyer AJ. Živná M, et al. Among authors: bleyer aj. 2011 Apr 5 [updated 2020 Dec 10]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2011 Apr 5 [updated 2020 Dec 10]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 21473025 Free Books & Documents. Review.
Autosomal Dominant Tubulointerstitial Kidney Disease.
Bleyer AJ, Kidd K, Živná M, Kmoch S. Bleyer AJ, et al. Adv Chronic Kidney Dis. 2017 Mar;24(2):86-93. doi: 10.1053/j.ackd.2016.11.012. Adv Chronic Kidney Dis. 2017. PMID: 28284384 Free PMC article. Review.
Gout: a step forward.
Bleyer AJ, Kmoch S. Bleyer AJ, et al. Adv Chronic Kidney Dis. 2012 Nov;19(6):356-7. doi: 10.1053/j.ackd.2012.07.013. Adv Chronic Kidney Dis. 2012. PMID: 23089269 No abstract available.
165 results