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Year Number of Results
1977 1
1979 1
1980 6
1982 3
1983 2
1984 3
1985 5
1986 5
1987 9
1988 3
1989 5
1990 2
1992 5
1993 5
1994 7
1995 7
1996 10
1997 6
1998 9
1999 7
2000 8
2001 6
2002 6
2003 4
2004 3
2005 9
2006 7
2007 3
2008 5
2009 9
2010 9
2011 12
2012 13
2013 10
2014 9
2015 9
2016 8
2017 12
2018 10
2019 14
2020 14
2021 7
2022 7
2023 4
2024 10
2025 12

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288 results

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Page 1
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.
Senum SR, Li YSM, Benson KA, Joli G, Olinger E, Lavu S, Madsen CD, Gregory AV, Neatu R, Kline TL, Audrézet MP, Outeda P, Nau CB, Meijer E, Ali H, Steinman TI, Mrug M, Phelan PJ, Watnick TJ, Peters DJM, Ong ACM, Conlon PJ, Perrone RD, Cornec-Le Gall E, Hogan MC, Torres VE, Sayer JA; Genomics England Research Consortium, the HALT PKD, CRISP, DIPAK, ADPKD Modifier, and TAME PKD studies; Harris PC. Senum SR, et al. Among authors: conlon pj. Am J Hum Genet. 2022 Jan 6;109(1):136-156. doi: 10.1016/j.ajhg.2021.11.016. Epub 2021 Dec 9. Am J Hum Genet. 2022. PMID: 34890546 Free PMC article.
Monogenic causes of chronic kidney disease in adults.
Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha CM, Plant WD, Griffin MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, Hildebrandt F. Connaughton DM, et al. Among authors: conlon pj. Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14. Kidney Int. 2019. PMID: 30773290 Free PMC article.
C3 glomerulopathy: clinicopathologic features and predictors of outcome.
Medjeral-Thomas NR, O'Shaughnessy MM, O'Regan JA, Traynor C, Flanagan M, Wong L, Teoh CW, Awan A, Waldron M, Cairns T, O'Kelly P, Dorman AM, Pickering MC, Conlon PJ, Cook HT. Medjeral-Thomas NR, et al. Among authors: conlon pj. Clin J Am Soc Nephrol. 2014 Jan;9(1):46-53. doi: 10.2215/CJN.04700513. Epub 2013 Oct 31. Clin J Am Soc Nephrol. 2014. PMID: 24178974 Free PMC article.
Rare disease gene association discovery in the 100,000 Genomes Project.
Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon PJ, Costa MA, Davidson AE, Dawson SJ, Elhassan EAE, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison HH, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong ACM, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: conlon pj. Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08623-w. Online ahead of print. Nature. 2025. PMID: 40011789
Kidney injury in COVID-19.
Ahmed AR, Ebad CA, Stoneman S, Satti MM, Conlon PJ. Ahmed AR, et al. Among authors: conlon pj. World J Nephrol. 2020 Nov 29;9(2):18-32. doi: 10.5527/wjn.v9.i2.18. World J Nephrol. 2020. PMID: 33312899 Free PMC article. Review.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Among authors: conlon pj. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.
Elhassan EAE, Kmochová T, Benson KA, Fennelly NK, Barešová V, Kidd K, Doyle B, Dorman A, Morrin MM, Kyne NC, Vyleťal P, Hartmannová H, Hodaňová K, Sovová J, Mušálková D, Vrbacká A, Přistoupilová A, Živný J, Svojšová K, Radina M, Stránecký V, Loginov D, Pompach P, Novák P, Vaníčková Z, Hansíková H, Rajnochová-Bloudíčková S, Viklický O, Hůlková H, Cavalleri GL, Hnízda A, Bleyer AJ, Kmoch S, Conlon PJ, Živná M. Elhassan EAE, et al. Among authors: conlon pj. Kidney Int Rep. 2024 Apr 15;9(7):2209-2226. doi: 10.1016/j.ekir.2024.04.031. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081747 Free PMC article.
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 Podocytopathies.
McAnallen SM, Elhassan EAE, Stoneman S, Pinto E Vairo F, Hogan MC, Hoefele J, Clince M, Mekraksakit P, Titan SM, Jorge S, Calado J, Decramer S, Colliou E, Tellier S, Francisco T, Servais A, Cornet J, de Fallois J, Dossier C, Fenoglio R, Renieri A, Pinto AM, Daga S, Loberti L, Fila M, Quintana LF, Becherucci F, Nathalie G, Astrid D, ToryDolan K, Alawi BA, Sweeney C, Riordan M, Stack M, Awan A, Hui NK, McCarthy H, Biros E, Harris T, Kidd K, Haeberle S, Bleyer AJ, Mallett AJ, Sayer JA, Schafer F, Benson KA, McCann E, Conlon PJ. McAnallen SM, et al. Among authors: conlon pj. Nephrol Dial Transplant. 2025 May 19:gfaf086. doi: 10.1093/ndt/gfaf086. Online ahead of print. Nephrol Dial Transplant. 2025. PMID: 40388293
Lymphopoiesis and IL-7.
Widmer MB, Morrissey PJ, Goodwin RG, Grabstein KH, Park LS, Watson JD, Kincade PW, Conlon PJ, Namen AE. Widmer MB, et al. Among authors: conlon pj. Int J Cell Cloning. 1990 Jan;8 Suppl 1:168-70; discussion 171-2. doi: 10.1002/stem.5530080715. Int J Cell Cloning. 1990. PMID: 2182735 Free article. Review.
Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries.
Gimpel C, Fieuws S, Hofstetter J, Pitcher D, Vanmeerbeek L, Haeberle S, Dachy A, Massella L, Seeman T, Ranchin B, Allard L, Bacchetta J, Bayrakci US, Becherucci F, Perez-Beltran V, Besouw M, Bialkevich H, Boyer O, Canpolat N, Chauveau D, Çiçek N, Conlon PJ, Devuyst O, Dossier C, Fila M, Flögelová H, Godron-Dubrasquet A, Gokce I, Nguyen-Tang EG, González-Rodríguez JD, Guffens A, Grandaliano G, Heidet L, Jankauskiene A, Levart TK, Knebelmann B, König JC, La Scola C, Leone VF, Leroy V, Litwin M, Lucchetti L, Lungu AC, Marzuillo P, Mastrangelo A, Miklaszewska M, Montini G, Nobili F, Obrycki L, Papizh S, Paripović A, Paripović D, Peruzzi L, Raes A, Saygili S, Spasojević B, Simon T, Szczepańska M, Trepiccione F, Varda NM, Westland R, Yüksel S, Zaluska-Lesniewska I, Tenebaum J, Mustafa R, Mallett AJ, Guay-Woodford LM, Gale DP, Böckenhauer D, Liebau MC, Schaefer F, Mekahli D; RaDaR ADPKD Rare Disease Group; ERKReg Collaborators; ADPedKD Collaborators. Gimpel C, et al. Among authors: conlon pj. Kidney Int. 2025 Jul;108(1):105-118. doi: 10.1016/j.kint.2025.02.026. Epub 2025 Mar 21. Kidney Int. 2025. PMID: 40122340 Free article.
288 results