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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: mrug m. 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.
Potentially modifiable factors affecting the progression of autosomal dominant polycystic kidney disease.
Torres VE, Grantham JJ, Chapman AB, Mrug M, Bae KT, King BF Jr, Wetzel LH, Martin D, Lockhart ME, Bennett WM, Moxey-Mims M, Abebe KZ, Lin Y, Bost JE; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP). Torres VE, et al. Among authors: mrug m. Clin J Am Soc Nephrol. 2011 Mar;6(3):640-7. doi: 10.2215/CJN.03250410. Epub 2010 Nov 18. Clin J Am Soc Nephrol. 2011. PMID: 21088290 Free PMC article.
Relationship of copeptin, a surrogate marker for arginine vasopressin, with change in total kidney volume and GFR decline in autosomal dominant polycystic kidney disease: results from the CRISP cohort.
Boertien WE, Meijer E, Li J, Bost JE, Struck J, Flessner MF, Gansevoort RT, Torres VE; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease CRISP. Boertien WE, et al. Am J Kidney Dis. 2013 Mar;61(3):420-9. doi: 10.1053/j.ajkd.2012.08.038. Epub 2012 Oct 22. Am J Kidney Dis. 2013. PMID: 23089511 Free PMC article.
Segmentation of individual renal cysts from MR images in patients with autosomal dominant polycystic kidney disease.
Bae K, Park B, Sun H, Wang J, Tao C, Chapman AB, Torres VE, Grantham JJ, Mrug M, Bennett WM, Flessner MF, Landsittel DP, Bae KT; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP). Bae K, et al. Among authors: mrug m. Clin J Am Soc Nephrol. 2013 Jul;8(7):1089-97. doi: 10.2215/CJN.10561012. Epub 2013 Mar 21. Clin J Am Soc Nephrol. 2013. PMID: 23520042 Free PMC article.
Novel approach to estimate kidney and cyst volumes using mid-slice magnetic resonance images in polycystic kidney disease.
Bae KT, Tao C, Wang J, Kaya D, Wu Z, Bae JT, Chapman AB, Torres VE, Grantham JJ, Mrug M, Bennett WM, Flessner MF, Landsittel DP; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP). Bae KT, et al. Among authors: mrug m. Am J Nephrol. 2013;38(4):333-41. doi: 10.1159/000355375. Epub 2013 Oct 5. Am J Nephrol. 2013. PMID: 24107679 Free PMC article. Clinical Trial.
Novel methodology to evaluate renal cysts in polycystic kidney disease.
Bae KT, Sun H, Lee JG, Bae K, Wang J, Tao C, Chapman AB, Torres VE, Grantham JJ, Mrug M, Bennett WM, Flessner MF, Landsittel DP; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease. Bae KT, et al. Among authors: mrug m. Am J Nephrol. 2014;39(3):210-7. doi: 10.1159/000358604. Epub 2014 Feb 22. Am J Nephrol. 2014. PMID: 24576800 Free PMC article. Clinical Trial.
Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials.
Irazabal MV, Rangel LJ, Bergstralh EJ, Osborn SL, Harmon AJ, Sundsbak JL, Bae KT, Chapman AB, Grantham JJ, Mrug M, Hogan MC, El-Zoghby ZM, Harris PC, Erickson BJ, King BF, Torres VE; CRISP Investigators. Irazabal MV, et al. Among authors: mrug m. J Am Soc Nephrol. 2015 Jan;26(1):160-72. doi: 10.1681/ASN.2013101138. Epub 2014 Jun 5. J Am Soc Nephrol. 2015. PMID: 24904092 Free PMC article.
97 results