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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: hogan mc. 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.
Characterization of PKD protein-positive exosome-like vesicles.
Hogan MC, Manganelli L, Woollard JR, Masyuk AI, Masyuk TV, Tammachote R, Huang BQ, Leontovich AA, Beito TG, Madden BJ, Charlesworth MC, Torres VE, LaRusso NF, Harris PC, Ward CJ. Hogan MC, et al. J Am Soc Nephrol. 2009 Feb;20(2):278-88. doi: 10.1681/ASN.2008060564. Epub 2009 Jan 21. J Am Soc Nephrol. 2009. PMID: 19158352 Free PMC article.
The HALT polycystic kidney disease trials: design and implementation.
Chapman AB, Torres VE, Perrone RD, Steinman TI, Bae KT, Miller JP, Miskulin DC, Rahbari Oskoui F, Masoumi A, Hogan MC, Winklhofer FT, Braun W, Thompson PA, Meyers CM, Kelleher C, Schrier RW. Chapman AB, et al. Among authors: hogan mc. Clin J Am Soc Nephrol. 2010 Jan;5(1):102-9. doi: 10.2215/CJN.04310709. Clin J Am Soc Nephrol. 2010. PMID: 20089507 Free PMC article.
A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.
Mohney BG, Pulido JS, Lindor NM, Hogan MC, Consugar MB, Peters J, Pankratz VS, Nasr SH, Smith SJ, Gloor J, Kubly V, Spencer D, Nielson R, Puffenberger EG, Strauss KA, Morton DH, Eldahdah L, Harris PC. Mohney BG, et al. Among authors: hogan mc. Ophthalmology. 2011 Jun;118(6):1137-44. doi: 10.1016/j.ophtha.2010.10.009. Epub 2011 Jan 13. Ophthalmology. 2011. PMID: 21236492 Free PMC article.
Germline PKHD1 mutations are protective against colorectal cancer.
Ward CJ, Wu Y, Johnson RA, Woollard JR, Bergstralh EJ, Cicek MS, Bakeberg J, Rossetti S, Heyer CM, Petersen GM, Lindor NM, Thibodeau SN, Harris PC, Torres VE, Hogan MC, Boardman LA. Ward CJ, et al. Among authors: hogan mc. Hum Genet. 2011 Mar;129(3):345-9. doi: 10.1007/s00439-011-0950-8. Epub 2011 Jan 28. Hum Genet. 2011. PMID: 21274727 Free PMC article.
250 results