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Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ. Abrera-Abeleda MA, et al. Among authors: nishimura c. J Med Genet. 2006 Jul;43(7):582-9. doi: 10.1136/jmg.2005.038315. Epub 2005 Nov 18. J Med Genet. 2006. PMID: 16299065 Free PMC article.
Allelic variants of complement genes associated with dense deposit disease.
Abrera-Abeleda MA, Nishimura C, Frees K, Jones M, Maga T, Katz LM, Zhang Y, Smith RJ. Abrera-Abeleda MA, et al. Among authors: nishimura c. J Am Soc Nephrol. 2011 Aug;22(8):1551-9. doi: 10.1681/ASN.2010080795. Epub 2011 Jul 22. J Am Soc Nephrol. 2011. PMID: 21784901 Free PMC article.
Causes of alternative pathway dysregulation in dense deposit disease.
Zhang Y, Meyer NC, Wang K, Nishimura C, Frees K, Jones M, Katz LM, Sethi S, Smith RJ. Zhang Y, et al. Among authors: nishimura c. Clin J Am Soc Nephrol. 2012 Feb;7(2):265-74. doi: 10.2215/CJN.07900811. Epub 2012 Jan 5. Clin J Am Soc Nephrol. 2012. PMID: 22223606 Free PMC article.
Genotype-phenotype correlations for SLC26A4-related deafness.
Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. Azaiez H, et al. Hum Genet. 2007 Dec;122(5):451-7. doi: 10.1007/s00439-007-0415-2. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690912 Free PMC article.
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Azaiez H, et al. Among authors: nishimura c. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245029 Free PMC article.
301 results