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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: smith jl, smith rj. 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.
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN, Yuan H, Kuehn MH, Murcia CL, Wayne S, Srisailpathy CR, Lowry RB, Knaus R, Van Laer L, Bernier FP, Schwartz S, Lee C, Morton CC, Mullins RF, Ramesh A, Van Camp G, Hageman GS, Woychik RP, Smith RJ. Alagramam KN, et al. Among authors: smith rj. Hum Mol Genet. 2001 Aug 1;10(16):1709-18. doi: 10.1093/hmg/10.16.1709. Hum Mol Genet. 2001. PMID: 11487575
Performance of cochlear implant recipients with GJB2-related deafness.
Green GE, Scott DA, McDonald JM, Teagle HF, Tomblin BJ, Spencer LJ, Woodworth GG, Knutson JF, Gantz BJ, Sheffield VC, Smith RJ. Green GE, et al. Among authors: smith rj. Am J Med Genet. 2002 May 1;109(3):167-70. doi: 10.1002/ajmg.10330. Am J Med Genet. 2002. PMID: 11977173 Free PMC article.
Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.
Chen W, Campbell CA, Green GE, Van Den Bogaert K, Komodikis C, Manolidis LS, Aconomou E, Kyamides Y, Christodoulou K, Faghel C, Giguére CM, Alford RL, Manolidis S, Van Camp G, Smith RJ. Chen W, et al. Among authors: smith rj. J Med Genet. 2002 Jul;39(7):473-7. doi: 10.1136/jmg.39.7.473. J Med Genet. 2002. PMID: 12114476 Free PMC article.
The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population.
Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, Smith RJ, Najmabadi H. Mahdieh N, et al. Among authors: smith rj. Clin Genet. 2004 Jun;65(6):506-8. doi: 10.1111/j.1399-0004.2004.00262.x. Clin Genet. 2004. PMID: 15151513 No abstract available.
GJB2 mutations: passage through Iran.
Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ. Najmabadi H, et al. Among authors: smith rj. Am J Med Genet A. 2005 Mar 1;133A(2):132-7. doi: 10.1002/ajmg.a.30576. Am J Med Genet A. 2005. PMID: 15666300
2,316 results