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Copy number variants are a common cause of non-syndromic hearing loss.
Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ. Shearer AE, et al. Among authors: smith rj. Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014. Genome Med. 2014. PMID: 24963352 Free PMC article.
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.
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G. Snoeckx RL, et al. Among authors: smith rj. Am J Hum Genet. 2005 Dec;77(6):945-57. doi: 10.1086/497996. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380907 Free PMC article.
In reference to temporal bone imaging in GJB2 deafness.
Azaiez H, Smith RJ. Azaiez H, et al. Among authors: smith rj. Laryngoscope. 2007 Jun;117(6):1127; author reply 1127-9. doi: 10.1097/MLG.0b013e3180421729. Laryngoscope. 2007. PMID: 17545875 No abstract available.
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. Among authors: smith rj. 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.
2,318 results