Smith RJ - Search Results

1

Soluble c5b-9 as a biomarker for complement activation in atypical hemolytic uremic syndrome.

Bu F, Meyer NC, Zhang Y, Borsa NG, Thomas C, Nester C, Smith RJ. Bu F, et al. Among authors: smith rj. Am J Kidney Dis. 2015 Jun;65(6):968-9. doi: 10.1053/j.ajkd.2015.02.326. Epub 2015 Mar 25. Am J Kidney Dis. 2015. PMID: 25818678 No abstract available.

2

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ. Chang EH, et al. Among authors: smith rj. Hum Mutat. 2004 Jun;23(6):582-9. doi: 10.1002/humu.20048. Hum Mutat. 2004. PMID: 15146463

3

A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.

Zhang Y, Knosp BM, Maconochie M, Friedman RA, Smith RJ. Zhang Y, et al. Among authors: smith rj. J Assoc Res Otolaryngol. 2004 Sep;5(3):295-304. doi: 10.1007/s10162-004-4044-3. Epub 2004 Jun 24. J Assoc Res Otolaryngol. 2004. PMID: 15492887 Free PMC article.

4

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Zhang Y, et al. Among authors: smith rj. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098888 Free PMC article.

5

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJH. Van Laer L, et al. J Hum Genet. 2007;52(6):549-552. doi: 10.1007/s10038-007-0137-2. Epub 2007 Apr 11. J Hum Genet. 2007. PMID: 17427029

6

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H. Meyer NC, et al. Among authors: smith rj. Am J Med Genet A. 2007 Jul 15;143A(14):1623-9. doi: 10.1002/ajmg.a.31718. Am J Med Genet A. 2007. PMID: 17431902

7

Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.

Chen W, Meyer NC, McKenna MJ, Pfister M, McBride DJ Jr, Fukushima K, Thys M, Camp GV, Smith RJ. Chen W, et al. Among authors: smith rj. Clin Genet. 2007 May;71(5):406-14. doi: 10.1111/j.1399-0004.2007.00794.x. Clin Genet. 2007. PMID: 17489845

8

Selective cochlear degeneration in mice lacking the F-box protein, Fbx2, a glycoprotein-specific ubiquitin ligase subunit.

Nelson RF, Glenn KA, Zhang Y, Wen H, Knutson T, Gouvion CM, Robinson BK, Zhou Z, Yang B, Smith RJ, Paulson HL. Nelson RF, et al. Among authors: smith rj. J Neurosci. 2007 May 9;27(19):5163-71. doi: 10.1523/JNEUROSCI.0206-07.2007. J Neurosci. 2007. PMID: 17494702 Free PMC article.

9

Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.

Meyer NC, Nishimura CJ, McMordie S, Smith RJ. Meyer NC, et al. Among authors: smith rj. Clin Genet. 2007 Aug;72(2):130-7. doi: 10.1111/j.1399-0004.2007.00828.x. Clin Genet. 2007. PMID: 17661817

10

Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.

Chan MR, Thomas CP, Torrealba JR, Djamali A, Fernandez LA, Nishimura CJ, Smith RJ, Samaniego MD. Chan MR, et al. Among authors: smith rj. Am J Kidney Dis. 2009 Feb;53(2):321-6. doi: 10.1053/j.ajkd.2008.06.027. Epub 2008 Sep 21. Am J Kidney Dis. 2009. PMID: 18805611 Free PMC article.

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