Smith RJH - Search Results

1

Factor H Autoantibodies and Complement-Mediated Diseases.

Zhang Y, Ghiringhelli Borsa N, Shao D, Dopler A, Jones MB, Meyer NC, Pitcher GR, Taylor AO, Nester CM, Schmidt CQ, Smith RJH. Zhang Y, et al. Among authors: smith rjh. Front Immunol. 2020 Dec 15;11:607211. doi: 10.3389/fimmu.2020.607211. eCollection 2020. Front Immunol. 2020. PMID: 33384694 Free PMC article.

2

Reflex laryngospasm induced by stimulation of distal esophageal afferents.

Bauman NM, Sandler AD, Schmidt C, Maher JW, Smith RJ. Bauman NM, et al. Laryngoscope. 1994 Feb;104(2):209-14. doi: 10.1288/00005537-199402000-00015. Laryngoscope. 1994. PMID: 8302126

3

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. Hum Mutat. 2004 Jun;23(6):582-9. doi: 10.1002/humu.20048. Hum Mutat. 2004. PMID: 15146463

4

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. 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.

5

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. 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.

6

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. Among authors: smith rjh. 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

7

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. 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

8

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. Clin Genet. 2007 May;71(5):406-14. doi: 10.1111/j.1399-0004.2007.00794.x. Clin Genet. 2007. PMID: 17489845

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. Clin Genet. 2007 Aug;72(2):130-7. doi: 10.1111/j.1399-0004.2007.00828.x. Clin Genet. 2007. PMID: 17661817

10

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H. Shearer AE, et al. Laryngoscope. 2009 Apr;119(4):727-33. doi: 10.1002/lary.20116. Laryngoscope. 2009. PMID: 19274735 Free PMC article.

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