Meyer N - Search Results

1

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. Azaiez H, et al. Among authors: meyer n. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24729539 Free PMC article.

2

Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ. Kasai N, et al. Among authors: meyer nc. Gene. 2001 Feb 7;264(1):113-22. doi: 10.1016/s0378-1119(00)00594-1. Gene. 2001. PMID: 11245985

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

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ. Chen W, et al. Among authors: meyer nc. J Med Genet. 2005 Oct;42(10):e61. doi: 10.1136/jmg.2005.032615. Epub 2005 Jul 20. J Med Genet. 2005. PMID: 16033917 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. 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: meyer nc. Clin Genet. 2007 May;71(5):406-14. doi: 10.1111/j.1399-0004.2007.00794.x. Clin Genet. 2007. PMID: 17489845

8

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

9

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.

10

Human male infertility caused by mutations in the CATSPER1 channel protein.

Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. Avenarius MR, et al. Am J Hum Genet. 2009 Apr;84(4):505-10. doi: 10.1016/j.ajhg.2009.03.004. Epub 2009 Apr 2. Am J Hum Genet. 2009. PMID: 19344877 Free PMC article.

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