Usami S - Search Results

1

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ. Oshima A, et al. Among authors: usami s. Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761. Hum Mutat. 2008. PMID: 18429043 Free PMC article.

2

Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.

Usami S, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ. Usami S, et al. Laryngoscope. 1997 Apr;107(4):483-90. doi: 10.1097/00005537-199704000-00011. Laryngoscope. 1997. PMID: 9111378

3

Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation.

Usami S, Abe S, Tono T, Komune S, Kimberling WJ, Shinkawa H. Usami S, et al. ORL J Otorhinolaryngol Relat Spec. 1998 May-Jun;60(3):164-9. doi: 10.1159/000027590. ORL J Otorhinolaryngol Relat Spec. 1998. PMID: 9579362

4

Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation.

Usami S, Abe S, Shinkawa H, Kimberling WJ. Usami S, et al. J Commun Disord. 1998 Sep-Oct;31(5):423-34; quiz 434-5. doi: 10.1016/s0021-9924(98)00014-8. J Commun Disord. 1998. PMID: 9777488 Review.

5

Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation.

Abe S, Usami S, Shinkawa H, Weston MD, Overbeck LD, Hoover DM, Kenyon JB, Horai S, Kimberling WJ. Abe S, et al. Among authors: usami s. Eur J Hum Genet. 1998 Nov-Dec;6(6):563-9. doi: 10.1038/sj.ejhg.5200239. Eur J Hum Genet. 1998. PMID: 9887373

6

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ. Abe S, et al. Among authors: usami s. Am J Med Genet. 1999 Feb 12;82(4):322-8. Am J Med Genet. 1999. PMID: 10051166

7

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Usami S, et al. Hum Genet. 1999 Feb;104(2):188-92. doi: 10.1007/s004390050933. Hum Genet. 1999. PMID: 10190331

8

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.

Usami S, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling WJ. Usami S, et al. J Hum Genet. 1999;44(4):261-5. doi: 10.1007/s100380050156. J Hum Genet. 1999. PMID: 10429368

9

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Abe S, et al. Among authors: usami s. J Med Genet. 2000 Jan;37(1):41-3. doi: 10.1136/jmg.37.1.41. J Med Genet. 2000. PMID: 10633133 Free PMC article.

10

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ. Weston MD, et al. Among authors: usami s. Am J Hum Genet. 2000 Apr;66(4):1199-210. doi: 10.1086/302855. Epub 2000 Mar 22. Am J Hum Genet. 2000. PMID: 10729113 Free PMC article.

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