Usami SI - Search Results

1

Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort.

Sakuma N, Nishio SY, Goto SI, Honkura Y, Oda K, Takeda H, Kobayashi M, Kumakawa K, Iwasaki S, Takahashi M, Ito T, Arai Y, Isono Y, Obara N, Matsunobu T, Okubo K, Usami SI. Sakuma N, et al. Among authors: usami si. Genes (Basel). 2024 Apr 12;15(4):489. doi: 10.3390/genes15040489. Genes (Basel). 2024. PMID: 38674423 Free PMC article.

2

[Necrotizing enterocolitis (familial) in children with interesting clinical courses].

Usami S, Ito T. Usami S, et al. Nihon Daicho Komonbyo Gakkai Zasshi. 1970 Mar;22(4):20-1. Nihon Daicho Komonbyo Gakkai Zasshi. 1970. PMID: 5310676 Japanese. No abstract available.

3

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

4

Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.

Abe S, Usami S, Shinkawa H. Abe S, et al. Ann Otol Rhinol Laryngol. 1997 Dec;106(12):1063-9. doi: 10.1177/000348949710601210. Ann Otol Rhinol Laryngol. 1997. PMID: 9415602

5

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.

6

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. Eur J Hum Genet. 1998 Nov-Dec;6(6):563-9. doi: 10.1038/sj.ejhg.5200239. Eur J Hum Genet. 1998. PMID: 9887373

7

Prevalence of mitochondrial gene mutations among hearing impaired patients.

Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, Iwasaki S, Hoshino T, Ito J, Doi K, Kubo T, Nakagawa T, Komiyama S, Tono T, Komune S. Usami S, et al. J Med Genet. 2000 Jan;37(1):38-40. doi: 10.1136/jmg.37.1.38. J Med Genet. 2000. PMID: 10633132 Free PMC article.

8

Long-term audiological feature in Pendred syndrome caused by PDS mutation.

Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T. Iwasaki S, et al. Arch Otolaryngol Head Neck Surg. 2001 Jun;127(6):705-8. doi: 10.1001/archotol.127.6.705. Arch Otolaryngol Head Neck Surg. 2001. PMID: 11405873

9

Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.

Akita J, Abe S, Shinkawa H, Kimberling WJ, Usami S. Akita J, et al. J Hum Genet. 2001;46(7):355-61. doi: 10.1007/s100380170053. J Hum Genet. 2001. PMID: 11450843

10

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI. Namba A, et al. Among authors: usami si. J Hum Genet. 2001;46(9):518-21. doi: 10.1007/s100380170033. J Hum Genet. 2001. PMID: 11558900

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