Usami SI - Search Results

1

The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.

Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Among authors: usami si. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.

2

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

3

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

4

A large cohort study of GJB2 mutations in Japanese hearing loss patients.

Tsukada K, Nishio S, Usami S; Deafness Gene Study Consortium. Tsukada K, et al. Clin Genet. 2010 Nov;78(5):464-70. doi: 10.1111/j.1399-0004.2010.01407.x. Clin Genet. 2010. PMID: 20497192

5

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.

Moteki H, Nishio SY, Hashimoto S, Takumi Y, Iwasaki S, Takeichi N, Fukuda S, Usami S. Moteki H, et al. J Hum Genet. 2012 Sep;57(9):587-92. doi: 10.1038/jhg.2012.73. Epub 2012 Jun 21. J Hum Genet. 2012. PMID: 22718023

6

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Miyagawa M, Nishio SY, Usami S; Deafness Gene Study Consortium. Miyagawa M, et al. J Hum Genet. 2014 May;59(5):262-8. doi: 10.1038/jhg.2014.12. Epub 2014 Mar 6. J Hum Genet. 2014. PMID: 24599119 Free PMC article.

7

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.

8

USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.

Moteki H, Yoshimura H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Murata T, Smith RJ, Usami S. Moteki H, et al. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):123S-8S. doi: 10.1177/0003489415574070. Epub 2015 Mar 5. Ann Otol Rhinol Laryngol. 2015. PMID: 25743181 Free PMC article.

9

Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.

Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S. Moteki H, et al. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):177S-83S. doi: 10.1177/0003489415575045. Epub 2015 Mar 18. Ann Otol Rhinol Laryngol. 2015. PMID: 25788561 Free PMC article.

10

Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.

Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S. Sakuma N, et al. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):184S-92S. doi: 10.1177/0003489415575041. Epub 2015 Mar 18. Ann Otol Rhinol Laryngol. 2015. PMID: 25788564 Free PMC article.

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