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POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI. Kitano T, et al. Among authors: uehara n. PLoS One. 2017 May 17;12(5):e0177636. doi: 10.1371/journal.pone.0177636. eCollection 2017. PLoS One. 2017. PMID: 28545070 Free PMC article.
Frequency and clinical features of hearing loss caused by STRC deletions.
Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI. Yokota Y, et al. Among authors: uehara n. Sci Rep. 2019 Mar 13;9(1):4408. doi: 10.1038/s41598-019-40586-7. Sci Rep. 2019. PMID: 30867468 Free PMC article.
Prevalence and clinical features of hearing loss caused by EYA4 variants.
Shinagawa J, Moteki H, Nishio SY, Ohyama K, Otsuki K, Iwasaki S, Masuda S, Oshikawa C, Ohta Y, Arai Y, Takahashi M, Sakuma N, Abe S, Sakurai Y, Sakaguchi H, Ishino T, Uehara N, Usami SI. Shinagawa J, et al. Among authors: uehara n. Sci Rep. 2020 Feb 27;10(1):3662. doi: 10.1038/s41598-020-60259-0. Sci Rep. 2020. PMID: 32107406 Free PMC article. Clinical Trial.
Genetic background in late-onset sensorineural hearing loss patients.
Uehara N, Fujita T, Yamashita D, Yokoi J, Katsunuma S, Kakigi A, Nishio SY, Nibu KI, Usami SI. Uehara N, et al. J Hum Genet. 2022 Apr;67(4):223-230. doi: 10.1038/s10038-021-00990-2. Epub 2021 Nov 26. J Hum Genet. 2022. PMID: 34824372 Free PMC article.
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.
Uehara N, Mori M, Tokuzawa Y, Mizuno Y, Tamaru S, Kohda M, Moriyama Y, Nakachi Y, Matoba N, Sakai T, Yamazaki T, Harashima H, Murayama K, Hattori K, Hayashi J, Yamagata T, Fujita Y, Ito M, Tanaka M, Nibu K, Ohtake A, Okazaki Y. Uehara N, et al. Ann Clin Transl Neurol. 2014 May;1(5):361-9. doi: 10.1002/acn3.59. Epub 2014 Apr 28. Ann Clin Transl Neurol. 2014. PMID: 25356405 Free PMC article.
285 results