Akihiro Ohtsuka

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

Akihiro Ohtsuka, Isamu Yuge, Shinobu Kimura et al. · Human Genetics · 2003 · 155 citations

Mendelian Disorder, Genetic Disorder, Frequent Founder Mutation +9

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

Shin‐ichi Usami, Kentaro Takahashi, Isamu Yuge et al. · European Journal of Human Genetics · 2003 · 94 citations

Mendelian Disorder, Vestibular System, Ophthalmology +9

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns

Tomohiro Oguchi, Akihiro Ohtsuka, Shigenari Hashimoto et al. · Journal of Human Genetics · 2005 · 89 citations · Full text

Genetic Disorder, Genetics, Audiology +9

Deafness Due to A1555G Mitochondrial Mutation Without Use of Aminoglycoside

Tatsuo Matsunaga, Hiroshi Kumanomido, Masae Shiroma et al. · The Laryngoscope · 2004 · 37 citations