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SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
Horita S, Simsek E, Simsek T, Yildirim N, Ishiura H, Nakamura M, Satoh N, Suzuki A, Tsukada H, Mizuno T, Seki G, Tsuji S, Nangaku M. Horita S, et al. Among authors: ishiura h. BMC Med Genet. 2018 Jun 18;19(1):103. doi: 10.1186/s12881-018-0612-y. BMC Med Genet. 2018. PMID: 29914390 Free PMC article.
Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis.
Takahashi Y, Seki N, Ishiura H, Mitsui J, Matsukawa T, Kishino A, Onodera O, Aoki M, Shimozawa N, Murayama S, Itoyama Y, Suzuki Y, Sobue G, Nishizawa M, Goto J, Tsuji S. Takahashi Y, et al. Among authors: ishiura h. Arch Neurol. 2008 Oct;65(10):1326-32. doi: 10.1001/archneur.65.10.1326. Arch Neurol. 2008. PMID: 18852346
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T. Akahori M, et al. Among authors: ishiura h. Am J Hum Genet. 2010 Sep 10;87(3):424-9. doi: 10.1016/j.ajhg.2010.08.009. Am J Hum Genet. 2010. PMID: 20826268 Free PMC article.
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
Maeda MH, Mitsui J, Soong BW, Takahashi Y, Ishiura H, Hayashi S, Shirota Y, Ichikawa Y, Matsumoto H, Arai M, Okamoto T, Miyama S, Shimizu J, Inazawa J, Goto J, Tsuji S. Maeda MH, et al. Among authors: ishiura h. Ann Neurol. 2012 Jan;71(1):84-92. doi: 10.1002/ana.22658. Ann Neurol. 2012. PMID: 22275255
195 results