Fujiki K - Search Results

1

Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778.

Matsumoto M, Hayasaka S, Hotta Y, Fujiki K, Fujimaki T, Takeda M, Ishida N, Endo S, Kanai A. Matsumoto M, et al. Among authors: fujiki k. J Hum Genet. 1998;43(4):242-5. doi: 10.1007/s100380050081. J Hum Genet. 1998. PMID: 9852675

2

OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484.

Yamada T, Hayasaka S, Matsumoto M, Budu, Esa T, Hayasaka Y, Endo M, Nagaki Y, Fujiki K, Murakami A, Kanai A. Yamada T, et al. Among authors: fujiki k. Jpn J Ophthalmol. 2003 Jul-Aug;47(4):409-11. doi: 10.1016/s0021-5155(03)00056-x. Jpn J Ophthalmol. 2003. PMID: 12842213

3

High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.

Nakamura M, Ara F, Yamada M, Hotta Y, Hayakawa M, Fujiki K, Kanai A, Sakai J, Inoue M, Yamamoto M, et al. Nakamura M, et al. Among authors: fujiki k. Jpn J Ophthalmol. 1992;36(1):56-61. Jpn J Ophthalmol. 1992. PMID: 1635296

4

A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy.

Fujiki K, Hotta Y, Hayakawa M, Saito K, Ara F, Ueda S, Goto T, Ishida M, Yanashima K, Shiono T, et al. Fujiki K, et al. Jinrui Idengaku Zasshi. 1991 Jun;36(2):143-7. doi: 10.1007/BF01876576. Jinrui Idengaku Zasshi. 1991. PMID: 1681125

5

[A trial of molecular diagnosis in Leber's optic neuropathy].

Ara F, Hotta Y, Hayakawa M, Yanashima K, Kanai A, Fujiki K. Ara F, et al. Among authors: fujiki k. Nippon Ganka Gakkai Zasshi. 1991 Aug;95(8):715-20. Nippon Ganka Gakkai Zasshi. 1991. PMID: 1950826 Review. Japanese.

6

Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.

Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, Hiida Y, Shinoda K, Yamada K, Oguchi Y, et al. Hotta Y, et al. Among authors: fujiki k. Jpn J Ophthalmol. 1995;39(1):96-108. Jpn J Ophthalmol. 1995. PMID: 7643491

7

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa.

Fujiki K, Hotta Y, Murakami A, Yoshii M, Hayakawa M, Ichikawa T, Takeda M, Akeo K, Okisaka S, Kanai A. Fujiki K, et al. Jpn J Hum Genet. 1995 Sep;40(3):271-7. doi: 10.1007/BF01876186. Jpn J Hum Genet. 1995. PMID: 8527802

8

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K, Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S, Azuma N. Hotta Y, et al. Among authors: fujiki k. Hum Genet. 1998 Aug;103(2):142-4. doi: 10.1007/pl00008705. Hum Genet. 1998. PMID: 9760195

9

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.

Fujiki K, Hotta Y, Nakayasu K, Yokoyama T, Takano T, Yamaguchi T, Kanai A. Fujiki K, et al. Hum Genet. 1998 Sep;103(3):286-9. doi: 10.1007/s004390050818. Hum Genet. 1998. PMID: 9799082

10

Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.

Matsumoto M, Hayasaka S, Kadoi C, Hotta Y, Fujiki K, Fujimaki T, Takeda M, Ishida N, Endo S, Kanai A. Matsumoto M, et al. Among authors: fujiki k. Ophthalmic Genet. 1999 Sep;20(3):153-60. doi: 10.1076/opge.20.3.153.2281. Ophthalmic Genet. 1999. PMID: 10520236

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