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ARVO Annual Meeting Abstract July 2018

Genetic analysis and in vivo histology of Meesmann epithelial corneal dystrophy

Tsubasa Nishino; Akira Kobayashi; Natsuko Mori; Hideaki Yokogawa; Toshinori Masaki; Keiko Fujiki; Ai Yanagawa; Akira Murakami; Kazuhisa Sugiyama

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3841.

ARVO Annual Meeting Abstract April 2014

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.

Takuro Fujimaki; Takahide Suzuki; Ai Yanagawa; Eisuke Arai; Keiko Fujiki; Yuko Wada; Akira Murakami

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):3284.

ARVO Annual Meeting Abstract June 2013

NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis

Tomoka Kambe; Takuro Fujimaki; Shuri Kawamorita; Eisuke Arai; Ai Miyazaki; Keiko Fujiki; Fumino Iwata; Chieko Tamura; Akira Murakami

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1312.

ARVO Annual Meeting Abstract June 2013

Genetic and clinical features of FEVR and Norrie disease

Eisuke Arai; Takuro Fujimaki; Ai Miyazaki; Keiko Fujiki; Fumino Iwata; Takenori Inomata; Hiroyuki Kawano; Toshiyuki Yokoyama; Akihisa Okumura; Akira Murakami

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1331.

ARVO Annual Meeting Abstract April 2011

Genetic Analysis of Indonesian Patients with Retinitis Pigmentosa (RP)

Takuro Fujimaki; Arief S. Kartasasmita; Keiko Fujiki; Erwin Iskandar; Iwan Sovani; Akira Murakami

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5393.

ARVO Annual Meeting Abstract April 2010

Mutation Analysis of FZD4, NDP, and LRP5 in Familial Exudative Vitreoretinopathy Patients

T. Fujimaki; A. Miyazaki; N. R. Setyoningrum; K. Fujiki; T. Fujimaki; H. Kawano; F. Iwata; T. Kanbe; T. Hamahata; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):2597.

ARVO Annual Meeting Abstract April 2009

NDP Gene Analysis for Norrie Disease Sibling

T. Fujimaki; A. Miyazaki; K. Fujiki; T. Yokoyama; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):2305.

ARVO Annual Meeting Abstract May 2008

A Case Report of Oculofaciocardiodental Syndrome With Novel BCOR Gene Mutation

T. Fujimaki; T. Yokoyama; H. Kawano; K. Fujiki; M. Ikeda; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):465.

ARVO Annual Meeting Abstract May 2007

A Case of Oculo Dento Digital Dysplasia Syndrome With Novel GJA1 Gene Mutation

T. Fujimaki; M. Himi; K. Fujiki; T. Takizawa; T. Yokoyama; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1326.

ARVO Annual Meeting Abstract May 2005

Ala363Thr Mutation in the Myocilin Gene in Japanese Glaucoma Patients

A. Ohyama; K. Fujiki; K. Kawabata; T. Kimura; T. Fujimaki; A. Murakami; Y. Mashima

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):41.

ARVO Annual Meeting Abstract May 2005

Lactoferrin Gene Mutation in Gelatinous Drop–like Corneal Dystrophy

T. Fujimaki; K. Fujiki; H. Toshida; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):4918.

ARVO Annual Meeting Abstract May 2004

Functional analysis of M1S1 gene causing gelatinous drop–like corneal dystrophy

T. Fujimaki; S. Kimura; K. Fujiki; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):1513.

ARVO Annual Meeting Abstract May 2004

Mutations in Membrane Component, Chromosome 1, Surface Marker 1 (M1S1) gene in Gelatinous Drop–like Corneal Dystrophy

A. Murakami; S. Kimura; K. Fujiki; T. Fujimaki; A. Kanai

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):1514.

Biochemistry and Molecular Biology August 2003

Mutations in the CHST6 Gene in Patients with Macular Corneal Dystrophy: Immunohistochemical Evidence of Heterogeneity

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Nobuko Iida-Hasegawa; Atushi Furuhata; Hiroo Hayatsu; Akira Murakami; Keiko Fujiki; Kiyoo Nakayasu; Atsushi Kanai
TAGS: cornea, genes, hereditary corneal dystrophy, heterogeneity, mutation, antibodies, immunohistochemistry, immunoassay
Invest. Ophthalmol. Vis. Sci.. 2003; 44(8):3272-3277. https://doi.org/10.1167/iovs.02-0910

Cornea August 2003

Mutation Analysis of the Carbohydrate Sulfotransferase Gene in Vietnamese with Macular Corneal Dystrophy

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Nguyen Thanh Ha; Hoang Minh Chau; Le Xuan Cung; Ton Kim Thanh; Keiko Fujiki; Akira Murakami; Yoshimune Hiratsuka; Atsushi Kanai
TAGS: carbohydrates, genes, hereditary corneal dystrophy, mutation analysis, sulfotransferase, vietnamese, mutation, family, cornea, corneal opacity
Invest. Ophthalmol. Vis. Sci.. 2003; 44(8):3310-3316. https://doi.org/10.1167/iovs.03-0031

ARVO Annual Meeting Abstract May 2003

Mutation Screening of Collagen Type VIII Alpha 1 Chain (COL8A1) in Patients With Corneal Endothelial Dystrophy

T. Fujimaki; K. Fujiki; T. Kato; A. Murakami

Invest. Ophthalmol. Vis. Sci.. 2003; 44(13):3868.

ARVO Annual Meeting Abstract December 2002

Identification of Erythrocyte Antigen PBDX Expressed in Human Cornea Epithelial Cells and Keratocytes

T Iwata; N Sanuki; K Fujiki; HN Thanh; A Kanai; S Umeda; T Nishiyama; Y Mashima; Y Tanaka

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):1672.

ARVO Annual Meeting Abstract December 2002

New Type of Lattice Corneal Dystrophy with Characteristic Corneal Opacity and Chronic Iritis

T Yamaguchi; K Fujiki; S Endo; A Yasuda; A Kanai

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):1729.

ARVO Annual Meeting Abstract December 2002

Histopathological Study of Drusen Observed in Cynomolgus Monkey (Macaca fascicularis)

T Nishiyama; S Umeda; MT Suzuki; Y Yoshikawa; A Yasosima; F Iwata; K Fujiki; A Kanai; Y Tanaka; T Iwata

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):2791.

ARVO Annual Meeting Abstract December 2002

Molecular Cloning of ELOVL4 Gene from Cynomolgus Monkey (Macaca Fascicularis)

S Umeda; R Ayyagari; MT Suzuki; Y Yoshikawa; F Iwata; K Fujiki; A Kanai; Y Takada; Y Tanaka; T Iwata

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):2807.

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Genetic analysis and in vivo histology of Meesmann epithelial corneal dystrophy

A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.

NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis

Genetic and clinical features of FEVR and Norrie disease

Genetic Analysis of Indonesian Patients with Retinitis Pigmentosa (RP)

Mutation Analysis of FZD4, NDP, and LRP5 in Familial Exudative Vitreoretinopathy Patients

NDP Gene Analysis for Norrie Disease Sibling

A Case Report of Oculofaciocardiodental Syndrome With Novel BCOR Gene Mutation

A Case of Oculo Dento Digital Dysplasia Syndrome With Novel GJA1 Gene Mutation

Ala363Thr Mutation in the Myocilin Gene in Japanese Glaucoma Patients

Lactoferrin Gene Mutation in Gelatinous Drop–like Corneal Dystrophy

Functional analysis of M1S1 gene causing gelatinous drop–like corneal dystrophy

Mutations in Membrane Component, Chromosome 1, Surface Marker 1 (M1S1) gene in Gelatinous Drop–like Corneal Dystrophy

Mutations in the CHST6 Gene in Patients with Macular Corneal Dystrophy: Immunohistochemical Evidence of Heterogeneity

Mutation Analysis of the Carbohydrate Sulfotransferase Gene in Vietnamese with Macular Corneal Dystrophy

Mutation Screening of Collagen Type VIII Alpha 1 Chain (COL8A1) in Patients With Corneal Endothelial Dystrophy

Identification of Erythrocyte Antigen PBDX Expressed in Human Cornea Epithelial Cells and Keratocytes

New Type of Lattice Corneal Dystrophy with Characteristic Corneal Opacity and Chronic Iritis

Histopathological Study of Drusen Observed in Cynomolgus Monkey (Macaca fascicularis)

Molecular Cloning of ELOVL4 Gene from Cynomolgus Monkey (Macaca Fascicularis)

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