תוצאות חיפוש - Koji M. Nishiguchi

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  1. 1
    Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

    Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population מאת Koji M. Nishiguchi, Carlo Rivolta

    יצא לאור 2012
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  2. 2
    Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

    Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases מאת Koji M. Nishiguchi, Michael A. Sandberg, Nasim Gorji, Eliot L. Berson, Thaddeus P. Dryja

    יצא לאור 2005
    קבל טקסט מלא
    Artigo
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  3. 3
    Transcriptome profiling of the rat retina after optic nerve transection

    Transcriptome profiling of the rat retina after optic nerve transection מאת Masayuki Yasuda, Yuji Tanaka, Kazuko Omodaka, Koji M. Nishiguchi, Orie Nakamura, Satoru Tsuda, Toru Nakazawa

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Classification of fundus autofluorescence images based on macular function in retinitis pigmentosa using convolutional neural networks

    Classification of fundus autofluorescence images based on macular function in retinitis pigmentosa using convolutional neural networks מאת Taro Kominami, Shinji Ueno, Junya Ota, Taiga Inooka, Oda Masahiro, Kensaku Mori, Koji M. Nishiguchi

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  5. 5
    Recessive <i>NRL</i> mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

    Recessive <i>NRL</i> mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function מאת Koji M. Nishiguchi, James S. Friedman, Michael A. Sandberg, Anand Swaroop, Eliot L. Berson, Thaddeus P. Dryja

    יצא לאור 2004
    קבל טקסט מלא
    Artigo
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  6. 6
    Profiles of Extracellular miRNAs in the Aqueous Humor of Glaucoma Patients Assessed with a Microarray System

    Profiles of Extracellular miRNAs in the Aqueous Humor of Glaucoma Patients Assessed with a Microarray System מאת Yuji Tanaka, Satoru Tsuda, Hiroshi Kunikata, Junko Sato, Taiki Kokubun, Masayuki Yasuda, Koji M. Nishiguchi, Toshifumi Inada, Toru Nakazawa

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

    Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis מאת Marta Cortón, Koji M. Nishiguchi, Almudena Ávila‐Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Álvarez, Sorina D. Tatu, Carmen Ayuso, Carlo Rivolta

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    Evaluation of the loading capacity and patterns of packaged DNA in AAV genomes of different sizes using long-read sequencing

    Evaluation of the loading capacity and patterns of packaged DNA in AAV genomes of different sizes using long-read sequencing מאת Masaaki Kosaka, Ai Fujita Sajiki, Kosuke Fujita, Kazuhisa Yamada, Kenichi Kawano, Kiichi Hirazawa, Takayuki Matsuno, Masahiko Takada, Nobuhiro Shimozawa, Kenichi Inoue, Kenya Yuki, Koji M. Nishiguchi

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  9. 9
    The neuroprotective effect of hesperidin in NMDA-induced retinal injury acts by suppressing oxidative stress and excessive calpain activation

    The neuroprotective effect of hesperidin in NMDA-induced retinal injury acts by suppressing oxidative stress and excessive calpain activation מאת Shigeto Maekawa, Kota Sato, Kosuke Fujita, Reiko Daigaku, Hiroshi Tawarayama, Namie Murayama, Satoru Moritoh, Takeshi Yabana, Yukihiro Shiga, Kazuko Omodaka, Kazuichi Maruyama, Koji M. Nishiguchi, Toru Nakazawa

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  10. 10
    Application of Metagenomic Long-Read Sequencing for the Diagnosis of Herpetic Uveitis

    Application of Metagenomic Long-Read Sequencing for the Diagnosis of Herpetic Uveitis מאת Yoshito Koyanagi, Ai Fujita Sajiki, Kenya Yuki, Hiroaki Ushida, Kenichi Kawano, Kosuke Fujita, Hideyuki Shimizu, Daishi Okuda, Masaaki Kosaka, Kazuhisa Yamada, Ayana Suzumura, Shu Kachi, Hiroki Kaneko, Hiroyuki Komatsu, Yoshihiko Usui, Hiroshi Gotô, Koji M. Nishiguchi

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  11. 11
    Phenotypic Distinctions Between <i>EYS</i>- and <i>USH2A</i>-Associated Retinitis Pigmentosa in an Asian Population

    Phenotypic Distinctions Between <i>EYS</i>- and <i>USH2A</i>-Associated Retinitis Pigmentosa in an Asian Population מאת Erik Yeo, Taro Kominami, Tien‐En Tan, L. D. Dhinesh Babu, Ken K. Ong, Weilun Tan, Yasmin Bylstra, Kanika Jain, Rachael W. C. Tang, Saadia Farooqui, Sylvia Kam, Cordelia Chan, Ranjana S. Mathur, Saumya S. Jamuar, Weng Khong Lim, Koji M. Nishiguchi, Beau J. Fenner

    יצא לאור 2025
    קבל טקסט מלא
    Artigo
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  12. 12
    Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and <i>NEK2</i> as a new disease gene

    Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and <i>NEK2</i> as a new disease gene מאת Koji M. Nishiguchi, Richard G. Tearle, Yangfan P. Liu, Edwin C. Oh, Noriko Miyake, Paola Benaglio, Shyana Harper, Hanna Koskiniemi-Kuendig, Giulia Venturini, Dror Sharon, Robert K. Koenekoop, Makoto Nakamura, Mineo Kondo, Shinji Ueno, Tetsuhiro Yasuma, J. Beckmann, Shiro Ikegawa, Naomichi Matsumoto, Hiroko Terasaki, Eliot L. Berson, Nicholas Katsanis, Carlo Rivolta

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  13. 13
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations מאת Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed Al Balwi, Ok-Hwa Kim, Tae‐Joon Cho, Gye‐Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniené, Ikuyo Kou, Masahiro Nakajima, H Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  14. 14
    Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients

    Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients מאת Yoshito Koyanagi, Masato Akiyama, Koji M. Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Kazuko Omodaka, Toshiaki Abe, Shiori Komori, Dan Gao, Toshiaki Hirakata, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh‐Hei Sonoda

    יצא לאור 2019
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  15. 15
    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis מאת Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben‐Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert K. Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez-de-la-Rúa-Franch, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P.M. Cremers, Susanne Roosing

    יצא לאור 2023
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:
  16. 16
    Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

    Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma מאת Yukihiro Shiga, Masato Akiyama, Koji M. Nishiguchi, Kota Sato, Nobuhiro Shimozawa, Atsushi Takahashi, Yukihide Momozawa, Makoto Hirata, Koichi Matsuda, Taiki Yamaji, Motoki Iwasaki, Shoichiro Tsugane, Isao Oze, Haruo Mikami, Mariko Naito, Kenji Wakai, Munemitsu Yoshikawa, Masahiro Miyake, Kenji Yamashiro, Kenji Kashiwagi, Takeshi Iwata, Fumihiko Mabuchi, Mitsuko Takamoto, Mineo Ozaki, Kazuhide Kawase, Makoto Aihara, Makoto Araie, Tetsuya Yamamoto, Yoshiaki Kiuchi, Makoto Nakamura, Yasuhiro Ikeda, Koh‐Hei Sonoda, Tatsuro Ishibashi, Koji Nitta, Aiko Iwase, Shiroaki Shirato, Yoshitaka Oka, Mamoru Satoh, Makoto Sasaki, Nobuo Fuse, Yoichi Suzuki, Ching‐Yu Cheng, Chiea Chuen Khor, Mani Baskaran, Shamira Perera, Tin Aung, Eranga N. Vithana, Jessica N. Cooke Bailey, Jae H. Kang, Louis R. Pasquale, Jonathan L. Haines, Janey L. Wiggs, Kathryn P. Burdon, Puya Gharahkhani, Alex W. Hewitt, David A. Mackey, Stuart MacGregor, Jamie E. Craig, R. Rand Allingham, M.A. Hauser, Adeyinka Ashaye, Donald L. Budenz, Stephan Akafo, Susan Williams, Yoichiro Kamatani, Toru Nakazawa, Michiaki Kubo

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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    שמור ב:

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