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retinitis pigmentosa

  • Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
    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
    Journal of Medical Genetics Oct 2019, 56 (10) 662-670; DOI: 10.1136/jmedgenet-2018-105691
  • Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability
    Yasmin Tatour, Iker Sanchez-Navarro, Elana Chervinsky, Hakon Hakonarson, Haithum Gawi, Saoud Tahsin-Swafiri, Rina Leibu, Maria Isabel Lopez-Molina, Guillermo Fernandez-Sanz, Carmen Ayuso, Tamar Ben-Yosef
    Journal of Medical Genetics Oct 2017, 54 (10) 698-704; DOI: 10.1136/jmedgenet-2017-104632
  • Molecular findings from 537 individuals with inherited retinal disease
    Jamie M Ellingford, Stephanie Barton, Sanjeev Bhaskar, James O'Sullivan, Simon G Williams, Janine A Lamb, Binay Panda, Panagiotis I Sergouniotis, Rachel L Gillespie, Stephen P Daiger, Georgina Hall, Theodora Gale, I Christopher Lloyd, Paul N Bishop, Simon C Ramsden, Graeme C M Black
    Journal of Medical Genetics Nov 2016, 53 (11) 761-767; DOI: 10.1136/jmedgenet-2016-103837
  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel, Linda M Luxon, Andrew R Webster, Maria Bitner-Glindzicz
    Journal of Medical Genetics Jan 2012, 49 (1) 27-36; DOI: 10.1136/jmedgenet-2011-100468