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Rett syndrome

  • Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome
    Michael Sean Carroll, Jan-Marino Ramirez, Debra E Weese-Mayer
    Journal of Medical Genetics Nov 2020, 57 (11) 786-793; DOI: 10.1136/jmedgenet-2019-106601
  • Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
    Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, Eiji Nakagawa, Tetsuya Okazaki, Yoshiko Nomura, Yoshitaka Iijima, Ichiro Kajiura, Kenji Sugai, Takashi Saito, Masayuki Sasaki, Kotaro Yuge, Tomoko Saikusa, Nobuhiko Okamoto, Satoru Takahashi, Masano Amamoto, Ichiro Tomita, Satoko Kumada, Yuki Anzai, Kyoko Hoshino, Aviva Fattal-Valevski, Naohide Shiroma, Masaharu Ohfu, Masaharu Moroto, Koichi Tanda, Tomoko Nakagawa, Takafumi Sakakibara, Shin Nabatame, Muneaki Matsuo, Akiko Yamamoto, Shoko Yukishita, Ken Inoue, Chikako Waga, Yoko Nakamura, Shoko Watanabe, Chihiro Ohba, Toru Sengoku, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Hirotomo Saitsu, Toyojiro Matsuishi, Yu-ichi Goto, Naomichi Matsumoto
    Journal of Medical Genetics Jun 2019, 56 (6) 396-407; DOI: 10.1136/jmedgenet-2018-105775
  • Identification of novel genetic causes of Rett syndrome-like phenotypes
    Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel
    Journal of Medical Genetics Mar 2016, 53 (3) 190-199; DOI: 10.1136/jmedgenet-2015-103568
  • Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
    Vishnu Anand Cuddapah, Rajesh B Pillai, Kiran V Shekar, Jane B Lane, Kathleen J Motil, Steven A Skinner, Daniel Charles Tarquinio, Daniel G Glaze, Gerald McGwin, Walter E Kaufmann, Alan K Percy, Jeffrey L Neul, Michelle L Olsen
    Journal of Medical Genetics Mar 2014, 51 (3) 152-158; DOI: 10.1136/jmedgenet-2013-102113