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Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama, Kazuhiro; Mizuguchi, Takeshi; Takeshita, Eri; Nakagawa, Eiji; Okazaki, Tetsuya; Nomura, Yoshiko; Iijima, Yoshitaka; Kajiura, Ichiro; Sugai, Kenji; Saito, Takashi; Sasaki, Masayuki; Yuge, Kotaro; Saikusa, Tomoko; Okamoto, Nobuhiko; Takahashi, Satoru; Amamoto, Masano; Tomita, Ichiro; Kumada, Satoko; Anzai, Yuki; Hoshino, Kyoko; Fattal-Valevski, Aviva; Shiroma, Naohide; Ohfu, Masaharu; Moroto, Masaharu; Tanda, Koichi; Nakagawa, Tomoko; Sakakibara, Takafumi; Nabatame, Shin; Matsuo, Muneaki; Yamamoto, Akiko; Yukishita, Shoko; Inoue, Ken; Waga, Chikako; Nakamura, Yoko; Watanabe, Shoko; Ohba, Chihiro; Sengoku, Toru; Fujita, Atsushi; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Ito, Shuichi; Saitsu, Hirotomo; Matsuishi, Toyojiro; Goto, Yu-Ichi; Matsumoto, Naomichi.
Afiliación
  • Iwama K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Mizuguchi T; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Takeshita E; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Nakagawa E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Okazaki T; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nomura Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Iijima Y; Department of Pediatrics, Nippon Medical School Tama-Nagayama Hospital, Tokyo, Japan.
  • Kajiura I; Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan.
  • Sugai K; Division of Pediatrics, Osaka Developmental Rehabilitation Center, Osaka, Japan.
  • Saito T; Division of Pediatrics, Osaka Developmental Rehabilitation Center, Osaka, Japan.
  • Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Yuge K; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Saikusa T; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Okamoto N; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Takahashi S; Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
  • Amamoto M; Deparment of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Tomita I; Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
  • Kumada S; Department of Pediatrics, Kitakyushu Municipal Yahata Hospital, Fukuoka, Japan.
  • Anzai Y; Department of Pediatrics, Kitakyushu Municipal Yahata Hospital, Fukuoka, Japan.
  • Hoshino K; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Fattal-Valevski A; Segawa Memorial Neurological Clinic for Children, Tokyo, Japan.
  • Shiroma N; Segawa Memorial Neurological Clinic for Children, Tokyo, Japan.
  • Ohfu M; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Moroto M; Neurodevelopment Clinic Prop, Okinawa, Japan.
  • Tanda K; Division of Child Neurology, Okinawa Prefectural Nanbu Medical Center and Children's Medical Center, Okinawa, Japan.
  • Nakagawa T; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
  • Sakakibara T; Kyoto Prefectural Chutan-Nishi Public Health Center, Kyoto, Japan.
  • Nabatame S; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
  • Matsuo M; Department of Pediatrics, Nara Medical University, Nara, Japan.
  • Yamamoto A; Department of Pediatrics, Nara Medical University, Nara, Japan.
  • Yukishita S; Department of Pediatrics, Graduate School of Medicine, Osaka University, Osaka, Japan.
  • Inoue K; Department of Pediatrics, Saga University, Faculty of Medicine, Saga, Japan.
  • Waga C; Division of Pediatrics, Tokyo Metropolitan Tobu Medical Center for Persons with Developmental and Multiple Disabilities, Tokyo, Japan.
  • Nakamura Y; Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan.
  • Watanabe S; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Ohba C; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Sengoku T; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Fujita A; Department of Genome Medicine Development, Medical Genome Center (MGC), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Mitsuhashi S; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Miyatake S; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Takata A; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Ogata K; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Ito S; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan.
  • Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Matsuishi T; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Goto YI; Department of Biochemistry, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Matsumoto N; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
J Med Genet ; 56(6): 396-407, 2019 06.
Article en En | MEDLINE | ID: mdl-30842224
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Variación Genética / Síndrome de Rett / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Secuenciación del Exoma Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Variación Genética / Síndrome de Rett / Predisposición Genética a la Enfermedad / Estudios de Asociación Genética / Secuenciación del Exoma Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Japón