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A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
Suzuki, Toshimitsu; Suzuki, Toshifumi; Raveau, Matthieu; Miyake, Noriko; Sudo, Genki; Tsurusaki, Yoshinori; Watanabe, Takaki; Sugaya, Yuki; Tatsukawa, Tetsuya; Mazaki, Emi; Shimohata, Atsushi; Kushima, Itaru; Aleksic, Branko; Shiino, Tomoko; Toyota, Tomoko; Iwayama, Yoshimi; Nakaoka, Kentaro; Ohmori, Iori; Sasaki, Aya; Watanabe, Ken; Hirose, Shinichi; Kaneko, Sunao; Inoue, Yushi; Yoshikawa, Takeo; Ozaki, Norio; Kano, Masanobu; Shimoji, Takeyoshi; Matsumoto, Naomichi; Yamakawa, Kazuhiro.
Afiliación
  • Suzuki T; Department of Neurodevelopmental Disorder Genetics, Institute of Brain Science, Nagoya City University Graduate School of Medical Science, Nagoya, Aichi, 467-8601, Japan.
  • Suzuki T; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Raveau M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Miyake N; Department of Obstetrics and Gynecology, Juntendo University Faculty of Medicine, Tokyo, 113-8421, Japan.
  • Sudo G; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Tsurusaki Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Watanabe T; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Sugaya Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Tatsukawa T; Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Kanagawa, 252-0383, Japan.
  • Mazaki E; Department of Neurophysiology, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
  • Shimohata A; Department of Neurophysiology, Graduate School of Medicine, The University of Tokyo, Tokyo, 113-0033, Japan.
  • Kushima I; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Aleksic B; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Shiino T; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Toyota T; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
  • Iwayama Y; Medical Genomics Center, Nagoya University Hospital, Nagoya, Aichi, 466-8560, Japan.
  • Nakaoka K; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
  • Ohmori I; Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, 466-8550, Japan.
  • Sasaki A; Laboratory for Molecular Psychiatry, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Watanabe K; Laboratory for Molecular Psychiatry, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Hirose S; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Aoi-ku, Shizuoka, 420-8688, Japan.
  • Kaneko S; Department of Special Needs Education, Okayama University Graduate School of Education, Okayama, 700-8530, Japan.
  • Inoue Y; Department of Pathology and Laboratory Medicine, Tokyo Dental College Ichikawa General Hospital, Ichikawa, Chiba, 272-8513, Japan.
  • Yoshikawa T; Section of Bone Function, Department of Bone and Joint Diseases, National Center for Geriatrics and Gerontology (NCGG), Obu, Aichi, 474-8511, Japan.
  • Ozaki N; Department of Pediatrics, School of Medicine and Research Institute for the Molecular Pathomechanisms of Epilepsy, Fukuoka University, Fukuoka, Fukuoka, 814-0180, Japan.
  • Kano M; Department of Neuropsychiatry, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, 036-8562, Japan.
  • Shimoji T; North Tohoku Epilepsy Center, Minato Hospital, Hachinohe, 031-0813, Japan.
  • Matsumoto N; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Aoi-ku, Shizuoka, 420-8688, Japan.
  • Yamakawa K; Laboratory for Molecular Psychiatry, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
Ann Clin Transl Neurol ; 7(7): 1117-1131, 2020 07.
Article en En | MEDLINE | ID: mdl-32530565
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Craneosinostosis / Ubiquitina-Proteína Ligasas / Epilepsia / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Craneosinostosis / Ubiquitina-Proteína Ligasas / Epilepsia / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Ann Clin Transl Neurol Año: 2020 Tipo del documento: Article País de afiliación: Japón