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SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi, Satoshi; Amano, Naoko; Ishii, Tomohiro; Katsumata, Noriyuki; Muroya, Koji; Adachi, Masanori; Toyoshima, Katsuaki; Tanaka, Yukichi; Fukuzawa, Ryuji; Miyako, Kenichi; Kinjo, Saori; Ohga, Shouichi; Ihara, Kenji; Inoue, Hirosuke; Kinjo, Tadamune; Hara, Toshiro; Kohno, Miyuki; Yamada, Shiro; Urano, Hironaka; Kitagawa, Yosuke; Tsugawa, Koji; Higa, Asumi; Miyawaki, Masakazu; Okutani, Takahiro; Kizaki, Zenro; Hamada, Hiroyuki; Kihara, Minako; Shiga, Kentaro; Yamaguchi, Tetsuya; Kenmochi, Manabu; Kitajima, Hiroyuki; Fukami, Maki; Shimizu, Atsushi; Kudoh, Jun; Shibata, Shinsuke; Okano, Hideyuki; Miyake, Noriko; Matsumoto, Naomichi; Hasegawa, Tomonobu.
Afiliação
  • Narumi S; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Amano N; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Ishii T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Katsumata N; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Muroya K; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Adachi M; Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Toyoshima K; Department of Neonatology, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tanaka Y; Division of Pathology, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Fukuzawa R; Department of Pathology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Miyako K; Department of Endocrinology and Metabolism, Fukuoka Children's Hospital and Medical Center for Infectious Diseases, Fukuoka, Japan.
  • Kinjo S; Division of Pediatrics, Okinawa Prefectural Chubu Hospital, Okinawa, Japan.
  • Ohga S; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Ihara K; Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Inoue H; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Kinjo T; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Hara T; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Kohno M; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
  • Yamada S; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Urano H; Department of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
  • Kitagawa Y; Division of Neonatology, Gunma Children's Medical Center, Gunma, Japan.
  • Tsugawa K; Department of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan.
  • Higa A; Department of Pediatrics, Ohdate Municipal Hospital, Ohdate, Japan.
  • Miyawaki M; Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
  • Okutani T; Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
  • Kizaki Z; Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
  • Hamada H; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
  • Kihara M; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
  • Shiga K; Department of Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan.
  • Yamaguchi T; Department of Pediatrics, Children's Medical Center, Yokohama City University Medical Center, Yokohama, Japan.
  • Kenmochi M; Department of Pediatrics, Children's Medical Center, Yokohama City University Medical Center, Yokohama, Japan.
  • Kitajima H; Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan.
  • Fukami M; Department of Neonatal Medicine, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • Shimizu A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kudoh J; Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan.
  • Shibata S; Laboratory of Gene Medicine, Keio University School of Medicine, Tokyo, Japan.
  • Okano H; Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
  • Miyake N; Electron Microscope Laboratory, Keio University School of Medicine, Tokyo, Japan.
  • Matsumoto N; Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
  • Hasegawa T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Nat Genet ; 48(7): 792-7, 2016 07.
Article em En | MEDLINE | ID: mdl-27182967
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Cromossomos Humanos Par 7 / Proteínas / Insuficiência Adrenal / Transtornos do Crescimento / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Cromossomos Humanos Par 7 / Proteínas / Insuficiência Adrenal / Transtornos do Crescimento / Mutação Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Ano de publicação: 2016 Tipo de documento: Article