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Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami, Hiroaki; Tsurusaki, Yoshinori; Enomoto, Keisuke; Kuroda, Yukiko; Yokoi, Takayuki; Furuya, Noritaka; Yoshihashi, Hiroshi; Minatogawa, Mari; Abe-Hatano, Chihiro; Ohashi, Ikuko; Nishimura, Naoto; Kumaki, Tatsuro; Enomoto, Yumi; Naruto, Takuya; Iwasaki, Fuminori; Harada, Noriaki; Ishikawa, Aki; Kawame, Hiroshi; Sameshima, Kiyoko; Yamaguchi, Yu; Kobayashi, Masahisa; Tominaga, Makiko; Ishikiriyama, Satoshi; Tanaka, Toshiaki; Suzumura, Hiroshi; Ninomiya, Shinsuke; Kondo, Akane; Kaname, Tadashi; Kosaki, Kenjiro; Masuno, Mitsuo; Kuroki, Yoshikazu; Kurosawa, Kenji.
Afiliación
  • Murakami H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tsurusaki Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Enomoto K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Yokoi T; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Furuya N; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Yoshihashi H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Minatogawa M; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Abe-Hatano C; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Ohashi I; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Nishimura N; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Kumaki T; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Iwasaki F; Division of Hematology/Oncology, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Harada N; Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Ishikawa A; Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan.
  • Kawame H; Graduate School of Medicine, Tohoku University, Sendai, Japan.
  • Sameshima K; Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.
  • Yamaguchi Y; Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.
  • Kobayashi M; Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
  • Tominaga M; Children's Medical Center, Northern Yokohama Hospital, Showa University, Yokohama, Japan.
  • Ishikiriyama S; Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Tanaka T; Tanaka Growth Clinic, Tokyo, Japan.
  • Suzumura H; Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
  • Ninomiya S; Department of Clinical Genetics, Kurashiki Central Hospital, Kurashiki, Japan.
  • Kondo A; Department of Gynecology, Shikoku Medical Center for Children and Adults, Kagawa, Japan.
  • Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Masuno M; Genetic Counseling Program, Graduate School of Health and Welfare, Kawasaki University of Medical Welfare, Kurashiki, Japan.
  • Kuroki Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Am J Med Genet A ; 182(10): 2333-2344, 2020 10.
Article en En | MEDLINE | ID: mdl-32803813
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Neoplasias del Cuello Uterino / Predisposición Genética a la Enfermedad / Proteínas de Unión al ADN / Cara / Histona Demetilasas / Enfermedades Hematológicas / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades Vestibulares / Neoplasias del Cuello Uterino / Predisposición Genética a la Enfermedad / Proteínas de Unión al ADN / Cara / Histona Demetilasas / Enfermedades Hematológicas / Proteínas de Neoplasias Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Japón