Art

J-GLOBAL ID：201902258152959248   Reference number：19A0174263

Evidence of predisposing epimutation in retinoblastoma

網膜芽細胞腫における素因の証明【JST・京大機械翻訳】

Author (20)： Gelli Elisa (Medical Genetics, University of Siena, Siena, Italy) ,  Pinto Anna Maria (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Somma Serena (Medical Genetics, University of Siena, Siena, Italy) ,  Somma Serena (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Imperatore Valentina (Medical Genetics, University of Siena, Siena, Italy) ,  Cannone Marta G. (Medical Genetics, University of Siena, Siena, Italy) ,  Cannone Marta G. (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Hadjistilianou Theodora (Unit of Ophthalmology and Retinoblastoma Referral Center, Department of Surgery, University of Siena, Policlinico ’Santa Maria alle Scotte’, Siena, Italy) ,  De Francesco Sonia (Unit of Ophthalmology and Retinoblastoma Referral Center, Department of Surgery, University of Siena, Policlinico ’Santa Maria alle Scotte’, Siena, Italy) ,  Galimberti Daniela (Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, Policlinico ’Santa Maria alle Scotte’, Siena, Italy) ,  Curro Aurora (Medical Genetics, University of Siena, Siena, Italy) ,  Curro Aurora (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Bruttini Mirella (Medical Genetics, University of Siena, Siena, Italy) ,  Bruttini Mirella (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Mari Francesca (Medical Genetics, University of Siena, Siena, Italy) ,  Mari Francesca (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Renieri Alessandra (Medical Genetics, University of Siena, Siena, Italy) ,  Renieri Alessandra (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy) ,  Ariani Francesca (Medical Genetics, University of Siena, Siena, Italy) ,  Ariani Francesca (Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy)
Material： Human Mutation
Volume： 40  Issue： 2  Page： 201-206  Publication year： 2019 
JST Material Number： W2601A  ISSN： 1059-7794  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Retinoblastoma (RB), which rep...

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Thesaurus term： variation(biology) ,  promoter(genetics) ,  mother ,  quantitative polymerase chain reaction ,  allele ,  phenotype ,  *glioma of the retina ,  methylation ,  DNA ,  gene silencing ,  mosaic ,  inactivation
Semi thesaurus term： CpGメチル化 ,  プロモーターメチル化 ,  小児期 , 【Automatic Indexing@JST】

Author keywords (5)： epimutation ,  gene silencing ,  mosaicism ,  promoter methylation ,  retinoblastoma

JST classification (1)： Gene expression  (EC02040Q)

Terms in the title (2)： 網膜芽細胞腫 ,  証明