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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
Amitrano, Sara; Marozza, Annabella; Somma, Serena; Imperatore, Valentina; Hadjistilianou, Theodora; De Francesco, Sonia; Toti, Paolo; Galimberti, Daniela; Meloni, Ilaria; Cetta, Francesco; Piu, Pietro; Di Marco, Chiara; Dosa, Laura; Lo Rizzo, Caterina; Carignani, Giulia; Mencarelli, Maria Antonietta; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca.
Afiliação
  • Amitrano S; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Marozza A; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Somma S; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Imperatore V; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Hadjistilianou T; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • De Francesco S; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Toti P; Unit of Ophthalmology, Retinoblastoma Referral Center, Department of Surgery, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Galimberti D; Unit of Ophthalmology, Retinoblastoma Referral Center, Department of Surgery, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Meloni I; Pathology, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Cetta F; Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Piu P; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Di Marco C; IRCCS MultiMedica, Milan, Italy.
  • Dosa L; Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
  • Lo Rizzo C; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Carignani G; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Mencarelli MA; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Mari F; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Renieri A; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Policlinico 'Santa Maria alle Scotte', Siena, Italy.
  • Ariani F; Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Eur J Hum Genet ; 23(11): 1523-30, 2015 Nov.
Article em En | MEDLINE | ID: mdl-25712084

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinoblastoma / Proteína do Retinoblastoma / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinoblastoma / Proteína do Retinoblastoma / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália