Prognostic Information for Known Genetic Carriers of RB1 Pathogenic Variants (Germline and Mosaic).

Reddy, M Ashwin; Butt, Mussa; Hinds, Anne-Marie; Duncan, Catriona; Price, Elizabeth A; Sagoo, Mandeep S; Onadim, Zerrin

Reddy, M Ashwin; Butt, Mussa; Hinds, Anne-Marie; Duncan, Catriona; Price, Elizabeth A; Sagoo, Mandeep S; Onadim, Zerrin.

Afiliación

Reddy MA; Retinoblastoma Service, Royal London Hospital, London, United Kingdom; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London, Institute of Ophthalmology, London, United Kingdom. Electronic address: ashwin.reddy4@nhs.net.
Butt M; Retinoblastoma Service, Royal London Hospital, London, United Kingdom.
Hinds AM; Retinoblastoma Service, Royal London Hospital, London, United Kingdom.
Duncan C; Retinoblastoma Service, Royal London Hospital, London, United Kingdom; Paediatric Oncology Department, Great Ormond Street Hospital, London, United Kingdom.
Price EA; Retinoblastoma Genetic Screening Unit, Royal London Hospital, London, United Kingdom.
Sagoo MS; Retinoblastoma Service, Royal London Hospital, London, United Kingdom; NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital and University College London, Institute of Ophthalmology, London, United Kingdom.
Onadim Z; Retinoblastoma Genetic Screening Unit, Royal London Hospital, London, United Kingdom.

Ophthalmol Retina ; 5(4): 381-387, 2021 04.

Article en En | MEDLINE | ID: mdl-32835838

Asunto(s)

ADN/genética; Neoplasias de la Retina/genética; Proteínas de Unión a Retinoblastoma/genética; Retinoblastoma/genética; Ubiquitina-Proteína Ligasas/genética; Adolescente; Adulto; Niño; Femenino; Estudios de Seguimiento; Células Germinativas/metabolismo; Células Germinativas/patología; Heterocigoto; Humanos; Masculino; Pronóstico; Neoplasias de la Retina/diagnóstico; Neoplasias de la Retina/metabolismo; Retinoblastoma/diagnóstico; Retinoblastoma/metabolismo; Proteínas de Unión a Retinoblastoma/metabolismo; Estudios Retrospectivos; Ubiquitina-Proteína Ligasas/metabolismo; Adulto Joven

Palabras clave

Genetics; Mosaicism; Mutations; Pathogenic variants; Penetrance; Retinoblastoma; Screening

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Retinoblastoma / ADN / Neoplasias de la Retina / Ubiquitina-Proteína Ligasas / Proteínas de Unión a Retinoblastoma Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies Idioma: En Revista: Ophthalmol Retina Año: 2021 Tipo del documento: Article

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