Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.

Well, Lennart; Döbel, Kimberly; Kluwe, Lan; Bannas, Peter; Farschtschi, Said; Adam, Gerhard; Mautner, Victor-Felix; Salamon, Johannes

Well, Lennart; Döbel, Kimberly; Kluwe, Lan; Bannas, Peter; Farschtschi, Said; Adam, Gerhard; Mautner, Victor-Felix; Salamon, Johannes.

Afiliación

Well L; Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Döbel K; Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kluwe L; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Bannas P; Department of Maxillofacial Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Farschtschi S; Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Adam G; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Mautner VF; Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Salamon J; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

PLoS Genet ; 17(5): e1009517, 2021 05.

Article en En | MEDLINE | ID: mdl-33951044

Asunto(s)

Eliminación de Gen; Genes de Neurofibromatosis 1; Estudios de Asociación Genética; Neurofibromatosis 1/genética; Neurofibromatosis 1/patología; Carga Tumoral/genética; Adolescente; Adulto; Estudios de Casos y Controles; Proliferación Celular; Transformación Celular Neoplásica; Niño; Preescolar; Progresión de la Enfermedad; Femenino; Humanos; Masculino; Persona de Mediana Edad; Neurofibroma Plexiforme/genética; Neurofibroma Plexiforme/patología; Prevalencia; Eliminación de Secuencia; Adulto Joven

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genes de Neurofibromatosis 1 / Neurofibromatosis 1 / Eliminación de Gen / Carga Tumoral / Estudios de Asociación Genética Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Año: 2021 Tipo del documento: Article

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