Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

Molecular studies in a patient with Beckwith–Wiedemann syndrome phenotype who developed two different tumours revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. It is shown, by means of numerous molecular methods, that the absence of maternal contributio...

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Main Authors: Valeria Romanelli, Julián Nevado, Mario F. Fraga, Alejandro Martin Trujillo, M. A. Mori, Luis Carlos Sainz Fernandez, Guiomar Pérez de Nanclares, Víctor Martínez‐Glez, Guillermo Pita, H. Meneses, R Gracia, Sixto García‐Miñaúr, Purificación García de Miguel, Beatriz Lecumberri, José Ignacio Rodrı́guez, Anna González‐Neira, David Monk, Pablo Lapunzina
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Acesso em linha:https://doi.org/10.1136/jmg.2010.081919
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https://doi.org/10.1136/jmg.2010.081919

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