Evidence of predisposing epimutation in retinoblastoma

Author:

Gelli Elisa1,Pinto Anna Maria2,Somma Serena12,Imperatore Valentina1,Cannone Marta G.12,Hadjistilianou Theodora3,De Francesco Sonia3,Galimberti Daniela4,Currò Aurora12,Bruttini Mirella12,Mari Francesca12,Renieri Alessandra12ORCID,Ariani Francesca12

Affiliation:

1. Medical Genetics; University of Siena; Siena Italy

2. Genetica Medica; Azienda Ospedaliera Universitaria Senese; Siena Italy

3. Unit of Ophthalmology and Retinoblastoma Referral Center; Department of Surgery; University of Siena; Policlinico 'Santa Maria alle Scotte'; Siena Italy

4. Unit of Pediatrics; Department of Maternal; Newborn and Child Health; Azienda Ospedaliera Universitaria Senese; Policlinico 'Santa Maria alle Scotte'; Siena Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Detection of aberrant DNA methylation patterns in the RB1 gene;Anwar;Methods in Molecular Biology,2018

2. Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism;Amitrano;European Journal of Human Genetics,2015

3. Retinoblastoma. Review of the current status;Bishop;Survey of Ophthalmology,1975

4. Germline epimutation in humans;Cropley;Pharmacogenomics,2008

5. Characterization of the human RB1 promoter and of elements involved in transcriptional regulation;Gill;Cell Growth & Differentiation,1994

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