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RB1 Sequence Variants in Retinoblastoma: Analysis of RB1 Variants in a Database for Correlation with pRB Protein Domains and Clinical Presentation [PDF]
BiomedicinesBackground: Retinoblastoma (RB) is the most common pediatric ocular tumor that occurs due to the biallelic inactivation of the RB1 tumor suppressor gene. RB may be unilateral or bilateral and is hereditary in 50% of cases. An inactivation of the RB1 gene
Nicohol Tovar Martelo, Irene Szijan
doaj +2 more sources
Asia-Pacific Journal of Oncology Nursing, 2017 From 7% to 10% of all retinoblastomas and from 44% to 71% of familial retinoblastomas in developed countries are diagnosed in the neonatal period, usually through pre- or post-natal screening prompted by a positive family history and sometimes ...
Tero T Kivelä, Theodora Hadjistilianou
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Recent Developments in Retinoblastoma
Delhi Journal of Ophthalmology, 2016 Retinoblastoma represents 3% of all childhood cancers, and is the most common intraocular malignancy of childhood. It is fatal if untreated. The management of retinoblastoma has gradually evolved over the past few decades, with an aim to not only ...
Raksha Rao, Santosh G Honavar
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Metabolic Reprogramming in Retinoblastoma Patients: Treatment Naïve Active Retinoblastoma Versus Regressed Tumors Post-Treatment. [PDF]
Invest Ophthalmol Vis SciGulati K +6 more
europepmc +2 more sources
Nature Reviews Disease Primers, 2015 Retinoblastoma is a rare cancer of the infant retina that is diagnosed in approximately 8,000 children each year worldwide. It forms when both retinoblastoma gene (RB1) alleles are mutated in a susceptible retinal cell, probably a cone photoreceptor precursor.
Dimaras, Helen +10 more
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BMJ Open Ophthalmology, 2021 Objective To explore living with heritable retinoblastoma, specifically survivors’ perceived role of regular follow-up at a retinoblastoma survivorship clinic.Methods and analysis Adult survivors of heritable retinoblastoma were recruited from the ...
Stina Lou +7 more
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Revista chilena de pediatría, 1979 Retinoblastoma is a radiosensitive malignancy of neuroblastic origin that primarily affects young children. Its relatively low incidence belies its potential importance in the understanding of tumor biology in general. A case is made for referral of all retinoblastoma patients to centers with retinoblastoma protocols.
Marchevsky, Silvia +4 more
openaire +5 more sources
Incidence and geographic distribution of retinoblastoma in Ethiopia
BMC Ophthalmology, 2023 Introduction Retinoblastoma is the most frequent intraocular malignancy of the eye in children, occurring in early childhood. Based on global estimates, Ethiopia is expected to observe over 200 new retinoblastoma cases per year, however without a cancer ...
Sadik Taju Sherief +7 more
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Sclero-conjunctival ischaemia secondary to intra-arterial chemotherapy for retinoblastoma
American Journal of Ophthalmology Case Reports, 2020 Purpose: Intra-arterial chemotherapy (IAC), delivered directly to the globe via the internal carotid artery is now an established treatment for retinoblastoma.
Lisa McAnena +5 more
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Cell Death and Disease, 2021 Retinoblastoma is a childhood retinal tumour that is the most common primary malignant intraocular tumour. However, it has been challenging to identify the cell types associated with genetic complexity. Here, we performed single-cell RNA sequencing on 14,
Jie Yang +9 more
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