Results 161 to 170 of about 145,462 (345)
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes
Scientific Reports, 2016 Retinoblastoma is a rare childhood cancer initiated by RB1 mutation or MYCN amplification, while additional alterations may be required for tumor development. However, the view on single nucleotide variants is very limited.
Irsan E. Kooi +13 more
semanticscholar +1 more source
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Acta Ophthalmologica, EarlyView.Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs +12 more
wiley +1 more source
Genetics and management of retinoblastoma
Journal of Indian Association of Pediatric Surgeons, 2007 Retinoblastoma is the most common intraocular tumor in childhood. In majority of early stage retinoblastoma, the eyeballs as well as vision can be preserved with chemotherapy and local intraocular therapy with laser or photocoagulation.
Bakhshi Sameer, Bakhshi Radhika
doaj
Retinal vascular changes in untreated retinoblastoma. Resemblance to von Hippel-Lindau disease. [PDF]
, 1969 Michael Bedford, P A Macfaul
openalex +1 more source
The molecular landscape of AL amyloidosis
British Journal of Haematology, EarlyView.Within the bone marrow, the clonal plasma cell population exhibits an abnormal expression of non‐coding RNAs, which, in turn, upregulates anti‐apoptotic genes (BCL2, MCL1, BCL2L1), leading to an anti‐apoptotic effect that promotes plasma cell survival.
Tal Zvida‐Bloch +4 more
wiley +1 more source
Retinoblastoma: Symptoms, Pathology, Genetics, and Treatments [PDF]
, 2019 Accounting for 3% of childhood malignancies, retinoblastoma incidence varies worldwide with a higher chance of survival in developed countries typically due to earlier detection. The most common symptom of retinoblastoma is leukocoria, abnormal whitening
Watznauer, Brittany
core +2 more sources
Bone marrow appearances in children suffering from retinoblastoma. [PDF]
, 1968 A. J. Salsbury +2 more
openalex +1 more source
MANAGEMENT OF RETINOBLASTOMA [PDF]
Annals of the New York Academy of Sciences, 1964 Robert M. Ellsworth, Algernon B. Reese
openaire +5 more sources