|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene.
|
27879208 |
2016 |
|
Retinoblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
It has been demonstrated by previous studies that retinoblastoma is initiated primarily by the inactivation of the retinoblastoma Rb1 gene in retinal cells.
|
27470361 |
2016 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene.
|
27879208 |
2016 |
|
Retinoblastoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Silencing by methylation of the RB1 promoter has been observed in retinoblastoma tumors as a second mutation (M2) and is classified as somatic epimutation.
|
26753011 |
2016 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.
|
27582626 |
2016 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.
|
26787237 |
2016 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.
|
27155049 |
2016 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India.
|
26914665 |
2016 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in the Rb1 gene and expression of stem cell markers have been identified in RB, additional information on RB-specific alterations in signaling pathways and protein expression would be useful for the design of targeted RB therapies.
|
26614428 |
2016 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened the RB1 gene in the DNA isolated from blood or saliva samples of 50 unrelated patients with Rb using the TruSight Cancer panel.
|
27582626 |
2016 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Germline RB1 genetic analysis is important to identify heritable retinoblastoma among unilateral retinoblastoma cases.
|
27382102 |
2016 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
|
26925970 |
2016 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.
|
25424699 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (Rb) is a progressive cancer which mainly occurs in children, and which is caused by different genetic or epigenetic alterations that lead to inactivation of both alleles of the RB1 gene.
|
26063518 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.
|
26539030 |
2015 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
|
26530098 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (Rb) is a childhood tumor (~1 in 20,000 live births) developing in the retina due to mutations in the RB1 gene.
|
25754945 |
2015 |
|
Retinoblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Retinoblastoma is a rare pediatric cancer of the developing retina that initiates with biallelic inactivation of the RB1 gene.
|
25636476 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene.
|
26530098 |
2015 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening in patients with Retinoblastoma in Israel.
|
25754945 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The deletion spanned both SUCLA2 and RB1 gene regions, leading to manifestation of both mitochondrial disease and retinoblastoma.
|
24986829 |
2015 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inactivation of both copies of the RB1 gene is the predominant initiating genetic lesion in retinoblastoma and is rate limiting for tumorigenesis.
|
25621664 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic screening in patients with Retinoblastoma in Israel.
|
25754945 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to identify mutational alterations in the RB1 gene in Pakistani patients with RB.
|
26396485 |
2015 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.
|
25602518 |
2015 |