Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Erratum to: "Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma".
|
28331555 |
2019 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
"Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma".
|
26753011 |
2016 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene.
|
26763876 |
2016 |
Familial Retinoblastoma
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
|
23498719 |
2013 |
Familial Retinoblastoma
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gender-dependent histone deacetylases injury may contribute to differences in liver recovery rates of male and female mice.
|
23498780 |
2013 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Complementary constitutional chromosome and fluorescent in situ hybridization (FISH) analyses of RB1 gene were applied in cases where hereditary retinoblastoma was suspected despite negative detection.
|
16343894 |
2006 |
Familial Retinoblastoma
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hereditary retinoblastoma constitutes a cancer predisposition syndrome: a subject constitutionally carrying an RB1 gene mutation has a greater than 90% risk of developing retinoblastoma but is also at increased risk of developing other types of cancers.Diagnosis is made by fundoscopy.
|
16934146 |
2006 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This paper reports the first clinical experience of preimplantation genetic diagnosis (PGD) for hereditary retinoblastoma using two highly polymorphic microsatellite markers RB1.20 and D13S284, located within and close to the RB1 gene respectively.
|
12569181 |
2003 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that lipoma predisposition in hereditary retinoblastoma is not associated with specific RB1 gene mutations but is influenced by modifying factors linked to this gene.
|
11571558 |
2001 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have performed RB1 gene mutation analysis in 45 patients with hereditary retinoblastoma.
|
10671068 |
1998 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the RB1 gene in patients with hereditary retinoblastoma.
|
8605116 |
1995 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have performed a mutation survey of the RB1 gene in 232 patients with hereditary or non hereditary retinoblastoma.
|
7795591 |
1995 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.
|
7704558 |
1994 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.
|
7927327 |
1994 |
Familial Retinoblastoma
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
By using three independent sets of amplification reactions, which cover 26% of the RB1 gene coding region, we identified RB1 gene deletions in the DNA of peripheral blood cells in 3 out of 24 (12.5%) unrelated patients with hereditary retinoblastoma.
|
1577465 |
1992 |
Familial Retinoblastoma
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|