(Q24813953)

5 July 2017

1 reference

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database (English)

1 reference

5 July 2017

0 references

0 references

0 references

Javier Alonso

2

1 reference

ORCID Public Data File 2021

author name string

José R Valverde

series ordinal

1

1 reference

5 July 2017

Itziar Palacios

series ordinal

3

1 reference

5 July 2017

Angel Pestaña

series ordinal

4

1 reference

5 July 2017

language of work or name

English

0 references

publication date

4 November 2005

1 reference

5 July 2017

1 reference

5 July 2017

6

1 reference

5 July 2017

53

1 reference

describes a project that uses

5 July 2017

1

0 references

SQL

1 reference

26 June 2022

https://europepmc.org/article/PMC/PMC1298292

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1186/1471-2156-6-53

0 references

cites work

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Mutation and cancer: statistical study of retinoblastoma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Eukaryotic DNA mismatch repair

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Genetic instabilities in human cancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Retinoblastoma: revisiting the model prototype of inherited cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Lifetime risks of common cancers among retinoblastoma survivors

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Origins of spontaneous mutations: specificity and directionality of base-substitution, frameshift, and sequence-substitution mutageneses

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Molecular basis of low-penetrance retinoblastoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Functions of the retinoblastoma protein

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

RB1 gene mutations in retinoblastoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Developmental basis of retinal-specific induction of cancer by RB mutation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Sequence specificity in CpG mutation hotspots

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Cell-specific effects of RB or RB/p107 loss on retinal development implicate an intrinsically death-resistant cell-of-origin in retinoblastoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Human Gene Mutation Database (HGMD): 2003 update.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

A T to C mutation in the polypyrimidine tract of the exon 9 splicing site of the RB1 gene responsible for low penetrance hereditary retinoblastoma

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Second primary tumors in hereditary retinoblastoma: a register-based study, 1945-1997: is there an age effect on radiation-related risk?

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

The role of exon sequences in splice site selection.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1298292

Genetics of retinoblastoma

28 November 2018

1 reference

12 December 2020

A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm

1 reference

12 December 2020

A splicing mutation in RB1 in low penetrance retinoblastoma

1 reference

12 December 2020

Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2156-6-53

1 reference

Dimensions Publication ID

5 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2156-6-53

9 September 2019

1 reference

5 July 2017

1 reference