(Q33596814)

28 July 2017

Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastoma (English)

1 reference

28 July 2017

1 reference

familial retinoblastoma

1 reference

genetic carrier screening

inferred from title

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865468

13 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.5.312

13 December 2022

1

Z. Onadim

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865468

13 December 2022

author name string

J. K. Cowell

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865468

13 December 2022

language of work or name

English

0 references

publication date

1 May 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1016848

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865468

https://europepmc.org/articles/PMC1016848?pdf=render

13 December 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865468

https://syndication.highwire.org/content/doi/10.1136/jmg.28.5.312

13 December 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.28.5.312

Journal of Medical Genetics

13 December 2022

published in

1 reference

28 July 2017

28

1 reference

28 July 2017

5

1 reference

28 July 2017

312-316

1 reference

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Second nonocular tumors in retinoblastoma survivors. Are they radiation-induced?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Mutation and cancer: statistical study of retinoblastoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Genetic origin of mutations predisposing to retinoblastoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Human retinoblastoma susceptibility gene: cloning, identification, and sequence.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Second primary neoplasms in patients with retinoblastoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

A chromosomal breakpoint that separates the esterase D and retinoblastoma predisposition loci in a patient with del(13)(q14q31).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Identification of germline and somatic mutations affecting the retinoblastoma gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Chromosome 13 homozygosity in osteosarcoma without retinoblastoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Structural evidence for the authenticity of the human retinoblastoma gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Molecular detection of deletions involving band q14 of chromosome 13 in retinoblastomas

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Structure and partial genomic sequence of the human retinoblastoma susceptibility gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Linkage analysis of families with hereditary retinoblastoma: nonpenetrance of mutation, revealed by combined use of markers within and flanking the RB1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

PCR-based detection of a polymorphic BamHI site in intron 1 of the human retinoblastoma (RB) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Detection of the XbaI RFLP within the retinoblastoma locus by PCR.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Retinoblastoma and Subband Deletion of Chromosome 13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Preferential germline mutation of the paternal allele in retinoblastoma

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016848

Point mutational inactivation of the retinoblastoma antioncogene

30 October 2018

1 reference

12 December 2020

Prediction of the Risk of Hereditary Retinoblastoma, Using DNA Polymorphisms within the Retinoblastoma Gene

1 reference

12 December 2020

Prenatal exclusion of hereditary retinoblastoma

1 reference

12 December 2020

Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D

1 reference

12 December 2020

Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14

1 reference

12 December 2020

Genetics of retinoblastoma

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.5.312

1 reference

28 July 2017

1 reference

28 July 2017

1 reference