Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling (Q33757922)

29 July 2017

title

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling (English)

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29 July 2017

0 references

1 reference

Swati Tomar

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29 July 2017

Raman Sethi

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29 July 2017

Gangadhara Sundar

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29 July 2017

Thuan Chong Quah

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29 July 2017

Boon Long Quah

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29 July 2017

Poh San Lai

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29 July 2017

language of work or name

English

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publication date

2 June 2017

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29 July 2017

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29 July 2017

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29 July 2017

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29 July 2017

page(s)

e0178776

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Creative Commons Attribution 4.0 International

29 July 2017

start time

2 June 2017

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

1 reference

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14 July 2018

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14 July 2018

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The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

A simple salting out procedure for extracting DNA from human nucleated cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Mechanism of i(6p) formation in retinoblastoma tumor cells

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

PCR detection of the Tth 111 I RFLP at the RB locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death

14 July 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

Clinical profile, management, and outcome of retinoblastoma in singapore.

21 January 2018

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A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

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

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

Spectrum of RB1 mutations identified in 403 retinoblastoma patients.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

Loss of heterozygosity and mutations are the major mechanisms of RB1 gene inactivation in Chinese with sporadic retinoblastoma.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

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

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene.

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients

21 January 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Spectrum of RB1 mutations in argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma

30 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Loss of RB1 induces non-proliferative retinoma: increasing genomic instability correlates with progression to retinoblastoma

30 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma.

30 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene

30 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Impaired expression and promotor hypermethylation of O6-methylguanine-DNA methyltransferase in retinoblastoma tissues.

30 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Minimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization

30 October 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0178776

21 January 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5456385

Extensive DNA methylation spanning the Rb promoter in retinoblastoma tumors

30 October 2018

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12 December 2020

Spectrum of small length germline mutations in the RB1 gene

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Mutation spectrum of the retinoblastoma gene in osteosarcomas

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Screening for RB1 mutations in tumor tissue using denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification, and loss of heterozygosity analysis

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Genetic screening in patients with Retinoblastoma in Israel

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High resolution SNP array profiling identifies variability in retinoblastoma genome stability

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Genotype-phenotype correlations in hereditary familial retinoblastoma

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12 December 2020

10.1371/JOURNAL.PONE.0178776

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DOI

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29 July 2017

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29 July 2017

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