(Q33676828)

28 July 2017

title

Identification of RB1 germline mutations in Argentinian families with sporadic bilateral retinoblastoma (English)

1 reference

28 July 2017

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bilateral retinoblastoma

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Szijan I

1

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28 July 2017

Lohmann DR

2

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28 July 2017

Parma DL

3

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28 July 2017

Brandt B

4

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28 July 2017

Horsthemke B

5

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28 July 2017

language of work or name

English

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publication date

1 June 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

6

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28 July 2017

page(s)

475-479

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Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

Distinct RB1 gene mutations with low penetrance in hereditary 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=1050489

Mutations in the RB1 gene and their effects on transcription

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

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=1050489

Variable mutations of the RB gene in small-cell lung carcinoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

Characterization of deletions at the retinoblastoma locus in patients with bilateral 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=1050489

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

Identification of a growth suppression domain within the retinoblastoma gene product

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in 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=1050489

Genetics and cytogenetics 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=1050489

Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction 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=1050489

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050489

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=1050489

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=1050489

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing

30 October 2018

1 reference

12 December 2020

Genetics of retinoblastoma

1 reference

12 December 2020

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

1 reference

12 December 2020

Parental origin of mutations of the retinoblastoma gene

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.6.475

1 reference

28 July 2017

1 reference

28 July 2017

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