(Q81766055)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18693280%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs (English)

1 reference

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12 January 2020

author name string

Maaike P G Vreeswijk

1

1 reference

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12 January 2020

Jaennelle N Kraan

2

1 reference

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12 January 2020

Heleen M van der Klift

3

1 reference

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12 January 2020

Geraldine R Vink

4

1 reference

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12 January 2020

Cees J Cornelisse

5

1 reference

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12 January 2020

Juul T Wijnen

6

1 reference

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12 January 2020

Egbert Bakker

7

1 reference

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12 January 2020

Christi J van Asperen

8

1 reference

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12 January 2020

Peter Devilee

9

1 reference

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12 January 2020

publication date

1 January 2009

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12 January 2020

1 reference

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12 January 2020

volume

30

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12 January 2020

issue

1

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12 January 2020

page(s)

107-114

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Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996

12 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

1 reference

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7 January 2021

Characterization of two novel BRCA1 germ-line mutations involving splice donor sites

1 reference

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7 January 2021

RNA analysis of eightBRCA1andBRCA2unclassified variants identified in breast/ovarian cancer families from Spain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

1 reference

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7 January 2021

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Caution Should Be Used When Interpreting Alterations Affecting the Exon 3 of the BRCA2 Gene in Breast/Ovarian Cancer Families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Classification of IVS1-10T-->C as a polymorphism of BRCA1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

The BRCA2 variant 8204G>A is a splicing mutation and results in an in frame deletion of the gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Rapid detection of BRCA1 mutations by the protein truncation test

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

A Biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A→C is a mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

The BRCA2 activation domain associates with and is phosphorylated by a cellular protein kinase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Transcriptional activation functions in BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Automated splicing mutation analysis by information theory

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

The BRCA2 genetic variant IVS7 + 2T-->G is a mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

BRCA1 andBRCA2 genes: Role in hereditary breast and ovarian cancer in Italy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Systematic identification and analysis of exonic splicing silencers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20811

7 January 2021

Identifiers

DOI

10.1002/HUMU.20811

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18693280%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference