(Q57200495)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683254%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting (English)

1 reference

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21 January 2020

3

1 reference

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21 January 2020

Nicoline Hoogerbrugge

21

1 reference

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21 January 2020

Robert Hofstra

27

1 reference

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21 January 2020

Marjolijn J L Ligtenberg

26

Marjolijn Ligtenberg

1 reference

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21 January 2020

25

Frans Hogervorst

1 reference

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21 January 2020

Annemarie H van der Hout

1

Annemarie H van der Hout

1 reference

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21 January 2020

Hanne Meijers-Heijboer

19

Hanne Meijers-Heijboer

1 reference

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21 January 2020

18

Jan C Oosterwijk

1 reference

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21 January 2020

Margreet G.E.M. Ausems

20

Margreet G E M Ausems

1 reference

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21 January 2020

author name string

Daniëlle Bodmer

5

1 reference

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21 January 2020

Hennie Brüggenwirth

6

1 reference

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21 January 2020

Pieter van der Vlies

8

1 reference

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21 January 2020

Peter Elfferich

9

1 reference

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21 January 2020

Joan Kromosoeto

12

1 reference

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21 January 2020

Thyrsa Vriesman

15

1 reference

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21 January 2020

Neeltje Arts

16

1 reference

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21 January 2020

Majella Boutmy-de Lange

17

1 reference

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21 January 2020

Senno Verhoef

22

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21 January 2020

Ans M W van den Ouweland

2

1 reference

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21 January 2020

Hans J P Gille

4

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21 January 2020

Inge M Mulder

7

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21 January 2020

Maarten T Huisman

10

1 reference

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21 January 2020

Annelies M ten Berge

11

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21 January 2020

Rumo P M Jansen

13

1 reference

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21 January 2020

Patrick H A van Zon

14

1 reference

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21 January 2020

Dicky J J Halley

23

1 reference

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21 January 2020

Yvonne J Vos

24

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21 January 2020

publication date

1 July 2006

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21 January 2020

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21 January 2020

volume

27

1 reference

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21 January 2020

issue

7

1 reference

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21 January 2020

page(s)

654-666

1 reference

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Killing the messenger: new insights into nonsense-mediated mRNA decay

21 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

A highly accurate, low cost test for BRCA1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

A highly sensitive, fast, and economical technique for mutation analysis in hereditary breast and ovarian cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Proof of "disease causing" mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Characterization of Common BRCA1 and BRCA2 Variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

An improved high throughput heteroduplex mutation detection system for screeningBRCA2 mutations?fluorescent mutation detection (F-MD)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

BRCA2 T2722R is a deleterious allele that causes exon skipping

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Ovarian cancer BRCA1 mutation detection: Protein truncation test (PTT) outperforms single strand conformation polymorphism analysis (SSCP)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

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.20340

7 January 2021

A simple method for identification of point mutations using denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Implications of a novel cryptic splice site in the BRCA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Rapid detection of BRCA1 mutations by the protein truncation test

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

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.20340

7 January 2021

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

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.20340

7 January 2021

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Mutational analyses ofBRCA1 andBRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Inherited breast cancer: an emerging picture

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20340

7 January 2021

Identifiers

DOI

10.1002/HUMU.20340

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16683254%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference