A DGGE system for comprehensive mutation screening ofBRCA1andBRCA2: application in a Dutch cancer clinic setting (Q57200495)

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21 January 2020

title

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

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21 January 2020

3

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21 January 2020

Nicoline Hoogerbrugge

21

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21 January 2020

Robert Hofstra

27

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21 January 2020

Marjolijn J L Ligtenberg

26

object named as

Marjolijn Ligtenberg

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21 January 2020

25

Frans Hogervorst

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21 January 2020

author name string

Daniëlle Bodmer

5

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21 January 2020

Hennie Brüggenwirth

6

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21 January 2020

Pieter van der Vlies

8

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21 January 2020

Peter Elfferich

9

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21 January 2020

Joan Kromosoeto

12

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21 January 2020

Thyrsa Vriesman

15

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21 January 2020

Neeltje Arts

16

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21 January 2020

Majella Boutmy-de Lange

17

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21 January 2020

Senno Verhoef

22

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21 January 2020

Annemarie H van der Hout

1

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21 January 2020

Ans M W van den Ouweland

2

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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

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21 January 2020

Annelies M ten Berge

11

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21 January 2020

Rumo P M Jansen

13

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21 January 2020

Patrick H A van Zon

14

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21 January 2020

Jan C Oosterwijk

18

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21 January 2020

Hanne Meijers-Heijboer

19

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21 January 2020

Margreet G E M Ausems

20

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21 January 2020

Dicky J J Halley

23

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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

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21 January 2020

issue

7

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21 January 2020

page(s)

654-666

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

21 January 2020

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A highly accurate, low cost test for BRCA1 mutations

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

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

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

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Characterization of Common BRCA1 and BRCA2 Variants

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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.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

BRCA2 T2722R is a deleterious allele that causes exon skipping

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Understanding missense mutations in the BRCA1 gene: an evolutionary approach

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

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

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

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

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7 January 2021

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

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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

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7 January 2021

Implications of a novel cryptic splice site in the BRCA1 gene

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7 January 2021

Rapid detection of BRCA1 mutations by the protein truncation test

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7 January 2021

Biallelic inactivation of BRCA2 in Fanconi anemia

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

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

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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20340

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21 January 2020

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