(Q46899510)

26 December 2017

title

Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example (English)

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26 December 2017

author name string

Sylvia De Brakeleer

1

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26 December 2017

Jacques De Grève

2

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26 December 2017

Willy Lissens

3

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26 December 2017

Erik Teugels

4

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26 December 2017

publication date

11 March 2013

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26 December 2017

published in

Human Mutation

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26 December 2017

volume

34

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26 December 2017

issue

5

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26 December 2017

page(s)

785-791

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26 December 2017

Hereditary breast cancer: from bench to bedside.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Mutation analysis in the BRCA2 gene in primary breast cancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Genetic diagnosis of familial breast cancer using clonal sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Genetic predisposition to breast cancer: past, present, and future

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22297

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22297

1 reference

26 December 2017

PubMed ID

23420552

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26 December 2017