(Q33961119)

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Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

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scholarly article

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Europe PubMed Central

30 July 2017

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments (English)

1 reference

Europe PubMed Central

30 July 2017

1 reference

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Dominique Stoppa-Lyonnet

5

object named as

Dominique Stoppa-Lyonnet

0 references

Federica Casilli

1

object named as

Federica Casilli

1 reference

Europe PubMed Central

30 July 2017

author name string

Zorika Christiana Di Rocco

2

1 reference

Europe PubMed Central

30 July 2017

Sophie Gad

3

1 reference

Europe PubMed Central

30 July 2017

Isabelle Tournier

4

1 reference

Europe PubMed Central

30 July 2017

Thierry Frebourg

6

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Europe PubMed Central

30 July 2017

Mario Tosi

7

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Europe PubMed Central

30 July 2017

publication date

1 September 2002

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Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

20

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Europe PubMed Central

30 July 2017

218-226

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Europe PubMed Central

30 July 2017

3

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Europe PubMed Central

30 July 2017

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

The BRCA1 and 1A1.3B promoters are parallel elements of a genomic duplication at 17q21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Identification of a large rearrangement of the BRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

High frequency of large intragenic deletions in the Fanconi anemia group A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Exon deletions and duplications in BRCA1 detected by semiquantitative PCR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

21 January 2018

Direct genomic multiplex PCR for BRCA1 and application to mutation detection by single-strand conformation and heteroduplex analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

In-frame deletions of BRCA1 may define critical functional domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10108

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.10108

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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