(Q33986463)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

review article

1 reference

title

Genomic rearrangements in the BRCA1 and BRCA2 genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

author name string

Sylvie Mazoyer

series ordinal

1

1 reference

30 July 2017

1 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

415-422

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

The detection of large deletions or duplications in genomic DNA.

10 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

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.20169

7 January 2021

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.20169

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Absence of rearrangements in the BRCA2 gene in human cancers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Alu repeats and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

DNA array-based method for detection of large rearrangements in the BRCA1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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.20169

7 January 2021

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.20169

7 January 2021

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Exclusion of large deletions and other rearrangements in BRCA1 and BRCA2 in Finnish breast and ovarian cancer families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

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.20169

7 January 2021

Mutation analysis in the BRCA2 gene in primary breast cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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.20169

7 January 2021

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Complex germline rearrangement of BRCA1 associated with breast and ovarian cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

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.20169

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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.20169

7 January 2021

In-frame deletions of BRCA1 may define critical functional domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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.20169

7 January 2021

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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.20169

7 January 2021

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.20169

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

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.20169

7 January 2021

A sporadic breast tumor with a somatically acquired complex genomic rearrangement in BRCA1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

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.20169

7 January 2021

A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20169

7 January 2021

Identifiers

DOI

10.1002/HUMU.20169

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15832305%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference