Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion. (Q51997121)

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28 December 2019

title

Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletion (English)

1 reference

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28 December 2019

author

Claudio Di Cristofano

6

1 reference

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28 December 2019

Generoso Bevilacqua

8

1 reference

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28 December 2019

Maria Adelaide Caligo

9

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28 December 2019

author name string

Mariella Tancredi

1

1 reference

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28 December 2019

Elisa Sensi

2

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28 December 2019

Giovanna Cipollini

3

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28 December 2019

Paolo Aretini

4

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28 December 2019

Grazia Lombardi

5

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28 December 2019

Silvano Presciuttini

7

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28 December 2019

publication date

1 September 2004

1 reference

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European Journal of Human Genetics

28 December 2019

published in

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28 December 2019

volume

12

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28 December 2019

issue

9

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28 December 2019

page(s)

775-777

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Breast and ovarian cancer

28 December 2019

cites work

1 reference

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Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038/SJ.EJHG.5201223

Application of haplotype pair analysis for the identification of hemizygous loci

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201223

inferred from DOI database lookup

7 January 2021

based on heuristic

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/10.1038/SJ.EJHG.5201223

inferred from DOI database lookup

7 January 2021

based on heuristic

Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

1 reference

https://api.crossref.org/works/10.1038/SJ.EJHG.5201223