(Q28763558)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

title

Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

1 reference

10

1 reference

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14 October 2019

author name string

L S Friedman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

C I Szabo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

E A Ostermeyer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

P Dowd

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

L Butler

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

T Park

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

M K Lee

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

E L Goode

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

S E Rowell

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

language of work or name

English

0 references

publication date

1 December 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

14 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

volume

57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

issue

6

1 reference

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14 October 2019

page(s)

1284-1297

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

High-density genetic map of the BRCA1 region of chromosome 17q12-q21

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Identification and preliminary characterization of a protein motif related to the zinc finger

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

BRCA1 mutations in Ashkenazi Jewish women

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Linkage of early-onset familial breast cancer to chromosome 17q21

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Genetic heterogeneity and localization of a familial breast-ovarian cancer gene on chromosome 17q12-q21

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

THRA1 and D17S183 flank an interval of < 4 cM for the breast-ovarian cancer gene (BRCA1) on chromosome 17q21.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

A novel transforming growth factor-beta 1 responsive cytoplasmic trans-acting factor binds selectively to the 3'-untranslated region of mammalian ribonucleotide reductase R2 mRNA: role in message stability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Enhanced stability of interleukin-2 mRNA in MLA 144 cells. Possible role of cytoplasmic AU-rich sequence-binding proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Inherited susceptibility to breast cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Detection and characterization of a 3' untranslated region ribonucleoprotein complex associated with human alpha-globin mRNA stability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Mutation analysis of the BRCA1 gene in ovarian cancers.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Mutations in the RB1 gene and their effects on transcription

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Genetic analysis of breast cancer in the cancer and steroid hormone study

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Slippage synthesis of simple sequence DNA

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

5' untranslated sequences modulate rapid mRNA degradation mediated by 3' AU-rich element in v-/c-fos recombinants

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Interference of nonsense mutations with eukaryotic messenger RNA stability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Inherited breast and ovarian cancer. What are the risks? What are the choices?

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

BRCA1 mutations in primary breast and ovarian carcinomas

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

A somatic BRCA1 mutation in an ovarian tumour

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801403

Rapid detection of BRCA1 mutations by the protein truncation test

27 November 2018

1 reference

12 December 2020

The epidemiology of breast cancer

1 reference

12 December 2020

Familial breast-ovarian cancer locus on chromosome 17q12-q23

1 reference

12 December 2020

Risk factors for breast cancer

1 reference

12 December 2020

Frameshift mutagenesis by eucaryotic DNA polymerases in vitro

1 reference

12 December 2020

mRNA surveillance by the Caenorhabditis elegans smg genes

1 reference

12 December 2020

Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations

1 reference

12 December 2020

Comparative sensitivity of alternative single-strand conformation polymorphism (SSCP) methods

1 reference

12 December 2020

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening

1 reference

12 December 2020

Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon

1 reference

12 December 2020

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

1 reference

12 December 2020

A human BRCA1 gene knockout

1 reference

12 December 2020

Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8533757%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

8533757

1 reference