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A high frequency of distinct ATM gene mutations in ataxia-telangiectasia
scientific article published in October 1996
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
title
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
author
Suna Onengut
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
Aslihan Tolun
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
Patrick Concannon
series ordinal
7
object named as
P Concannon
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
author name string
J Wright
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
S Teraoka
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
R A Gatti
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
H D Ochs
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
language of work or name
English
0 references
publication date
1 October 1996
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
volume
59
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
page(s)
839-846
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
cites work
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
Genomic organization of the ATM locus involved in ataxia-telangiectasia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
Cancer risks in A-T heterozygotes
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Nucleotide excision repair syndromes: molecular basis and clinical symptoms
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Human cDNA clones that modify radiomimetic sensitivity of ataxia-telangiectasia (group A) cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Breast and other cancers in families with ataxia-telangiectasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
A derivative of an ataxia-telangiectasia (A-T) cell line with normal radiosensitivity but A-T-like inhibition of DNA synthesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Radioresistant DNA synthesis and human genetic diseases
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
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11 July 2018
Assessment of chronic gamma radiosensitivity as an in vitro assay for heterozygote identification of ataxia-telangiectasia
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
Enhanced radiosensitivity of cultured fibroblasts from ataxia telangiectasia heterozygotes manifested by defective colony-forming ability and reduced DNA repair replication after hypoxic gamma-irradiation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
11 July 2018
Predominance of null mutations in ataxia-telangiectasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
24 September 2018
Absence of linkage to the ataxia telangiectasia locus in familial breast cancer.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
24 September 2018
Linkage analysis of DRD2, a marker linked to the ataxia-telangiectasia gene, in 64 families with premenopausal bilateral breast cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
24 September 2018
The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914811
retrieved
24 September 2018
Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delay
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
TEL1, an S. cerevisiae homolog of the human gene mutated in ataxia telangiectasia, is functionally related to the yeast checkpoint gene MEC1
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Genomic Organization of the ATM gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Breast cancer in women after repeated fluoroscopic examinations of the chest
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Estimation of Breast Doses and Breast Cancer Risk Associated with Repeated Fluoroscopic Chest Examinations of Women with Tuberculosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Incidence of female breast cancer among atomic bomb survivors, Hiroshima and Nagasaki, 1950-1980
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Incidence of cancer in 161 families affected by ataxia-telangiectasia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8808599
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1914811
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
PubMed publication ID
8808599
1 reference
stated in
Europe PubMed Central
PMC publication ID
1914811
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8808599%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 October 2019
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