(Q35881927)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Mutations associated with variant phenotypes in ataxia-telangiectasia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

2

1 reference

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18 October 2019

author name string

C M McConville

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

P J Byrd

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

G M McGuire

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Q Y Yao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

G G Lennox

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

M R Taylor

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

language of work or name

English

0 references

publication date

1 August 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

18 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

page(s)

320-330

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

18 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=1914715

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Leukemia and lymphoma in ataxia telangiectasia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Inherited breast and ovarian cancer.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

A sequence compilation and comparison of exons that are alternatively spliced in neurons

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

A mammalian protein targeted by G1-arresting rapamycin-receptor complex

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome 11q22-q23.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

RAFT1: a mammalian protein that binds to FKBP12 in a rapamycin-dependent fashion and is homologous to yeast TORs

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

The rad3+ gene of Schizosaccharomyces pombe is involved in multiple checkpoint functions and in DNA repair

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Isolation and characterization of the Schizosaccharomyces pombe rad3 gene, involved in the DNA damage and DNA synthesis checkpoints

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Predominance of null mutations in ataxia-telangiectasia

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Zinc potentiates agonist-induced currents at certain splice variants of the NMDA receptor.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

The mei-41 gene of D. melanogaster is a structural and functional homolog of the human ataxia telangiectasia gene

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914715

Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA

24 September 2018

1 reference

12 December 2020

Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donor splice site mutation that causes familial hypercholesterolemia (FHBenevento)

1 reference

12 December 2020

Genomic Organization of the ATM gene

1 reference

12 December 2020

A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK.

1 reference

12 December 2020

A Haplotype Common to Intermediate Radiosensitivity Variants of Ataxia-telangiectasia in the UK.

1 reference

12 December 2020

Genetic and physical mapping of the ataxia-telangiectasia locus on chromosome Ilq22-q23.

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755918%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8755918

1 reference