(Q34384444)

English

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer (English)

1 reference

Europe PubMed Central

1 August 2017

1 reference

based on heuristic

inferred from title

0 references

1 reference

based on heuristic

inferred from title

Douglas F. Easton

9

object named as

D F Easton

1 reference

Europe PubMed Central

1 August 2017

author name string

T Stankovic

1

1 reference

Europe PubMed Central

1 August 2017

A M Kidd

2

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Europe PubMed Central

1 August 2017

A Sutcliffe

3

1 reference

Europe PubMed Central

1 August 2017

G M McGuire

4

1 reference

Europe PubMed Central

1 August 2017

P Robinson

5

1 reference

Europe PubMed Central

1 August 2017

P Weber

6

1 reference

Europe PubMed Central

1 August 2017

T Bedenham

7

1 reference

Europe PubMed Central

1 August 2017

A R Bradwell

8

1 reference

Europe PubMed Central

1 August 2017

G G Lennox

10

1 reference

Europe PubMed Central

1 August 2017

N Haites

11

1 reference

Europe PubMed Central

1 August 2017

P J Byrd

12

1 reference

Europe PubMed Central

1 August 2017

A M Taylor

13

1 reference

Europe PubMed Central

1 August 2017

language of work or name

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publication date

1 February 1998

1 reference

Europe PubMed Central

1 August 2017

American Journal of Human Genetics

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Europe PubMed Central

1 August 2017

62

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Europe PubMed Central

1 August 2017

334-345

1 reference

Europe PubMed Central

1 August 2017

2

1 reference

Europe PubMed Central

1 August 2017

Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Heterozygous ATM mutations do not contribute to early onset of breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Mutations associated with variant phenotypes in ataxia-telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Leukemia and lymphoma in ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Cancer risks in A-T heterozygotes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

The incidence and gene frequency of ataxia-telangiectasia in the United States

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Variant forms of ataxia telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

6 July 2018

Predominance of null mutations in ataxia-telangiectasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376883

27 October 2018

Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of cancer in 161 families affected by ataxia-telangiectasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic Organization of the ATM gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human gene mutation database

1 reference

https://pubmed.ncbi.nlm.nih.gov/9463314

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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0 references

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