Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations (Q34384174)

1 August 2017

title

Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations (English)

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1 August 2017

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P Concannon

14

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Anne-Lise Børresen-Dale

8

object named as

A L Borresen-Dale

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1 August 2017

M Telatar

1

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1 August 2017

S Teraoka

2

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1 August 2017

Z Wang

3

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1 August 2017

H H Chun

4

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1 August 2017

T Liang

5

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1 August 2017

S Castellvi-Bel

6

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1 August 2017

N Udar

7

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1 August 2017

L Chessa

9

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1 August 2017

E Bernatowska-Matuszkiewicz

10

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1 August 2017

O Porras

11

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1 August 2017

M Watanabe

12

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1 August 2017

A Junker

13

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1 August 2017

R A Gatti

15

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1 August 2017

language of work or name

English

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publication date

1 January 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

62

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1 August 2017

issue

1

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1 August 2017

page(s)

86-97

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

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Ataxia-telangiectasia: founder effect among north African Jews

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Mutations associated with variant phenotypes in ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Genomic organization of the ATM locus involved in ataxia-telangiectasia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Clinical and genetic features of ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Cancer risks in A-T heterozygotes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Breast and other cancers in families with ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Predominance of null mutations in ataxia-telangiectasia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376800

Incidence of cancer in 161 families affected by ataxia-telangiectasia

27 October 2018

1 reference

12 December 2020

Ataxia-telangiectasia in a child with vaccine-associated paralytic poliomyelitis

1 reference

12 December 2020

Genetic Haplotyping of Ataxia-telangiectasia Families Localizes the Major Gene to an ∼ 850 kb Region on Chromosome 11q23.1.

1 reference

12 December 2020

A high-density microsatellite map of the ataxia-telangiectasia locus

1 reference

12 December 2020

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

1 reference

12 December 2020

New mutations in the ataxia telangiectasia gene

1 reference

12 December 2020

ATM mutations in cancer families

1 reference

12 December 2020

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

1 reference

12 December 2020

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia

1 reference

12 December 2020

Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain

1 reference

12 December 2020

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals

1 reference

12 December 2020

Clinical and genetic features of ataxia-telangiectasia

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 haplotyping of ataxia-telangiectasia families localizes the major gene to an ~850 kb region on chromosome 11 q23.1.

1 reference

12 December 2020

Identifiers

DOI

10.1086/301673

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1 August 2017

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1 August 2017

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