(Q34280836)

1 August 2017

title

Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression (English)

1 reference

1 August 2017

Patrick Concannon

6

0 references

author name string

Helen H Chun

1

1 reference

1 August 2017

Xia Sun

2

1 reference

1 August 2017

Shareef A Nahas

3

1 reference

1 August 2017

Sharon Teraoka

4

1 reference

1 August 2017

Chih Hung Lai

5

1 reference

1 August 2017

Richard A Gatti

7

1 reference

1 August 2017

publication date

1 December 2003

1 reference

Molecular Genetics and Metabolism

1 August 2017

published in

1 reference

1 August 2017

volume

80

1 reference

1 August 2017

issue

4

1 reference

1 August 2017

page(s)

437-443

1 reference

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

The inherited basis of human radiosensitivity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Global analysis of ATM polymorphism reveals significant functional constraint

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

Comprehensive scanning of the ATM gene with DOVAM-S.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.09.008

10.1016/J.YMGME.2003.09.008

7 January 2021

Identifiers

DOI

1 reference

1 August 2017

1 reference