(Q42616265)

3 November 2017

title

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths (English)

1 reference

3 November 2017

Thilo Dörk

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Laura Eng

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3 November 2017

Gabriela Coutinho

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3 November 2017

Shareef Nahas

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3 November 2017

Gene Yeo

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3 November 2017

Robert Tanouye

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3 November 2017

Mahnoush Babaei

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3 November 2017

Christopher Burge

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3 November 2017

Richard A Gatti

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3 November 2017

language of work or name

1 reference

1 January 2004

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3 November 2017

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3 November 2017

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3 November 2017

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3 November 2017

page(s)

67-76

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

3 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Comprehensive scanning of the ATM gene with DOVAM-S.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Pre-mRNA splicing and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Predominance of null mutations in ataxia-telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

A new type of mutation causes a splicing defect in ATM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Global analysis of ATM polymorphism reveals significant functional constraint

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

NS22: a highly polymorphic complex microsatellite marker within the ATM gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

The phylogeography of Y chromosome binary haplotypes and the origins of modern human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

ATM heterozygosity and cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

Dominant Negative ATM Mutations in Breast Cancer Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

Sequence specificity of aminoglycoside-induced stop condon readthrough: potential implications for treatment of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

Genomic Organization of the ATM gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10295

7 January 2021

Identifiers

DOI

10.1002/HUMU.10295

1 reference

3 November 2017

1 reference