(Q45997989)

18 December 2017

title

ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype. (English)

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18 December 2017

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Mahnoush Babaei

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18 December 2017

Midori Mitui

series ordinal

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18 December 2017

Eric R Olson

series ordinal

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18 December 2017

Richard A Gatti

series ordinal

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18 December 2017

language of work or name

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21 April 2005

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18 December 2017

published in

Human Genetics

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18 December 2017

volume

117

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18 December 2017

issue

2-3

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18 December 2017

page(s)

101-106

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18 December 2017

Dominant Negative ATM Mutations in Breast Cancer Families

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1254-7

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-1254-7

Cancer risks in A-T heterozygotes

21 January 2018

1 reference

12 December 2020

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

12 December 2020

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

1 reference

12 December 2020

Ataxia-telangiectasia, an evolving phenotype

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12 December 2020

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

1 reference

12 December 2020

Ataxia-telangiectasia: founder effect among north African Jews

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12 December 2020

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12 December 2020

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

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12 December 2020

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

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12 December 2020

Consanguineous marriage in Iran

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12 December 2020

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

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12 December 2020

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Biallelic mutations in the ATM gene in T-prolymphocytic leukemia

1 reference

12 December 2020

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

1 reference

12 December 2020

Global analysis of ATM polymorphism reveals significant functional constraint

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients

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12 December 2020

Ataxia-telangiectasia: diagnosis and treatment

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Breast and other cancers in families with ataxia-telangiectasia

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12 December 2020

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

1 reference

12 December 2020

Incidence of cancer in 161 families affected by ataxia-telangiectasia

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12 December 2020

Initiating cellular stress responses

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12 December 2020

Atm-deficient mice: a paradigm of ataxia telangiectasia

1 reference

12 December 2020

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

1 reference

12 December 2020

ATM: genome stability, neuronal development, and cancer cross paths

1 reference

12 December 2020

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

1 reference

12 December 2020

Mortality and cancer incidence in 263 patients with ataxia-telangiectasia

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Identical mutation in 55% of the ATM alleles in 11 Norwegian AT families: evidence for a founder effect

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Genetic and cellular features of ataxia telangiectasia

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12 December 2020

ATM heterozygosity and cancer risk

1 reference

12 December 2020

Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

1 reference

12 December 2020

Localization of an ataxia-telangiectasia locus to a 3-cM interval on chromosome 11q23: linkage analysis of 111 families by an international consortium

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations

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12 December 2020

Three dinucleotide repeat polymorphisms at the ataxia-telangiectasia locus

1 reference

12 December 2020

10.1007/S00439-005-1254-7

Identifiers

DOI

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Fatcat

https://api.fatcat.wiki/v0/release/d3nduhqoajcwdbxxxemzpdswty

30 July 2022

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Dimensions Publication ID

1004402425

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Fatcat ID

release_d3nduhqoajcwdbxxxemzpdswty

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Fatcat

https://api.fatcat.wiki/v0/release/d3nduhqoajcwdbxxxemzpdswty

30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/d3nduhqoajcwdbxxxemzpdswty

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30 July 2022