Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium (Q34144298)

31 July 2017

Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium (English)

1 reference

31 July 2017

1 reference

linkage disequilibrium

1 reference

P E Bonnen

1

1 reference

31 July 2017

M D Story

2

1 reference

31 July 2017

C L Ashorn

3

1 reference

31 July 2017

T A Buchholz

4

1 reference

31 July 2017

M M Weil

5

1 reference

31 July 2017

D L Nelson

6

1 reference

31 July 2017

language of work or name

English

0 references

publication date

14 November 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

67

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31 July 2017

6

1 reference

31 July 2017

1437-1451

1 reference

Searching for genetic determinants in the new millennium

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Genetic epidemiology of single-nucleotide polymorphisms.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

ATM: a mediator of multiple responses to genotoxic stress

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Characterization of single-nucleotide polymorphisms in coding regions of human genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Determination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Genetic analysis of atherosclerosis: a research paradigm for the common chronic diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

The future of genetic studies of complex human diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Positional cloning of the Werner's syndrome gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Apolipoprotein E and Alzheimer disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

The detection of linkage disequilibrium in molecular sequence data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Statistical properties of the number of recombination events in the history of a sample of DNA sequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Breast and other cancers in families with ataxia-telangiectasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Cancers in 44 families with ataxia-telangiectasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

The Huntington's disease candidate region exhibits many different haplotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

p53 polymorphism and risk of cervical cancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Role of a p53 polymorphism in the development of human papillomavirus-associated cancer.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Significant impact of the +93 C/T polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but not in Caucasians: confounding effect of linkage disequilibrium

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287921

Prospects for whole-genome linkage disequilibrium mapping of common disease genes

28 October 2018

1 reference

12 December 2020

Neutral sequence variants and haplotypes at the 150 Kb ataxia-telangiectasia locus

1 reference

12 December 2020

A 4-Mb high-density single nucleotide polymorphism-based map around human APOE

1 reference

12 December 2020

Single nucleotide polymorphism and linkage disequilibrium within the TCR alpha/delta locus

1 reference

12 December 2020

Incidence of cancer in 161 families affected by ataxia-telangiectasia

1 reference

12 December 2020

The new genomics: global views of biology

1 reference

12 December 2020

The use of a genetic map of biallelic markers in linkage studies

1 reference

12 December 2020

Variations on a theme: cataloging human DNA sequence variation

1 reference

12 December 2020

Identifiers

DOI

10.1086/316908

1 reference

release_ybtmwrvft5ecjhjpbyog6e7bke

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ybtmwrvft5ecjhjpbyog6e7bke

24 November 2022

mapped directly with Wikidata item

PMCID

1287921

1 reference

31 July 2017

1 reference