Complex SNP-based haplotypes in three human helicases: implications for cancer association studies (Q35805818)

10 August 2017

Complex SNP-based haplotypes in three human helicases: implications for cancer association studies (English)

1 reference

10 August 2017

6

Marek Kimmel

1 reference

10 August 2017

Dimitra Trikka

1

1 reference

10 August 2017

Zhe Fang

2

1 reference

10 August 2017

Alex Renwick

3

1 reference

10 August 2017

Sally H Jones

4

1 reference

10 August 2017

Ranajit Chakraborty

5

1 reference

10 August 2017

David L Nelson

7

1 reference

10 August 2017

1 April 2002

1 reference

10 August 2017

1 reference

10 August 2017

12

1 reference

10 August 2017

4

1 reference

10 August 2017

627-639

1 reference

The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

The power of association studies to detect the contribution of candidate genetic loci to variation in complex traits

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

WRN mutations in Werner syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

The Bloom's syndrome gene product is a 3'-5' DNA helicase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

The Werner syndrome protein is a DNA helicase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Allelic disequilibrium and allele frequency distribution as a function of social and demographic history

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

DnaSP, DNA sequence polymorphism: an interactive program for estimating population genetics parameters from DNA sequence data.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

The future of genetic studies of complex human diseases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Excess of rare cancers in Werner syndrome (adult progeria)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Positional cloning of the Werner's syndrome gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Hereditary cancer: two hits revisited

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Statistical tests of neutrality of mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Bloom syndrome: a mendelian prototype of somatic mutational disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

The Bloom's syndrome gene product is homologous to RecQ helicases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Family analysis of Werner's syndrome: a survey of 42 Japanese families with a review of the literature

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Mutator phenotype of Werner syndrome is characterized by extensive deletions

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Escherichia coli RecQ protein is a DNA helicase

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Gene diversity and estimation of genetic admixture among Mexican-Americans of Starr County, Texas

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Analysis of association at single nucleotide polymorphisms in the APOE region.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

p53 polymorphism and risk of cervical cancer

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Werner syndrome: characterization of mutations in the WRN gene in an affected family.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=187520

Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation

25 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians

1 reference

12 December 2020

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

1 reference

12 December 2020

p53 polymorphism and risk of cervical cancer

1 reference

12 December 2020

Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature

1 reference

12 December 2020

The 1396del A mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer. Mutations in brief no. 136. Online

1 reference

12 December 2020

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin

1 reference

12 December 2020

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.176702

1 reference

10 August 2017

1 reference

10 August 2017

1 reference