(Q37593006)

21 August 2017

Pattern of sequence variation across 213 environmental response genes (English)

1 reference

21 August 2017

4

Dana C Crawford

1 reference

21 August 2017

8

Bruce J Aronow

1 reference

21 August 2017

10

Deborah A Nickerson

1 reference

21 August 2017

Robert J Livingston

1

1 reference

21 August 2017

Andrew von Niederhausern

2

1 reference

21 August 2017

Anil G Jegga

3

1 reference

21 August 2017

Christopher S Carlson

5

1 reference

21 August 2017

Mark J Rieder

6

1 reference

21 August 2017

Sivakumar Gowrisankar

7

1 reference

21 August 2017

Robert B Weiss

9

1 reference

21 August 2017

13 September 2004

1 reference

21 August 2017

1 reference

21 August 2017

14

1 reference

21 August 2017

10A

1 reference

21 August 2017

1821-1831

1 reference

A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

The International HapMap Project

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

The Pfam protein families database

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

A comparison of bayesian methods for haplotype reconstruction from population genotype data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Haplotype blocks and linkage disequilibrium in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

SIFT: Predicting amino acid changes that affect protein function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Detection and visualization of compositionally similar cis-regulatory element clusters in orthologous and coordinately controlled genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Human non-synonymous SNPs: server and survey

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

GSTZ1d: a new allele of glutathione transferase zeta and maleylacetoacetate isomerase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Haplotype variation and linkage disequilibrium in 313 human genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Linkage disequilibrium in the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Initial sequencing and analysis of the human genome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Prediction of deleterious human alleles

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Two novel human and mouse DNA polymerases of the polX family

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

DNA polymerase lambda (Pol lambda), a novel eukaryotic DNA polymerase with a potential role in meiosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Analysis of expressed sequence tags indicates 35,000 human genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

TRANSFAC: an integrated system for gene expression regulation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Gene mapping in isolated populations: new roles for old friends?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Loss of heterozygosity and lack of mutations of the XPG/ERCC5 DNA repair gene at 13q33 in prostate cancer.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

A DNA polymorphism discovery resource for research on human genetic variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Identification of seven novel mutations associated with metachromatic leukodystrophy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Hemolysis in glucose-6-phosphate dehydrogenase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Toxicology. Tying genetics to the risk of environmental diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Pott and the path to prevention

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

INTESTINAL LACTASE DEFICIENCY AND DIARRHEA IN ADULTS.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Human Gene Mutation Database (HGMD): 2003 update

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Low nucleotide diversity in man

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=524406

Evidence for substantial fine-scale variation in recombination rates across the human genome

3 December 2018

1 reference

12 December 2020

Screening for homozygous and heterozygous alpha 1-antitrypsin deficiency. Protein electrophoresis on cellulose acetate membranes

1 reference

12 December 2020

Pulmonary Emphysema and Alpha1-Antitrypsin Deficiency

1 reference

12 December 2020

Genotype/phenotype discordance for human arylamine N-acetyltransferase (NAT2) reveals a new slow-acetylator allele common in African-Americans

1 reference

12 December 2020

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1 reference

12 December 2020

Variations on a theme: cataloging human DNA sequence variation

1 reference

12 December 2020

Population genetics--making sense out of sequence

1 reference

12 December 2020

INTESTINAL LACTASE DEFICIENCY AND LACTOSE INTOLERANCE IN ADULTS. PRELIMINARY REPORT

1 reference

12 December 2020

ACQUIRED MILK INTOLERANCE IN THE ADULT CAUSED BY LACTOSE MALABSORPTION DUE TO A SELECTIVE DEFICIENCY OF INTESTINAL LACTASE ACTIVITY

1 reference

12 December 2020

Variation is the spice of life

1 reference

12 December 2020

Environmental health and genomics: visions and implications

1 reference

12 December 2020

BRCA1/2 mutations in Swiss patients with familial or early-onset breast and ovarian cancer

1 reference

12 December 2020

Haplotype tagging for the identification of common disease genes

1 reference

12 December 2020

Human gene variation: from SNPs to phenotypes

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.2730004

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

15364900

1 reference