(Q35950127)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

single-nucleotide polymorphism

4 February 2020

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Dana Crawford

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

Carrie L Heike

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Mark J Rieder

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Michael L Cunningham

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Karen L Edwards

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Ian B Stanaway

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

publication date

1 January 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

Birth Defects Research Part A: Clinical and Molecular Teratology

4 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

page(s)

54-63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

The del22q11.2 candidate gene Tbx1 controls regional outflow tract identity and coronary artery patterning

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Estimating coverage and power for genetic association studies using near-complete variation data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

The road to genome-wide association studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Automating sequence-based detection and genotyping of SNPs from diploid samples

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

The patterns of natural variation in human genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Defining the clinical spectrum of deletion 22q11.2

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Pattern of sequence variation across 213 environmental response genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Functional analysis of polymorphisms in the promoter regions of genes on 22q11.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

The International HapMap Project

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Role of TBX1 in human del22q11.2 syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

TBX1 is required for inner ear morphogenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

SIFT: Predicting amino acid changes that affect protein function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Human non-synonymous SNPs: server and survey

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Linkage disequilibrium in humans: models and data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Use of unlinked genetic markers to detect population stratification in association studies.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Statistical method for testing the neutral mutation hypothesis by DNA polymorphism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Efficient selection of tagging single-nucleotide polymorphisms in multiple populations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate 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=4535433

The annual incidence of DiGeorge/velocardiofacial 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=4535433

The value of gene-based selection of tag SNPs in genome-wide association studies.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535433

TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy

14 November 2018

1 reference

12 December 2020

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion

1 reference

12 December 2020

Variation is the spice of life

1 reference

12 December 2020

[Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases]

1 reference

12 December 2020

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects

1 reference

12 December 2020

An association study between the genetic polymorphisms within TBX1 and schizophrenia in the Chinese population

1 reference

12 December 2020

Identifiers

DOI

10.1002/BDRA.20604

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19645056%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference