(Q41910576)

English

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

scientific article published on October 2010

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scholarly article

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15 February 2020

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants (English)

1 reference

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15 February 2020

tetralogy of Fallot

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based on heuristic

inferred from title

1

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15 February 2020

Christiane Zweier

4

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15 February 2020

A. Graham Stuart

5

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15 February 2020

Peter J Scambler

11

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15 February 2020

10

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Anita Rauch

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15 February 2020

Judith A Goodship

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Judith A Goodship

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15 February 2020

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John Burn

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15 February 2020

John E. Deanfield

8

object named as

John Deanfield

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15 February 2020

author name string

Ana Töpf

2

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15 February 2020

Elise Glen

3

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15 February 2020

Jonathan Parsons

6

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15 February 2020

Ian Peart

7

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15 February 2020

John O'Sullivan

9

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15 February 2020

Heather J Cordell

13

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15 February 2020

Bernard Keavney

14

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15 February 2020

language of work or name

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publication date

1 October 2010

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15 February 2020

1 reference

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15 February 2020

96

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15 February 2020

20

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15 February 2020

1651-1655

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15 February 2020

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Tbx1 regulates proliferation and differentiation of multipotent heart progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

In vivo response to high-resolution variation of Tbx1 mRNA dosage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Tbx1 is regulated by forkhead proteins in the secondary heart field

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Role of TBX1 in human del22q11.2 syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

The incidence of congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

The epidemiology and genetics of congenital heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

5 June 2018

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

18 August 2018

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

18 August 2018

Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

18 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

18 August 2018

Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2976076

18 August 2018

Identifiers

10.1136/HRT.2010.200121

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15 February 2020

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24 November 2022

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15 February 2020

1 reference

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15 February 2020

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