(Q50856798)

English

Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.

scientific article published on 26 December 2013

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scholarly article

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Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23828768

Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization. (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23828768

Norman Ginsberg

9

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N A Ginsberg

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Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23828768

author name string

M Chen

1

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Europe PubMed Central

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24 March 2018

http://europepmc.org/abstract/MED/23828768

Y-S Yang

2

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24 March 2018

http://europepmc.org/abstract/MED/23828768

J-C Shih

3

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24 March 2018

http://europepmc.org/abstract/MED/23828768

W-H Lin

4

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24 March 2018

http://europepmc.org/abstract/MED/23828768

D-J Lee

5

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24 March 2018

http://europepmc.org/abstract/MED/23828768

Y-S Lin

6

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24 March 2018

http://europepmc.org/abstract/MED/23828768

C-H Chou

7

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24 March 2018

http://europepmc.org/abstract/MED/23828768

A D Cameron

8

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24 March 2018

http://europepmc.org/abstract/MED/23828768

C-A Chen

10

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24 March 2018

http://europepmc.org/abstract/MED/23828768

M-L Lee

11

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24 March 2018

http://europepmc.org/abstract/MED/23828768

G-C Ma

12

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http://europepmc.org/abstract/MED/23828768

publication date

26 December 2013

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24 March 2018

http://europepmc.org/abstract/MED/23828768

Ultrasound in Obstetrics and Gynecology

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24 March 2018

http://europepmc.org/abstract/MED/23828768

43

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24 March 2018

http://europepmc.org/abstract/MED/23828768

4

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http://europepmc.org/abstract/MED/23828768

396-403

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24 March 2018

http://europepmc.org/abstract/MED/23828768

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Role of TBX1 in human del22q11.2 syndrome

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

From karyotyping to array-CGH in prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Array technology in prenatal diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

The introduction of arrays in prenatal diagnosis: a special challenge.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Microduplication 22q11.2: a new chromosomal syndrome

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

The array CGH and its clinical applications

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Array-based comparative genomic hybridization in clinical diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

1 reference

https://api.crossref.org/works/10.1002%2FUOG.12550

21 January 2018

Identifiers

10.1002/UOG.12550

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23828768

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 March 2018

http://europepmc.org/abstract/MED/23828768

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