DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene (Q58193810)

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2 November 2019

title

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene (English)

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2 November 2019

8

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Bruno Dallapiccola

9

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1

Emanuela Conti

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2 November 2019

4

Caterina Tandoi

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7

Rita Mingarelli

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2 November 2019

author name string

Nicoletta Grifone

2

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2 November 2019

Anna Sarkozy

3

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Bruno Marino

5

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Maria Cristina Digilio

6

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publication date

1 April 2003

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European Journal of Human Genetics

2 November 2019

published in

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volume

11

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2 November 2019

page(s)

349-351

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issue

4

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200956

2 November 2019

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Tetralogy of Fallot in three siblings: a familial study and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

NKX2.5 mutations in patients with tetralogy of fallot

21 January 2018

2 references

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

21 January 2018

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

7 January 2021

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Trends in the management of truncal valve insufficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Genomic disorders on 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

Anatomic patterns of conotruncal defects associated with deletion 22q11

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

7 January 2021

Interruption of the aortic arch associated with deletion of chromosome 22q11 is associated with a subarterial and doubly committed ventricular septal defect in Japanese patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

7 January 2021

Tetralogy of Fallot associated with chromosome 22q11 deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200956

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200956

1 reference

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2 November 2019

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