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

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2 November 2019

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2 November 2019

Emanuela Conti

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2 November 2019

Caterina Tandoi

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2 November 2019

Rita Mingarelli

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2 November 2019

Nicoletta Grifone

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2 November 2019

Anna Sarkozy

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2 November 2019

Bruno Marino

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2 November 2019

Maria Cristina Digilio

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2 November 2019

publication date

1 April 2003

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European Journal of Human Genetics

2 November 2019

published in

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2 November 2019

volume

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2 November 2019

issue

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2 November 2019

page(s)

349-351

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

2 November 2019

cites work

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

21 January 2018

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

21 January 2018

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NKX2.5 mutations in patients with tetralogy of fallot

21 January 2018

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7 January 2021

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

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Isolation and Characterization of a Gene from the DiGeorge Chromosomal Region Homologous to the MouseTbx1Gene

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Trends in the Management of Truncal Valve Insufficiency

21 January 2018

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Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization

21 January 2018

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Genomic disorders on 22q11

21 January 2018

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Anatomic patterns of conotruncal defects associated with deletion 22q11

21 January 2018

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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

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7 January 2021

Tetralogy of Fallot associated with chromosome 22q11 deletion

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200956

1 reference

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2 November 2019

1 reference

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