(Q41345961)

29 September 2017

A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease (English)

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29 September 2017

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Yun Pan

1

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29 September 2017

Zha-Gen Wang

2

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29 September 2017

Xing-Yuan Liu

3

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29 September 2017

Hong Zhao

4

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29 September 2017

Ning Zhou

5

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29 September 2017

Gui-Fen Zheng

6

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29 September 2017

Xing-Biao Qiu

7

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29 September 2017

Ruo-Gu Li

8

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29 September 2017

Fang Yuan

9

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29 September 2017

Hong-Yu Shi

10

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29 September 2017

Xu-Min Hou

11

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29 September 2017

Yi-Qing Yang

12

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29 September 2017

10 April 2015

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29 September 2017

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29 September 2017

36

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29 September 2017

7

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29 September 2017

1400-1410

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https://scigraph.springernature.com/pub.10.1007/s00246-015-1173-x

29 September 2017

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cites work

Pulmonary functions before and after pediatric cardiac surgery.

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Rare variants in NR2F2 cause congenital heart defects in humans

21 January 2018

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Abnormal lung function in adults with congenital heart disease: prevalence, relation to cardiac anatomy, and association with survival

21 January 2018

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Of mice and men: molecular genetics of congenital heart disease

21 January 2018

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Crossed pulmonary arteries: a report on 20 cases with an emphasis on the clinical features and the genetic and cardiac abnormalities

21 January 2018

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The mental health and quality of life of adult patients with congenital heart disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Assessment of pulmonary arterial hypertension and vascular resistance by measurements of the pulmonary arterial flow velocity curve in the absence of a measurable tricuspid regurgitant velocity in childhood congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Genetic abnormalities in FOXP1 are associated with congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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/10.1007%2FS00246-015-1173-X

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

21 January 2018

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Genetic and functional analyses of ZIC3 variants in congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Maternal environmental exposure, infant GSTP1 polymorphism, and risk of isolated congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Brain injury and development in newborns with critical congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Pulmonary hypertension related to congenital heart disease: a call for action

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Genetics of congenital heart disease: the glass half empty

21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Pulmonary arterial hypertension associated with congenital heart disease: recent advances and future directions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Heart disease and stroke statistics--2014 update: a report from the American Heart Association

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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/10.1007%2FS00246-015-1173-X

Potential effects of environmental chemical contamination in congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Mechanisms of T-box gene function in the developing heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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

21 January 2018

1 reference

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Ventricular performance after surgery for a congenital heart defect as assessed using advanced echocardiography: from doppler flow to 3D echocardiography and speckle-tracking strain imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Maternal understanding of infective endocarditis after hospitalization: assessing the knowledge of mothers of children with congenital heart disease and the practical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Muscle function in adults with congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Maternal smoking during pregnancy and the risk of congenital heart defects in offspring: a systematic review and metaanalysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Single coronary artery anomaly: classification and evaluation using multidetector computed tomography and magnetic resonance angiography

21 January 2018

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Subclinical hypothyroidism in grown-up congenital heart disease patients.

21 January 2018

1 reference

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Transcription factor pathways and congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Multi-tiered analysis of brain injury in neonates with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Academic proficiency in children after early congenital heart disease surgery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Improved exercise performance and quality of life after percutaneous pulmonary valve implantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Disorders in glucidic metabolism and congenital heart diseases: detection and prevention

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Nongenetic risk factors and congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Sudden cardiac death and malignant arrhythmias: the scope of the problem in adult congenital heart patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Prevalence of arrhythmias during exercise stress testing in patients with congenital heart disease and severe right ventricular conduit dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Infective endocarditis in children with congenital heart disease: cumulative incidence and predictors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Left atrial volume change throughout the cardiac cycle in children with congenital heart disease associated with increased pulmonary blood flow: evaluation using a novel left atrium-tracking method

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Congenital heart defects in patients with deletions upstream of SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Altered right ventricular function in the long-term follow-up evaluation of patients after delayed aortic reimplantation of the anomalous left coronary artery from the pulmonary artery.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Hemoglobin A1c in pregestational diabetic gravidas and the risk of congenital heart disease in the fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Accuracy of Doppler-derived indices in predicting pulmonary vascular resistance in children with pulmonary hypertension secondary to congenital heart disease with left-to-right shunting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Factors associated with the occurrence and treatment of supraventricular tachycardia in a pediatric congenital heart disease cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Congenital heart disease beyond the age of 60: emergence of a new population with high resource utilization, high morbidity, and high mortality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Congenital anomalies of coronary arteries in children: the evaluation of 22 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Rationale and design of an International Multicenter Registry of patients with repaired tetralogy of Fallot to define risk factors for late adverse outcomes: the INDICATOR cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

The changing epidemiology of congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

The emerging burden of hospital admissions of adults with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Prevalence and spectrum of PITX2c mutations associated with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Role of TBX1 in human del22q11.2 syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

GATA4 loss-of-function mutations underlie familial tetralogy of fallot

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

PITX2c loss-of-function mutations responsible for congenital atrial septal defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

De novo mutations in histone-modifying genes in congenital heart disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Congenital atresia of the left main coronary artery with noncompaction of the ventricular myocardium in an asymptomatic young child

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

Heart failure admissions in adults with congenital heart disease; risk factors and prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00246-015-1173-X

The relationship between atrial septal aneurysm and autonomic dysfunction

21 January 2018

1 reference

12 December 2020

Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion

1 reference

12 December 2020

Cardiac autonomic nervous activity in adults with coarctation of the aorta late after repair

1 reference

12 December 2020

Prevalence and spectrum of GATA5 mutations associated with congenital heart disease

1 reference

12 December 2020

Somatic GATA5 mutations in sporadic tetralogy of Fallot

1 reference

12 December 2020

Anomalous left coronary artery connected to the pulmonary artery associated with other cardiac defects: a difficult joint diagnosis

1 reference

12 December 2020

Frequency of 22q11 deletions in patients with conotruncal defects

1 reference

12 December 2020

GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve

1 reference

12 December 2020

A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve

1 reference

12 December 2020

NKX2.5mutations in patients with congenital heart disease

1 reference

12 December 2020

Novel PITX2c loss-of-function mutations associated with complex congenital heart disease

1 reference

12 December 2020

Incidences and sociodemographics of specific congenital heart diseases in the United States of America: an evaluation of hospital discharge diagnoses

1 reference

12 December 2020

Thromboembolic Complications in Fontan Patients: Population-Based Prevalence and Exploration of the Etiology

1 reference

12 December 2020

Maternal medication use, fetal 3435 C>T polymorphism of the ABCB1 gene, and risk of isolated septal defects in a Han Chinese population

1 reference

12 December 2020

10.1007/S00246-015-1173-X

Identifiers

DOI

1 reference

Dimensions Publication ID

29 September 2017

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