|
Congenital Heart Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
|
29596833 |
2018 |
|
Congenital Heart Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
However, few unequivocal mutations of TBX1 and CRKL have been discovered in isolated conotrucal heart defects (CTDs) patients.
|
24998776 |
2014 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
We provide examples of how several cardiac TFs, such as Nkx2.5, WHSC1, Tbx5, and Tbx1, which are associated with developmental and congenital heart defects, are required for the recruitment of histone modifiers, such as Jarid2, p300, and Ash2l, and components of ATP-dependent remodeling enzymes like Brg1, Baf60c, and Baf180.
|
22194017 |
2012 |
|
Congenital Heart Defects
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities.
|
22893440 |
2012 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Tbx1, subpulmonary myocardium and conotruncal congenital heart defects.
|
21591244 |
2011 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
We report a further patient with a recurrent polyalanine stretch elongation within TBX1 and for the first time link TBX1 cytoplasmatic protein aggregation to congenital heart defects.
|
19948535 |
2010 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.
|
21049214 |
2010 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
CTD_human |
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancy.
|
17000704 |
2006 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).
|
15929620 |
2005 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases.
|
11811651 |
2002 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts.
|
9415694 |
1997 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies.
|
9028455 |
1997 |
|
Congenital Heart Defects
|
0.400 |
Biomarker
|
group |
BEFREE |
First, in this patient, as in others, the heart defects were found in association with subtle facial abnormalities but with few of the other criteria normally seen in CATCH 22.
|
8644631 |
1996 |