Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
In cases of d-TGA, the FINE method has a high success rate in generating 3 specific abnormal cardiac views and therefore can be performed to screen for this congenital defect.
|
31675129 |
2020 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
In this study the TGA/Chemometric test was applied for diagnosis of a case of congenital hemolytic anemia for which the common first level diagnostic tests were not able to find the erythrocyte congenital defect.
|
31632985 |
2019 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion.
|
29726930 |
2018 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Because pharyngeal arch morphogenesis is compromised in Tbx1-deficient animals, the malformations were considered secondary.
|
30067987 |
2018 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT) malformations.
|
28346476 |
2017 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
T-box transcription factor TBX1 is the major candidate gene for 22q11.2 deletion syndrome (22q11.2DS, DiGeorge syndrome/Velo-cardio-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cleft palate.
|
25556186 |
2015 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Haploinsufficiency or mutation of TBX1 is largely responsible for the etiology of physical malformations in individuals with velo-cardio-facial/DiGeorge syndrome (VCFS/DGS/22q11.2 deletion syndrome).
|
24797903 |
2014 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Above findings may shed light on the mechanism of TBX1 mutations leading to renal malformations found in patients carrying a 22q11 deletion.
|
22842189 |
2014 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Haploinsufficiency of TBX1, encoding a T-box transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients.
|
21796729 |
2011 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This hypomorphic Tbx1 allele per se results in defects resembling 22q11DS but with a low penetrance of hallmark craniofacial malformations, unless chordin is mutant.
|
19247433 |
2009 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Haploinsufficiency of the TBX1 gene has been shown to be sufficient to cause the core physical malformations associated with 22q11DS in mice and humans and via abnormal brain development could contribute to 22q11DS-related and isolated psychiatric disease.
|
17622328 |
2007 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
In recent years, through a variety of mouse mutants that carry multigene and single gene mutations, we have learned that mutation in a single gene, Tbx1, is responsible for most of the congenital defects seen in the mouse models and in patients.
|
16616724 |
2006 |
Congenital Abnormality
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Inactivation of the Tbx1 gene in mice produces a variety of malformations including abnormal branching of the heart outflow tract, deficiencies in the branchial arch derivatives, agenesis of pharyngeal glands and abnormal development of the auditory system.
|
15652707 |
2005 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
DiGeorge and Velocardiofacial syndromes (DGS/VCFS) are endowed by a similar complex phenotype including cardiovascular, craniofacial, and thymic malformations, and are associated with heterozygous deletions of 22q11 chromosomal band.
|
15177686 |
2004 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome.
|
12533514 |
2003 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
22q11 deletion syndrome (22qDS), also known as DiGeorge or velocardiofacial syndrome (DGS/VCFS), is a relatively common genetic anomaly that results in malformations of the heart, face and limbs.
|
12175881 |
2002 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS) is a congenital anomaly disorder associated with hemizygous 22q11 deletions.
|
11709542 |
2001 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
When nuchal translucency measurement is increased, CATCH 22 spectrum of malformations should be considered and therefore a thorough karyotype analysis should be performed to exclude microdeletion of chromosome 22.
|
9621387 |
1998 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
These results strongly support the hypothesis that haploinsufficiency of a gene or genes within 10p (the DGSII locus) can cause the DGS/VCFS spectrum of malformation.
|
8696341 |
1996 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Other signs of VCFS should be looked for in children with cerebellar malformation.
|
8870617 |
1996 |
Congenital Abnormality
|
0.100 |
Biomarker
|
group |
BEFREE |
Deletions within 22q11 have been associated with a wide variety of birth defects embraced by the acronym CATCH22 and including the DiGeorge syndrome, Shprintzen syndrome (velocardiofacial syndrome) and congenital heart disease.
|
7655455 |
1995 |