DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis.
|
30799418 |
2019 |
Shprintzen syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients.
|
30799418 |
2019 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion.
|
29726930 |
2018 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs).
|
28059126 |
2017 |
DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In rare patients, mutations in a single gene, TBX1, have been described resulting in a DGS phenotype.
|
28436605 |
2017 |
Shprintzen syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs).
|
28059126 |
2017 |
DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome.
|
26742502 |
2016 |
DiGeorge Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Therefore, our result further confirms the pathogenic basis of <i>Tbx1</i> in DGS, points out the crucial role of DNA binding activity of TBX1 for the ear function, and provides additional animal model for studying the DGS disease mechanisms.
|
28105375 |
2016 |
DiGeorge Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable.
|
25892112 |
2015 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates.
|
25209980 |
2015 |
Shprintzen syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates.
|
25209980 |
2015 |
Shprintzen syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients.
|
24637876 |
2014 |
DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Our data reveal a molecular mechanism for a specific chromatin modification of the Tbx1 locus intersecting with an environmental determinant, modeling variability in DiGeorge syndrome.
|
22921202 |
2012 |
Shprintzen syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype.
|
22796526 |
2012 |
Shprintzen syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
This article will discuss recent developmental biologic understanding of the role of TBX1 and genetic modifiers generating the phenotypic variability seen in VCFS patients.
|
23000736 |
2012 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We showed that inactivation of Bmp4 from Tbx1-expressing cells leads to the spectrum of deformities resembling the cardiovascular defects observed in human DiGeorge syndrome patients.
|
21123999 |
2011 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice.
|
21177346 |
2011 |
DiGeorge Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tbx1, the major candidate gene for DiGeorge syndrome, is a critical transcriptional regulator of second heart field development.
|
21591244 |
2011 |
DiGeorge Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DiGeorge syndrome, or velocardiofacial syndrome (DGS/VCFS), is a rare and usually sporadic congenital genetic disorder resulting from a constitutional microdeletion at chromosome 22q11.2.
|
20730472 |
2011 |
DiGeorge Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level.
|
21797804 |
2011 |
Shprintzen syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Using iPSCs derived from three schizophrenia (SZ) patients, one of whom has 22q11.2del (velocardiofacial syndrome; VCFS), the authors developed a culture system to study SZ on a molecular and cellular level.
|
21797804 |
2011 |