London, UK - Three research teams have identified one gene - TBX1 - as underlying the cardiac defects associated with DiGeorge syndrome (DGS) in a mouse model, and as possibly underlying other ...
A review of: Jerome AL, Papaioannou V 2001 DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nature Genet 27:286–291 DiGeorge syndrome (DGS) is characterized by congenital heart ...
DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome) is associated with hemizygous deletion of a region of human chromosome 22q11, causing a range of abnormalities including ...
Q: What is DiGeorge syndrome? A: DiGeorge syndrome (DGS) is a genetic disorder caused by the deletion of some of the genes on chromosome 22. There is a lot of variability in how patients are affected ...
More than 20 years ago, doctors at Mattel Children's Hospital UCLA performed a successful bone marrow transplant on a baby girl who was born without a thymus gland and was suffering from severe immune ...
Researchers found that survival with bone marrow transplant was greater than 75 percent, similar to thymic transplantation, for treatment of complete DiGeorge syndrome. More than 20 years ago, doctors ...
A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans. The research group, headed by Dr. Lukas Sommer at the Swiss Federal ...
Mice genetically engineered to mimic human DiGeorge syndrome provide clues to the genetic basis of this chromosomal deletion syndrome and question UFD1L as the sole candidate gene. You have full ...
A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans. The research group, headed by Dr. Lukas Sommer at the Swiss Federal ...
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a small deletion in chromosome 22 at position q11.2. The condition is usually not passed on from parents to ...