Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge ...
A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers ...
Researchers have found that mitochondrial dysfunction in the blood-brain barrier (BBB) may lead to neuropsychiatric disease in some patients with DiGeorge syndrome. Changes in brain connectivity ...
Brain activity patterns during sleep shed light on the neurobiology behind 22q11.2 Deletion Syndrome
The brain activity patterns during sleep shed light on the neurobiology behind a genetic condition called 22q11.2 Deletion Syndrome (22q11.2DS) and could be used as a biomarker to detect the onset of ...
A study in youth who are missing part of a chromosome is further implicating a suspect gene in schizophrenia. Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold ...
Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.
PLYMOUTH MEETING, Pa., Dec. 5, 2023 /PRNewswire/ -- Harmony Biosciences Holdings, Inc. (HRMY), a pharmaceutical company dedicated to developing and commercializing innovative therapies for patients ...
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