S Oskarsdottir, E Boot, TB Crowley, JCY Loo… - Genetics in …, 2023 - Elsevier
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11. 2 deletion syndrome (22q11. 2DS). The 22q11. 2 Society, the …
Background—The goal of this statement was to review the available literature on surveillance, screening, evaluation, and management strategies and put forward a scientific …
Abstract Chromosome 22q11. 2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: 4000 …
DC Bellinger, D Wypij, LA Rappaport, RA Jonas… - The Journal of thoracic …, 2003 - Elsevier
OBJECTIVES: Our goal was to determine which of the two major methods of vital organ support used in infant cardiac surgery, total circulatory arrest and low-flow cardiopulmonary …
M Karayiorgou, TJ Simon, JA Gogos - Nature Reviews Neuroscience, 2010 - nature.com
Recent studies are beginning to paint a clear and consistent picture of the impairments in psychological and cognitive competencies that are associated with microdeletions in …
LJ Kobrynski, KE Sullivan - The Lancet, 2007 - thelancet.com
Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous deletions of chromosome 22q11. 2. This deletion …
Neurodevelopmental disorders can be caused by many different genetic abnormalities that are individually rare but collectively common. Specific genetic causes, including certain copy …
To account for the complex genetics, the developmental biology, and the late adolescent/early adulthood onset of schizophrenia, the “two-hit” hypothesis has gained …
PJ Scambler - Human molecular genetics, 2000 - academic.oup.com
DiGeorge syndrome, velocardiofacial syndrome and various other malformations have been described in association with deletions and translocations involving human chromosome …