Track topics on Twitter Track topics that are important to you
Published on BioPortfolio: 2015-12-21T06:04:40-0500
The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes...
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widel...
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Ariosa Test) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
This randomized withdrawal study will evaluate the safety and efficacy of NFC-1 in subjects aged 12-17 years with 22q11.2 deletion syndrome and commonly associated neuropsychiatric conditi...
In this study, the investigators will investigate the impact and the related mechanism of metformin treatment on cognitive impairment of schizophrenia co-morbid metabolic syndrome (Sch-Met...
The 22q11.2 deletion syndrome (22q11DS) is one of the highest known risk factors for schizophrenia and recent findings have highlighted the clinical relevance of ultra-high risk (UHR) criteria in this...
The 22q11.2 deletion is a strong, but insufficient, "first hit" genetic risk factor for schizophrenia (SZ). We attempted to identify "second hits" from the entire genome in a unique multiplex 22q11.2 ...
The neurobehavioral phenotype of 22q11.2 deletion syndrome (22q11DS) includes cognitive dysfunction and high rates of psychotic symptoms and schizophrenia. Existing research has mainly considered chan...
Individuals with 22q11.2 Deletion Syndrome (22q11.2DS) are at substantial increased risk of psychosis spectrum outcomes including schizophrenia. We conducted a prospective, longitudinal study of the p...
Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries...
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
A chronic form of schizophrenia characterized primarily by the presence of persecutory or grandiose delusions, often associated with hallucination.
A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture.
An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia.
Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.