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22q11.2 Deletion Syndrome

DiGeorge sequenceShprintzen syndromeDiGeorge SyndromeVelocardiofacial Syndrome (VCFS)Conotruncal Anomaly Face Syndrome (CTAF)
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "22q11.2 Deletion Syndrome" returned 32 free, full-text review articles. First few results:
Neurobiological perspective of 22q11.2 deletion syndrome.
Last Updated: Nov 04, 2019

22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures ...

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Last Updated: Dec 10, 2019

Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult. Nevertheless, commonalities have been identified and white papers with recommended evaluations and anticipatory ...

Molecular genetics of 22q11.2 deletion syndrome.
Last Updated: Oct 15, 2019

The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals of this review is to summarize the current state of basic research studies of 22q11.2DS. It highlights efforts to understand ...

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32 Free Review Articles 77 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "22q11.2 Deletion Syndrome" returned 2 free, full-text editorial articles. First 2 results:
Full PubMed Editorials matches at NCBI:
2 Free Editorials 4 Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "22q11.2 Deletion Syndrome" returned 243 free, full-text research articles. First few results:
A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report.
Last Updated: Aug 02, 2019

It is rare to find 22q11.2 deletion syndrome with pseudohypoparathyroidism in children. Furthermore, the phenotypic spectrum of this disorder varies widely.

Pharyngeal flap using carotid artery mobilization in 22q11.2 deletion syndrome with velopharyngeal insufficiency.
Last Updated: May 14, 2019

22q11.2 deletion syndrome is the most common microdeletion syndrome in children. Many patients with this disease develop craniofacial defects including cleft palate, bifid uvula, and velopharyngeal insufficiency. Our study adds to the current body of literature by describing a novel ...

An implicit and reliable neural measure quantifying impaired visual coding of facial expression: evidence from the 22q11.2 deletion syndrome.
Last Updated: Oct 17, 2019

Although various psychiatric disorders present with social-cognitive impairment, a measure assessing social-cognitive processes implicitly and reliably, with high selectivity and with enough signal-to-noise ratio (SNR) for individual evaluation of any population at any age, is lacking. ...

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