Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 11 of 11 for “"22q11.2 Deletion Syndrome"”.
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Deficits in eye movement control in children with 22q11.2 deletion syndrome.
Background: The 22q11.2 deletion syndrome (22q11.2 DS) causes a wide variety of symptoms, but the central nervous system (CNS) dysfunction is the one most likely to affect the day-to-day life of those affected by this genetic disorder. In addition to affecting the educational needs of children with …
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Executive Dysfunction is Predictive of Clinical Symptomatology in 22q11.2 Deletion Syndrome
<p>By adulthood, 25%- 30% of individuals with 22q11.2 deletion syndrome (22qDS) develop a psychotic disorder, often schizophrenia, and it is not understood why. Given the known genetic etiology of this disorder and the greatly elevated risk for development of schizophrenia, this group offers the …
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Theory of mind in youth and emerging adults with chromosome 22q11.2 deletion syndrome, with and without comorbid mood disorder
… especially common in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). Disruptions in social functioning are a common feature of mood disorders, including social withdrawal and loss of interest in activities that the individual typically experiences as pleasurable (anhedonia). …
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Development and Validation of Quantitative PCR Assays for DNA-Based Newborn Screening of 22q11.2 Deletion Syndrome, Spinal Muscular Atrophy, Severe Combined Immunodeficiency and Congenital Cytomegalovirus Infection
… include DNA-based targets. Four rare disorders; deletion 22q11.2 syndrome and Spinal Muscular Atrophy (SMA), Severe Combined Immunodeficiency (SCID) and Congenital Cytomegalovirus (CMV), are potential candidates for inclusion to the newborn screening panel within the next few years. The major …
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Developmental origins of cortical circuit dysfunction in a 22q11 deletion mouse model
… and autism, intellectual disability. The 22q11.2 deletion syndrome (22q11DS) is a major genetic risk factor for psychiatric illness and provides an optimal genetic model disease to explore how gene dosage imbalance impacts cortical circuit development. Study 1 examined the developmental …
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Obstetrician and Gynecologist Utilization of The Nipt Expanded Testing Option
… screen for additional trisomies and select microdeletion syndromes, such as 22q11.2 deletion syndrome and 5 p- syndrome, became clinically available. Due to this rapidly evolving prenatal screening technology, clinicians must make a conscious effort to keep abreast of the current options; …
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Analysis and characterisation of the mouse Hic2 gene
… The human gene HIC2 maps to chromosome 22q11.2, and is a homolog of the HIC1 candidate tumor suppressor gene located at 17p 13.3. (Deltour et al. 2001). Upstream from the TATA box MatInspector predicted different transcription binding sites. Between them Wilms Tumor Suppressor and p53 …
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Generation and Characterization of Human Blood-Brain Barrier Models for Investigating Neuropsychiatric Disorders and Tumor Metastasis
… of the BBB formed by BMECs is compromised in 22q11.2 deletion syndrome (also called DiGeorge syndrome), which is one of the validated genetic risk factors for schizophrenia, a 2D iBBB (induced BBB) on a Transwell filter was generated from human microvascular endothelial cells (HBMECs) derived …
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An analysis of the phenotypic features of chromosomes 22q11.1 deletion syndrome at Red Cross War Memorial Children's Hospital
Chromosome 22q11.2 deletion syndrome (22qDS) is an inherited autosomal dominant disorder. It is the second most commonly occurring syndrome, Trisomy 21 being the most common. It is the most common microdeletion syndrome. The clinical range of features with which affected individuals present is very …
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Genomic Designation: New kinds of people at the intersection of genetics, medicine and social action
… conditions like the XXX, Edwards, Fragile X and 22q11.2 Deletion Syndromes have been discovered, delineated and diagnosed strictly according to abnormalities in the genome, even in the absence of phenotypic coherence - a practice which I call `genomic designation'. This dissertation uses …