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 4 of 4 for “"22q11 deletion"”.
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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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Lower extremity features of Velocardiofacial syndrome and other 22q11 deletions
… aetiology (PUA) in children and adolescents with 22q11 deletion. A leg pain questionnaire was designed and administered to 300 patients with 22q11 deletion and to 4507 school children. Replies were received from 119 patients (Return rate 39.6%) and from 1391 school children (Return rate 30.8%). A …
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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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Caracterización clínica de pacientes pediátricos con síndrome de deleción 22q11 atendidos en Hospital de Bogotá, durante el periodo de 2010 a 2020
El síndrome de deleción 22q11 (22q11DS) es el segundo síndrome genético más común y la segunda causa de cardiopatía congénita en la infancia (1). El 90-95% de los casos se deben a microdeleciones de novo, con un riesgo de recurrencia de ∼1%. El 22q11DS afecta múltiples sistemas que incluyen el …