publication . Thesis

A molecular analysis of 22q11.2 deletion syndrome

Salaka, Afnan;
Open Access English
  • Country: United Kingdom
Abstract
22q11.2 Deletion Syndrome is a genetic syndrome that occurs in incidence of 1:4000 and is associated with variable phenotypic expression. It is caused by a deletion at chromosome 22q11.2. Individuals with 22q11.2DS have a greatly increased risk of developing neuropsychiatric disorders, in particular schizophrenia in adulthood, and ADHD and ASD in childhood.\ud This thesis sought to investigate the possible molecular mechanisms that underlie the psychiatric variability in 22q11.2DS by studying a well-characterized cohort of 76 children with 22q11.2DS. Four mechanisms were investigated: (a) dosage sensitivity of genes within 22q11.2 region, (b) a disruption of the...
Subjects
free text keywords: QH426, RC0321
Related Organizations
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
25 references, page 1 of 2

Alberts, B. et al., 2002. Meiosis. Molecular Biology of the Cell. 4th edition. New York: Garland Science Publishing, pp.846-854.

Amati, F. et al., 2007. Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Gene, 391, pp.91-102. [OpenAIRE]

Angold, A. et al., 1995. The Child and Adolescent Psychiatric Assessment (CAPA).

Psychological Medicine, 25(4), pp.739-53.

Anney, R. et al., 2010. A genome-wide scan for common alleles affecting risk for autism.

Human Molecular Genetics, 19(20), pp.4072-4082.

Antshel, K. et al., 2006. ADHD, Major Depressive Disorder, and Simple Phobias are prevalent psychiatric conditions in youth with Velocardiofacial Syndrome. Journal of the American Academy of Child & Adolescent Psychiatry, 45(5), pp.596-603. [OpenAIRE]

Antshel, K. et al., 2010. Cognitive and psychiatric predictors to psychosis in Velocardiofacial Syndrome: A 3-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 49(4), pp.333-344. [OpenAIRE]

Babcock, M. et al., 2003. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Research, 13, pp.2519- 2532.

Bailey, J. et al., 2002. Recent segmental duplications in the human genome. Science, 297, pp.1003-1007.

Baker, K. et al., 2005. COMT Val108/158Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biological Psychiatry, 58, pp.23-31.

Ballif, B. et al., 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nature Genetics, 39(9), pp.1071-1073. [OpenAIRE]

Bassett, A. et al., 2005. Clinical features of 78 adults with 22q11 deletion syndrome.

American Journal of Medical Genetics Part A, 138A, pp.307-313.

Bassett, A. et al., 2007. Catechol-o-methyl transferase and expression of schizophrenia in 73 adults with 22q11 Deletion Syndrome. Biological Psychiatry, 61, pp.1135-1140.

25 references, page 1 of 2
Abstract
22q11.2 Deletion Syndrome is a genetic syndrome that occurs in incidence of 1:4000 and is associated with variable phenotypic expression. It is caused by a deletion at chromosome 22q11.2. Individuals with 22q11.2DS have a greatly increased risk of developing neuropsychiatric disorders, in particular schizophrenia in adulthood, and ADHD and ASD in childhood.\ud This thesis sought to investigate the possible molecular mechanisms that underlie the psychiatric variability in 22q11.2DS by studying a well-characterized cohort of 76 children with 22q11.2DS. Four mechanisms were investigated: (a) dosage sensitivity of genes within 22q11.2 region, (b) a disruption of the...
Subjects
free text keywords: QH426, RC0321
Related Organizations
Funded by
WT
Project
  • Funder: Wellcome Trust (WT)
25 references, page 1 of 2

Alberts, B. et al., 2002. Meiosis. Molecular Biology of the Cell. 4th edition. New York: Garland Science Publishing, pp.846-854.

Amati, F. et al., 2007. Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Gene, 391, pp.91-102. [OpenAIRE]

Angold, A. et al., 1995. The Child and Adolescent Psychiatric Assessment (CAPA).

Psychological Medicine, 25(4), pp.739-53.

Anney, R. et al., 2010. A genome-wide scan for common alleles affecting risk for autism.

Human Molecular Genetics, 19(20), pp.4072-4082.

Antshel, K. et al., 2006. ADHD, Major Depressive Disorder, and Simple Phobias are prevalent psychiatric conditions in youth with Velocardiofacial Syndrome. Journal of the American Academy of Child & Adolescent Psychiatry, 45(5), pp.596-603. [OpenAIRE]

Antshel, K. et al., 2010. Cognitive and psychiatric predictors to psychosis in Velocardiofacial Syndrome: A 3-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry, 49(4), pp.333-344. [OpenAIRE]

Babcock, M. et al., 2003. Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. Genome Research, 13, pp.2519- 2532.

Bailey, J. et al., 2002. Recent segmental duplications in the human genome. Science, 297, pp.1003-1007.

Baker, K. et al., 2005. COMT Val108/158Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biological Psychiatry, 58, pp.23-31.

Ballif, B. et al., 2007. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nature Genetics, 39(9), pp.1071-1073. [OpenAIRE]

Bassett, A. et al., 2005. Clinical features of 78 adults with 22q11 deletion syndrome.

American Journal of Medical Genetics Part A, 138A, pp.307-313.

Bassett, A. et al., 2007. Catechol-o-methyl transferase and expression of schizophrenia in 73 adults with 22q11 Deletion Syndrome. Biological Psychiatry, 61, pp.1135-1140.

25 references, page 1 of 2
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