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This article discusses known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural tube defects and causative genes, if known
Abstract:
Although most neural tube defects (anencephaly, spina bifida) occur as isolated malformations, a substantial proportion are attributable to chromosome anomalies, known teratogens, or component manifestations of multiple anomaly syndromes. This review describes known chromosome alterations and the candidate genes residing in the altered region, as well as syndromes associated with neural more...
Geography:
Republic of Ireland
Am J Med Genet C Semin Med Genet,
Vol: 135C Page: 69-76 May 2005
S. A. Lynch
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The aim of this study was to describe the association of serotonin transporter gene and autism
Abstract:
The role of the serotonin transporter (5-HTT) in the development of neuropsychiatric disorders has been widely investigated. Two polymorphisms, an insertion/deletion in the promoter region and a 12 repeat allele in a variable nucleotide tandem repeat (VNTR) in intron 2, drive higher expression of the 5-HTT gene. Four studies have shown nominally significant excess transmission of more...
International Classification:
Mental and behavioural disorders - Disorders of psychological development - autism
Categories:
autism
Geography:
Republic of Ireland
Mol Psychiatry,
Vol: 9 Page: 587-93 June 2004
J. Conroy; E. Meally; G. Kearney; M. Fitzgerald; M. Gill; L. Gallagher
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The aim of this study was to describe the association of SNAP-25/DdeI allelel and attention-deficit hyperactivity disorder cases
Abstract:
Several lines of evidence have suggested that ADHD is a polygenic disorder produced by the interaction of several genes each of a minor effect. Synaptosomal-associated protein 25 (SNAP-25) is a presynaptic plasma membrane protein which is expressed highly and specifically in the nerve cells. The gene encodes a protein essential for synaptic vesicle fusion and neurotransmitter release. more...
International Classification:
Mental and behavioural disorders - Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - attention-deficit hyperactivity disorder
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
Mol Psychiatry,
Vol: 7 Page: 913-7 2002
K. Brophy; Z. Hawi; A. Kirley; M. Fitzgerald; M. Gill
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