نتایج جستجو برای: angelman syndrome
تعداد نتایج: 621986 فیلتر نتایج به سال:
Most cases of Prader-Willi syndrome are caused by partial deletion of the paternally derived chromosome 15, while maternally derived chromosome 15 is responsible for Angelman syndrome. We report the results of molecular and cytogenetic analyses of a patient who was given a final diagnosis of Prader-Willi syndrome, but also had manifestations consistent with Angelman syndrome. The patient was a ...
The dopamine transporter (DAT) is a crucial regulator of dopaminergic neurotransmission, controlling the length and brevity of dopaminergic signaling. DAT is also the primary target of psychostimulant drugs such as cocaine and amphetamines. Conversely, methylphenidate and amphetamine are both used clinically in the treatment of attention-deficit hyperactivity disorder and narcolepsy. The action...
Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiquitin ligase Ube3A, a gene whose mutation has also recently been associated with autism spectrum disorders (ASDs). The function of Ube3A during nervous system development and how Ube3A mutations give rise to cognitive impairment in individuals with Angleman Syndrome and ASDs are not clear. We report here ...
Microdeletion syndromes are caused by chromosomal deletions of less than 5 megabases which can be detected by fluorescence in situ hybridization (FISH). We evaluated the most commonly detected microdeletions for the period from June 01, 2008 to June 01, 2015 in the Federation of Bosnia and Herzegovina, including DiGeorge, Prader-Willi/Angelman, Wolf-Hirschhorn, and Williams syndromes. We report...
Microdeletions are often characterised by a complex clinical and behavioural phenotype resulting from the imbalance of normal dosage of genes located in that particular chromosomal segment. In this review we include the present state of art and a delineation of the future approach to study the candidate genes in the microdeletion syndromes resulting from unequal homologous recombination at meio...
A recent study has revealed that loss of neuronal expression of the paternally imprinted gene Ube3a in Angelman syndrome results in selective neuronal loss of robust circadian oscillations, with a resulting behavioural phenotype, and adipose tissue accumulation.
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