User talk:Z3291643: Difference between revisions
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--[[User:Z3291643|z3291643]] 21:37, 10 August 2011 (EST) | --[[User:Z3291643|z3291643]] 21:37, 10 August 2011 (EST) | ||
== Timeline == | |||
{| style="width:100%" | |||
|- bgcolor="lightpink" | |||
!Year | |||
!Notes | |||
|-style="width:100%" | |||
|1965 | |||
|First reported by Dr Harry Angelman- Initially called this disorder “Happy Puppet Syndrome” | |||
|-style="width:100%" | |||
|1980s | |||
|First reports of AS reaches US and research into the disorder being at the University of Florisa under the direction of Dr. Charles Williams. | |||
|-style="width:100%" | |||
|1987 | |||
|Discovery of a genetic marker for AS – an absent genetic code on chromosome 15 | |||
|-style="width:100%" | |||
|1997 | |||
|The cause of AS discovered by Dr. Joseph Wagstaff and Dr. Arthur Beaudet – mutation or deletion in the UBE3A gene. | |||
|-style="width:100%" | |||
|Current | |||
|Four different genetic abnormalities for AS confirmed by genetic testing; Deletion, Uniparental Disomy (UPD), Imprinting and UBE3A mutation. | |||
|} | |||
Revision as of 22:27, 1 September 2011
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1721745/pdf/v089p0F436.pdf--Sang Lee 21:32, 17 August 2011 (EST)
Identify a review and a research article related to your group topic.
This research article showed genotype-phenotype correlations in Angelman Syndrome (AS). They have concluded that deletion patients had worse developmental outcomes than non deletion patients. Abstract at PMID 20729760
This review article is really comprehensive and gives a good background knowledge of AS. Astract at PMID 20445456
--z3291643 21:37, 10 August 2011 (EST)
Timeline
| Year | Notes |
|---|---|
| 1965 | First reported by Dr Harry Angelman- Initially called this disorder “Happy Puppet Syndrome” |
| 1980s | First reports of AS reaches US and research into the disorder being at the University of Florisa under the direction of Dr. Charles Williams. |
| 1987 | Discovery of a genetic marker for AS – an absent genetic code on chromosome 15 |
| 1997 | The cause of AS discovered by Dr. Joseph Wagstaff and Dr. Arthur Beaudet – mutation or deletion in the UBE3A gene. |
| Current | Four different genetic abnormalities for AS confirmed by genetic testing; Deletion, Uniparental Disomy (UPD), Imprinting and UBE3A mutation. |
