European Human Genetics Conference Conference Organisation,. Abstract Management. ESHG Secretariat c/o Vienna Medical. The ESHG awards prizes of EUR for outstanding research by young scientists presented as a spoken contribution at the conference. All young scientists. ESHG Logo Final Programme. Last update: June 2, Please note that the programme, titles and speakers are subject to alteration.

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Final Form for Planning inside and outside country Trips planned trips report. International Conferences in Iran with Permission of Ministry. The Congress Reporting Form. International Congress Sabbatical leave Medical Conferences. If you choose other, please name your Research eshhg.

Title of the Congress:. European Human Genetics Conference Title of your Abstract:. Genetic analysis of gonadal disorders of sex development 46, XY DSD by cytogenetic and molecular methods. Mutations of known genes are responsible for sehg a few percentages of these disorders and there are probably some other potential genes or loci that play a role in sexual disorders that are waiting for further analysis. We recruited patients that were clinically suspicious for 46, XY gonadal dysgenesis.


Eshf, other potential loci were investigated by whole genome Array CGH method. One new chromosomal rearrangement and SRY deletion was found in one and five patients, respectively.

Autosomal chromosome abnormalities could play a role in DSD.

SRY gene deletion has a significant role in DSD and has a similar incidence in our patients compared with other reports. SOX2OT might have a potential role in gonadal dysgenesis. Keywords of your Abstract:. The Cover of Abstract book:.

European Human Genetics Conference Home

Published abstract in the abstract book with the related code:. Where has your abstract been indexed? If you choose other, please name:. How many volunteers were present at the Congress? Delegates from which countries presented in the congress? Were the delegates of any other organizations present in the congress?

If yes, please write the names of the organizations in wshg box:. What were the responses to your talking points? Were specific questions or concerns raised?

There were some questions about the commonness and regulations of the genetic tests in Iran, in particular for PND and the policies of the health system in this issues. Please inform us if there are any follow up actions we need to talk with the members of the congress:.

No, actually there is no need to take further actiona as the process of attendance has been accoplished last year.


Conference: ESHG 2013

Your experiences about the travel processes Providing ticket, accommodation, It is a very time consuming process. It takes a lot of work to arrange for tickets, visa, accomodations.

The most difficult one is to book your accommodations while you don’t have a international bank card to make your reservation via hotel online system. Please give a briefing of your own observations and outcomes of the congress: Attendance in such meetings would update us about the recent progress and achievements in the medical genetics field, as there are substantial development in this field of bioscience.

The attendance of Iranian colleagues to these congresses are not proportionate to the extent of their numbers and activities in Iran and such under-represention, which is mainly due to financial concernes, 20013 harm the impact of Iran at international level.

In addition, it is so crucial to take supportive measures to encourage post graduate students to participate in these events.