Copy number analysis of patients with gonadal abnormalities using high density microarrays and MLPA

Funding Activity

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Funded Activity Summary

Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis and ovary development.

Funded Activity Details

Start Date: 01-01-2009

End Date: 01-01-2011

Funding Scheme: NHMRC Project Grants

Funding Amount: $311,187.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Genetic Development (Incl. Sex Determination)

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

abnormal sexual development | developmental genetics | genetic abnormalities | gonadal development | gonadal dysgenesis | medical genetics | sex determination | sex reversal | testis | testis development