Reference: GGP02308 Abstract: Failure of correct gene expression underlies many human genetic disorders. In monogenic disorders, altered expression of a single gene can result from loss of the gene and/or modification of regulative control of gene expression. A class of monogenic disorders presents mutations of factors which mediate gene regulation, that can regulate more target … Read more
Reference: GGP02372 Abstract: Autism (A) and A related disorders (ALD)include an heterogeneous group of conditions of almost unknown etiology. In fact, only in 10-25% of cases it is possible to recognize a specific cause, be it genetic or enviromental. Many different studies have pointed to a genetic component in A, indicating that several genes interact … Read more
Reference: GP0072Y01 Abstract: Rett syndrome (RTT) is a genetic disease that occurs almost exclusively in females, with an estimated prevalence of 1 in 10.000-15.000 female births. After normal development up to the age of 6-18 months, follows a period of regression of motor and mental abilities. Affected patients develop loss of speech and purposeful hand … Read more
Reference: na Abstract: n.a PROJECT DETAILS beginning: 2007. end: 2012. Country of research: Italy Counry of funding source: Italy Funding organization: Telethon Financing: PRIVATE FUNDERS – 213 600 € hyperlink
Reference: GGP05119 Abstract: Rett syndrome (RTT) is a genetic disease that occurs almost exclusively in females, with an estimated prevalence of 1 in 10.000-15.000 female births. After normal development up to the age of 6-36 months, follows a period of regression of motor and mental abilities. Affected patients develop loss of speech and purposeful hand … Read more
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