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
Reference: na Abstract: n.a PROJECT DETAILS beginning: 2012. end: 2014. Country of research: Italy Counry of funding source: Italy Funding organization: Telethon Financing: PRIVATE FUNDERS – 81 900 € hyperlink
Reference: E.0869 Abstract: Our interest is to clarify the biology of the second human pseudoautosomal region, located at the end of long arm of the X chromosome and its involvment in genetic pathologies. Genes located in this region show different transcriptional behaviour, escaping or not the X inactivation. Such effects could be likely caused by … Read more
Reference: GGP05236 Abstract: Rett syndrome is a major cause of mental retardation, second only to the incidence of Down syndrome, and occurs almost exclusively in females. This disease manifests itself after a period of apparently normal development and causes growth retardation, severe psychomotor and autistic-like behaviors . The majority of cases of Rett syndrome is … Read more
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