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: R000238229 Abstract: Rett syndrome is a developmental disorder, almost exclusively affecting girls, which goes undetected in early infancy until a dramatic regression in development around 9-12 months. Although Rett syndrome is present from birth early signs of the disorder are difficult to detect. Family home videos, taken before the childﾒs problems were recognised, offer … Read more
Reference: INTAS-1997 1916 Abstract: n.a PROJECT DETAILS beginning: 1999. end: 2002. Country of research: United Kingdom, Sweden Counry of funding source: EU Funding organization: INTAS Financing: EU-CORDIS – 80 000 € hyperlink
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