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Page Neonatal Diseases And Disorders Back to top of Page. jacobsen syndrome. of Child Health (UK) About jacobsen syndromeOMIM; McKusik NCBI (US) The Int'l 11;22 Translocation Network http://www.insight-media.co.uk/users/stevew/Pages/Page Neonatal Diseases and Dis
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Dr Slijepcevic by a new telomere. This chromosome breakage has a specific phenotype,disease known as jacobsen syndrome. We are currently using http://www.brunel.ac.uk/depts/bio/staff/slip.htm
Extractions: Telomere biology Telomeres are specialised structures at chromosome termini implicated in cellular ageing and carcinogenesis. Our research is focused on understanding the mechanisms of telomere length regulation in mammalian cells, as well as the mechanisms of new telomere acquisition following spontaneous or induced chromosome breakage. We have demonstrated that interstitial telomeric sequences present in chromosomes of many vertebrate species are sensitive to both spontaneous and induced chromosome breakage. A model has been proposed to explain breakage sensitivity of interstitial telomeric sites. In addition, we have demonstrated acquisition of a new telomere at 11q23.3 in the human genome: chromosome breakage occurred within the FRA11B fragile site and broken chromosome was stabilised by a new telomere. This chromosome breakage has a specific phenotype, disease known as Jacobsen syndrome. We are currently using Q-FISH (quantitative fluorescence in situ hybridization) to study telomere length regulation in normal and mutant mammalian cells. These studies revealed that telomere length is chromosome-specific, and that centromere position affects telomere length in individual chromosomes. Telomeres closer to centromeres appear to be shorter than their counterparts more distant from centromeres. A model designed to explain this centromere position effect has recently been proposed and we are currently testing the model. We have also identified a telomere phenotype associated with the murine
Malattie Rare E Genetiche Lettera "J" syndrome de{} * Jakob Creutzfeld Malattia di= Vedi Malattia di CreutzfeldJakob* Jacobsen Sindrome dijacobsen syndrome deJacobsen, Síndrome de http://utenti.lycos.it/fmfpc/J.htm
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Hi-Tech HyperSearch ... Health:Medical WEB site Rate This Site 0.00 / 0 Votes The Fragile Web Site provides informationon the chromosome deletion syndrome, jacobsen syndrome (11q syndrome) as http://www.hi-tech.net/hypersearch/Health/Medical/index9.html
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Untitled Prenatal diagnosis of jacobsen syndrome. jacobsen syndrome is a contiguous genedeletion syndrome caused by the deletion of chromosome 11q23 to qter. http://www.faseb.org/genetics/ashg00/f2381.htm
Untitled Program Nr 808 jacobsen syndrome four Korean children with thrombocytopeniaor neutropenia. EJ Seo, SM Ahn, JY Lee, HW Yoo. Medical http://www.faseb.org/genetics/ashg00/f808.htm