Publicação
Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes
| dc.contributor.author | Loureiro, Joana | |
| dc.contributor.author | Jorge, Paula | |
| dc.contributor.author | Marques, Isabel | |
| dc.contributor.author | Santos, Rosário | |
| dc.contributor.author | Seixas, Ana | |
| dc.contributor.author | Martins, Márcia | |
| dc.contributor.author | Vale, José | |
| dc.contributor.author | Sequeiros, Jorge | |
| dc.contributor.author | Silveira, Isabel | |
| dc.date.accessioned | 2012-07-11T16:56:39Z | |
| dc.date.available | 2012-07-11T16:56:39Z | |
| dc.date.issued | 2012-05-23 | |
| dc.description | Publicado em: European Journal of Human Genetics Volume 20 Supplement 1 June 2012. Sec1:339 | por |
| dc.description.abstract | Fragile X syndrome (FXS) is the most common hereditary form of intellectual disability with an estimated frequency of 1/4000 males and 1/8000 females. FXS is caused by a (CGG)n expansion of over 200 repeats, in the 5’UTR of the FMR1 gene, which as a result is usually methylated and the gene silenced. Based on CGG repeat length, four classes of alleles can be distinguished: normal (5-44), intermediate (45-54), premutation (55-200; PM) and full mutation (>200; PM) alleles. Premutations expand to full mutation alleles only via maternal transmission and larger premutations have an increased risk of expansion to full mutation. Paternal premutations and full mutations are inherited in the premutation range. The aim of this study is to gain insights into instability of FMR1 CGG repeat alleles and associated phenotypes in 128 Portuguese FXS families. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/927 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.relation | Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas | |
| dc.subject | Fragile X syndrome | por |
| dc.subject | premutations | por |
| dc.subject | Dynamic mutations | por |
| dc.subject | Portuguese FXS families | por |
| dc.subject | FMR1 gene | por |
| dc.subject | CGG repeat length | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardTitle | Implicações clínicas dos factores genéticos envolvidos em doenças neurodegenerativas caracterizadas por alterações do movimento ou cognitivas | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/5876-PPCDTI/PIC%2FIC%2F82897%2F2007/PT | |
| oaire.citation.conferencePlace | Nurnberg, Germany | por |
| oaire.citation.title | European Human Genetics Conference, June 23-26, 2012 | por |
| oaire.fundingStream | 5876-PPCDTI | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | conferenceObject | por |
| relation.isProjectOfPublication | c4aaa4ae-0652-45e0-93cb-97640e3a5bf4 | |
| relation.isProjectOfPublication.latestForDiscovery | c4aaa4ae-0652-45e0-93cb-97640e3a5bf4 |