| The fragile X continuum: new advances and perspectives. | |
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MedLine Citation:
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PMID: 18444988 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene-1. A substantial body of research across the disciplines of molecular genetics, child psychiatry and developmental neuroscience bears testament to a decade of exciting and innovative science that has advanced our knowledge about the fragile X 'signature' or influence across cognitive and social development. The core aims of this review are to first discuss fragile X syndrome and premutation involvement in the context of current advances that demonstrate the dynamic nature of the genotype on phenotypic outcomes. Second, to discuss the implications of these recent advances for the development of clinical and educational interventions and resource tools that target specific phenotypic 'signatures' within the fragile X continuum. |
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Authors:
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K Cornish; J Turk; R Hagerman |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review Date: 2008-04-28 |
Journal Detail:
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Title: Journal of intellectual disability research : JIDR Volume: 52 ISSN: 1365-2788 ISO Abbreviation: J Intellect Disabil Res Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-05-20 Completed Date: 2008-08-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9206090 Medline TA: J Intellect Disabil Res Country: England |
Other Details:
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Languages: eng Pagination: 469-82 Citation Subset: IM |
Affiliation:
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McGill Child Laboratory for Research and Education in Developmental Disorders, McGill University, Montréal, Canada. kim.cornish@mcgill.ca |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Attention Deficit Disorder with Hyperactivity / diagnosis, genetics, therapy Child DNA Mutational Analysis Education of Mentally Retarded Female Fragile X Mental Retardation Protein / genetics Fragile X Syndrome / diagnosis, genetics*, therapy Genotype Heterozygote Detection Humans Male Mental Retardation / diagnosis, genetics, therapy Phenotype RNA, Messenger / genetics |
| Grant Support | |
ID/Acronym/Agency:
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HD02274/HD/NICHD NIH HHS; HD36071/HD/NICHD NIH HHS; NS43532/NS/NINDS NIH HHS; R21TW06761-01/TW/FIC NIH HHS; UIO/CCU 92513//PHS HHS; //Wellcome Trust |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/RNA, Messenger; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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