Document Detail


The fragile X continuum: new advances and perspectives.
MedLine Citation:
PMID:  18444988     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
K Cornish; J Turk; R Hagerman
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Publication Detail:
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:
Title:  Journal of intellectual disability research : JIDR     Volume:  52     ISSN:  1365-2788     ISO Abbreviation:  J Intellect Disabil Res     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-05-20     Completed Date:  2008-08-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206090     Medline TA:  J Intellect Disabil Res     Country:  England    
Other Details:
Languages:  eng     Pagination:  469-82     Citation Subset:  IM    
Affiliation:
McGill Child Laboratory for Research and Education in Developmental Disorders, McGill University, Montréal, Canada. kim.cornish@mcgill.ca
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MeSH Terms
Descriptor/Qualifier:
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:
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:
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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