| Periventricular heterotopia in fragile X syndrome. | |
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MedLine Citation:
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PMID: 16924033 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene (FMR1) and periventricular heterotopia (PH). This observation suggests that the FMR1 gene is involved in neuronal migration and that abnormal neuronal migration, even beyond the resolution of MRI, contributes to the neurologic phenotype of FXS. |
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Authors:
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F Moro; T Pisano; B Dalla Bernardina; R Polli; A Murgia; L Zoccante; F Darra; A Battaglia; T Pramparo; O Zuffardi; R Guerrini |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Neurology Volume: 67 ISSN: 1526-632X ISO Abbreviation: Neurology Publication Date: 2006 Aug |
Date Detail:
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Created Date: 2006-08-22 Completed Date: 2006-09-13 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 0401060 Medline TA: Neurology Country: United States |
Other Details:
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Languages: eng Pagination: 713-5 Citation Subset: AIM; IM |
Affiliation:
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IRCCS Fondazione Stella Maris, Pisa, Italy. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/309550 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Brain Diseases / pathology* Cerebral Ventricles / pathology* Child, Preschool Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / genetics*, pathology* Genetic Predisposition to Disease / genetics Humans Male |
| Grant Support | |
ID/Acronym/Agency:
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GGP05177//Telethon |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 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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