| pubmed-article:16456258 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C0560175 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C0086582 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C0032520 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C0025723 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C1524063 | lld:lifeskim |
| pubmed-article:16456258 | lifeskim:mentions | umls-concept:C0332324 | lld:lifeskim |
| pubmed-article:16456258 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:16456258 | pubmed:dateCreated | 2006-2-3 | lld:pubmed |
| pubmed-article:16456258 | pubmed:abstractText | Fragile X syndrome is the most common cause of inherited mental retardation. It is characterized by the progressive expansion of polymorphic (CGG) trinucleotide repeats located in the promoter region of the FMRI gene located at Xq27.3. The typical dysmorphic features that help in diagnosis are very often subtle or absent especially in pre-pubertal children. Confirmation is by molecular diagnosis based on repeat size and methylation analysis of the FMR1 gene. The present study was done to evaluate the utility of a methylation sensitive polymerase chain reaction (ms-PCR) method in the molecular diagnosis of fragile X syndrome in a select group of mentally retarded male children. | lld:pubmed |
| pubmed-article:16456258 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16456258 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16456258 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16456258 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16456258 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16456258 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16456258 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:16456258 | pubmed:issn | 0971-5916 | lld:pubmed |
| pubmed-article:16456258 | pubmed:author | pubmed-author:KarunasagarIn... | lld:pubmed |
| pubmed-article:16456258 | pubmed:author | pubmed-author:KarunasagarId... | lld:pubmed |
| pubmed-article:16456258 | pubmed:author | pubmed-author:PanditLekhaL | lld:pubmed |
| pubmed-article:16456258 | pubmed:author | pubmed-author:KumarSanathS | lld:pubmed |
| pubmed-article:16456258 | pubmed:author | pubmed-author:KarunasagarAn... | lld:pubmed |
| pubmed-article:16456258 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16456258 | pubmed:volume | 122 | lld:pubmed |
| pubmed-article:16456258 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16456258 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16456258 | pubmed:pagination | 429-33 | lld:pubmed |
| pubmed-article:16456258 | pubmed:dateRevised | 2007-11-15 | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:meshHeading | pubmed-meshheading:16456258... | lld:pubmed |
| pubmed-article:16456258 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:16456258 | pubmed:articleTitle | Use of methylation sensitive polymerase chain reaction for detection of fragile X full mutation & carrier state in males. | lld:pubmed |
| pubmed-article:16456258 | pubmed:affiliation | Department of Neurology, KS Hegde Medical Academy, Deralakatte, Mangalore, India. | lld:pubmed |
| pubmed-article:16456258 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16456258 | pubmed:publicationType | Comparative Study | lld:pubmed |
| pubmed-article:16456258 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:2332 | entrezgene:pubmed | pubmed-article:16456258 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:16456258 | lld:entrezgene |
