| pubmed-article:16691586 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16691586 | lifeskim:mentions | umls-concept:C0175702 | lld:lifeskim |
| pubmed-article:16691586 | lifeskim:mentions | umls-concept:C1868720 | lld:lifeskim |
| pubmed-article:16691586 | pubmed:issue | 12 | lld:pubmed |
| pubmed-article:16691586 | pubmed:dateCreated | 2006-5-31 | lld:pubmed |
| pubmed-article:16691586 | pubmed:abstractText | We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23. | lld:pubmed |
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| pubmed-article:16691586 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16691586 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16691586 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:16691586 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16691586 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:16691586 | pubmed:issn | 1552-4825 | lld:pubmed |
| pubmed-article:16691586 | pubmed:author | pubmed-author:TantravahiUma... | lld:pubmed |
| pubmed-article:16691586 | pubmed:author | pubmed-author:WalshChristop... | lld:pubmed |
| pubmed-article:16691586 | pubmed:author | pubmed-author:SheenVolney... | lld:pubmed |
| pubmed-article:16691586 | pubmed:author | pubmed-author:FerlandRussel... | lld:pubmed |
| pubmed-article:16691586 | pubmed:author | pubmed-author:GaitanisJohn... | lld:pubmed |
| pubmed-article:16691586 | pubmed:author | pubmed-author:ApseKiraK | lld:pubmed |
| pubmed-article:16691586 | pubmed:copyrightInfo | Copyright 2006 Wiley-Liss, Inc. | lld:pubmed |
| pubmed-article:16691586 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16691586 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:16691586 | pubmed:volume | 140 | lld:pubmed |
| pubmed-article:16691586 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16691586 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16691586 | pubmed:pagination | 1305-11 | lld:pubmed |
| pubmed-article:16691586 | pubmed:dateRevised | 2008-9-1 | lld:pubmed |
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| pubmed-article:16691586 | pubmed:year | 2006 | lld:pubmed |
| pubmed-article:16691586 | pubmed:articleTitle | Periventricular nodular heterotopia and Williams syndrome. | lld:pubmed |
| pubmed-article:16691586 | pubmed:affiliation | Department of Biology, Rensselaer Polytechnic Institute, Center for Biotechnology and Interdisciplinary Studies, Troy, New York, USA. | lld:pubmed |
| pubmed-article:16691586 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16691586 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:16691586 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:16691586 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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