| pubmed-article:17506092 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17506092 | lifeskim:mentions | umls-concept:C0266484 | lld:lifeskim |
| pubmed-article:17506092 | lifeskim:mentions | umls-concept:C1414394 | lld:lifeskim |
| pubmed-article:17506092 | lifeskim:mentions | umls-concept:C1285573 | lld:lifeskim |
| pubmed-article:17506092 | lifeskim:mentions | umls-concept:C0150093 | lld:lifeskim |
| pubmed-article:17506092 | lifeskim:mentions | umls-concept:C1880156 | lld:lifeskim |
| pubmed-article:17506092 | pubmed:issue | 12 | lld:pubmed |
| pubmed-article:17506092 | pubmed:dateCreated | 2007-5-28 | lld:pubmed |
| pubmed-article:17506092 | pubmed:abstractText | Schizencephaly is a brain malformation disorder characterized by one or more full-thickness clefts through the cerebral cortex. While initial reports suggested that EMX2 mutations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause of this malformation. To determine the frequency of EMX2 mutations in patients with schizencephaly, we sequenced EMX2 in a cohort of 84 affected probands. No pathologic mutations were identified in this cohort, suggesting that EMX2 mutations are an uncommon cause of schizencephaly. | lld:pubmed |
| pubmed-article:17506092 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17506092 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17506092 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17506092 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17506092 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:17506092 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17506092 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17506092 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:17506092 | pubmed:issn | 1552-4825 | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:BarkovichA... | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:ShawGary MGM | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:WalshChristop... | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:LammerEdward... | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:ChangBernard... | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:TietjenIanI | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:BodellAdriaA | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:ApseKiraK | lld:pubmed |
| pubmed-article:17506092 | pubmed:author | pubmed-author:MendonzaAshle... | lld:pubmed |
| pubmed-article:17506092 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17506092 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:17506092 | pubmed:volume | 143A | lld:pubmed |
| pubmed-article:17506092 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17506092 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17506092 | pubmed:pagination | 1313-6 | lld:pubmed |
| pubmed-article:17506092 | pubmed:dateRevised | 2008-5-21 | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:meshHeading | pubmed-meshheading:17506092... | lld:pubmed |
| pubmed-article:17506092 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17506092 | pubmed:articleTitle | Comprehensive EMX2 genotyping of a large schizencephaly case series. | lld:pubmed |
| pubmed-article:17506092 | pubmed:affiliation | Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA. | lld:pubmed |
| pubmed-article:17506092 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17506092 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
| entrez-gene:2018 | entrezgene:pubmed | pubmed-article:17506092 | lld:entrezgene |
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