Linked Life Data

17506092

Source:http://linkedlifedata.com/resource/pubmed/id/17506092

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2007-5-28
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.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1552-4825
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
143A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1313-6
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Comprehensive EMX2 genotyping of a large schizencephaly case series.
pubmed:affiliation
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA.
pubmed:publicationType
Journal Article, Research Support, N.I.H., Extramural