Linked Life Data

16606884

Source:http://linkedlifedata.com/resource/pubmed/id/16606884

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2006-4-11
pubmed:abstractText
To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
552-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:16606884-Adolescent, pubmed-meshheading:16606884-Adult, pubmed-meshheading:16606884-Blepharoptosis, pubmed-meshheading:16606884-Child, pubmed-meshheading:16606884-Child, Preschool, pubmed-meshheading:16606884-Codon, Nonsense, pubmed-meshheading:16606884-De Lange Syndrome, pubmed-meshheading:16606884-Eye Diseases, pubmed-meshheading:16606884-Female, pubmed-meshheading:16606884-Frameshift Mutation, pubmed-meshheading:16606884-Genotype, pubmed-meshheading:16606884-Humans, pubmed-meshheading:16606884-Infant, pubmed-meshheading:16606884-Lacrimal Duct Obstruction, pubmed-meshheading:16606884-Male, pubmed-meshheading:16606884-Mutation, Missense, pubmed-meshheading:16606884-Myopia, pubmed-meshheading:16606884-Phenotype, pubmed-meshheading:16606884-Proteins, pubmed-meshheading:16606884-Retrospective Studies, pubmed-meshheading:16606884-Strabismus
pubmed:year
2006
pubmed:articleTitle
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study.
pubmed:affiliation
Division of Ophthalmology, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural