Linked Life Data

10023315

Source:http://linkedlifedata.com/resource/pubmed/id/10023315

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1999-2-25
pubmed:abstractText
RB1 gene constitutional mutations were studied using 'exon-by-exon' sequencing in a series of 17 patients with sporadic unilateral retinoblastomas. Constitutional de novo germline mutations were detected in 4 patients. The age at diagnosis of retinoblastoma in all these cases was lower (mean 10.8 months; range 5-18) than in cases in which constitutional mutations were not found (mean 31.7 months; range 19-42). These results strongly indicate that age at retinoblastoma diagnosis may be a major factor for discriminating patients for whom a search for RB1 gene constitutional mutations could be justifiable in sporadic unilateral retinoblastomas.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0959-8049
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1919-21
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma.
pubmed:affiliation
Department of Genetics and Pathology, Pomeranian Medical University, Poland.
pubmed:publicationType
Journal Article