Linked Life Data

14631101

Source:http://linkedlifedata.com/resource/pubmed/id/14631101

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2003-11-21
pubmed:abstractText
Effective counselling and management of retinoblastoma families using genetic information is presently practised in many parts of the world. We studied histopathological, chromosomal and molecular-genetic data of two retinoblastoma patients from India. The two patients, one with bilateral and the other with unilateral retinoblastoma, underwent complete ophthalmic examination, cytogenetic study, retinoblastoma gene (RB1) mutational analysis and RB1 promoter region methylation screening. In the bilateral retinoblastoma patient deletion of chromosome region 13q14 in peripheral blood lymphocytes and a hemizygous novel 8-bp deletion in exon 4 of RB1 in tumour sample were observed. In the unilaterally affected patient CGA to TGA transition protein truncation mutations were observed in exons 8 and 14 of RB1.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0022-1333
pubmed:author
pubmed:issnType
Print
pubmed:volume
82
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
39-44
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:articleTitle
Molecular-genetic analysis of two cases with retinoblastoma: benefits for disease management.
pubmed:affiliation
Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya, Chennai 600 006, India. drgkm@sankaranethralaya.org
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't