Linked Life Data

9949443

Source:http://linkedlifedata.com/resource/pubmed/id/9949443

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
13
pubmed:dateCreated
1999-3-26
pubmed:abstractText
Huntington's disease (HD) is an autosomal dominant disease characterized by motor disturbance, cognitive loss and psychiatric manifestations, starting between the fourth and the fifth decade, followed by death within 10-20 years of onset of the disease. The disease-causing mutation is an expansion of a CAG triplet repeat at the 5' coding end of the Huntington gene. We have developed a single-cell PCR assay for the HD gene in order to propose preimplantation genetic diagnosis (PGD) for the couples at risk. We present here our first results with our first nine PGD cycles and also discuss the behaviour of the disease-causing expansion in pre-implantation embryos.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1427-36
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos.
pubmed:affiliation
Centre for Medical Genetics, University Hospital and Medical School Dutch-speaking Brussels Free University, Belgium.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't