Linked Life Data

16391548

Source:http://linkedlifedata.com/resource/pubmed/id/16391548

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-2-23
pubmed:abstractText
We demonstrate, in a specific scenario, the effect of negative test results from relatives in families at risk for an autosomal dominant hereditary late-onset disorder. A hypothetical pedigree, of a family at risk of Huntington's disease, was used to demonstrate the consequences for the risk status of various family members in the case where relatives have been tested, and found to be mutation negative. We argue that accurate assessment of conditional probabilities in clinical genetics is important for individuals at risk for hereditary disorders with Mendelian transmission patterns; our formulae offer the opportunity -- when simplifying assumptions are met -- to determine the changed risk status of individuals in such cases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0018-067X
pubmed:author
pubmed:issnType
Print
pubmed:volume
96
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
259-61
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Calculating risk changes after negative mutation test outcomes for autosomal dominant hereditary late-onset disorders.
pubmed:affiliation
Department of Medical Psychology and Psychotherapy, Netherlands Institute of Health Sciences, Erasmus MC, PO Box 1738, Rotterdam 3000 DR, The Netherlands. b.bonke@erasmusmc.nl
pubmed:publicationType
Journal Article