Skip to search formSkip to main contentSkip to account menu

Presymptomatic Testing

Genetic analysis of an asymptomatic or unaffected individual who is at risk of a specific genetic disorder.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of… 
Highly Cited
2008
Highly Cited
2008
A database to support the interpretation of human mismatch repair gene variants
Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also… 
Review
2002
Review
2002
Newborn screening as a model for population screening.
1996
1996
Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.
Huntington's disease is a neuropsychiatric disorder with late age of onset, caused by an elongation of a (CAG)n repeat in the… 
1996
1996
Selection for presymptomatic testing for Huntington's disease: who decides?
I was interested to read the report of Goodship et al (J Med Genet 1995;32:746-8) of monozygotic (MZ) twins with a 22ql deletion… 
1993
1993
Ethical and social issues in presymptomatic testing for Huntington's disease: a European Community collaborative study. European Community Huntington's Disease Collaborative Study Group.
An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data… 
1992
1992
Presymptomatic Testing for Huntington's Disease in Wales 1987–90
Between 1987 and 1990 a large series of at-risk individuals has been referred to our Huntington's disease (HD) presymptomatic… 
Highly Cited
1989
Highly Cited
1989
Social system responses to Huntington disease.
Huntington disease (HD) is an adultonset, genetic disorder with major psychosocial implications. Although many of the psychiatric… 
Highly Cited
1987
Highly Cited
1987
Psychiatric implications of presymptomatic testing for Huntington's disease.
Responses of 69 at-risk individuals suggest that potential for psychiatric problems exists for those testing positive for the… 
Highly Cited
1985
Highly Cited
1985
Huntington's disease: two families with differing clinical features show linkage to the G8 probe.
To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)