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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

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2013
2013
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of… 
Highly Cited
2008
Highly Cited
2008
Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also… 
1996
1996
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
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
An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data… 
1992
1992
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
Huntington disease (HD) is an adultonset, genetic disorder with major psychosocial implications. Although many of the psychiatric… 
Highly Cited
1987
Highly Cited
1987
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
To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage…