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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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Highly Cited
2020
Highly Cited
2020
How will country-based mitigation measures influence the course of the COVID-19 epidemic?
What has happened in China shows that quarantine, social distancing, and isolation of infected populations can contain the… Expand
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Highly Cited
2009
Highly Cited
2009
Long-term outcome of presymptomatic testing in Huntington disease
Our study on long-term outcome of presymptomatic testing for Huntington disease had two aims: the comparison of the psychological… Expand
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Highly Cited
2004
Highly Cited
2004
Adverse effects of predictive testing for Huntington disease underestimated: long-term effects 7-10 years after the test.
The 7-10-year psychological effects of presymptomatic testing for Huntington disease are described in 142 individuals and 104… Expand
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2002
2002
Presymptomatic testing in Huntington's disease and autosomal dominant cerebellar ataxias.
OBJECTIVE To report a 7-year experience of presymptomatic testing in persons at risk for Huntington disease (HD) and to compare… Expand
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Highly Cited
2000
Highly Cited
2000
Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium.
Data on all presymptomatic genetic tests for Huntington's disease (HD) in the UK have been collected over the 10 year period… Expand
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Highly Cited
1997
Highly Cited
1997
Three-year follow-up after presymptomatic testing for Huntington's disease in tested individuals and partners.
The 3-year psychological effects of presymptomatic DNA diagnosis for Huntington's disease are described in 20 identified carriers… Expand
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Highly Cited
1997
Highly Cited
1997
Mutation of the Stargardt Disease Gene (ABCR) in Age-Related Macular Degeneration
Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is… Expand
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Highly Cited
1997
Highly Cited
1997
The use and interpretation of commercial APC gene testing for familial adenomatous polyposis.
BACKGROUND The use of commercially available tests for genes linked to familial cancer has aroused concern about the impact of… Expand
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Highly Cited
1997
Highly Cited
1997
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Age-related macular degeneration (AMD) is the leading cause of severe central visual impairment among the elderly and is… Expand
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1990
1990
Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease.
One hundred forty-one individuals with autosomal dominant polycystic kidney disease (ADPKD) and 137 at-risk individuals from 107… Expand
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