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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
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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
L. Schuler‐Faccini
,
Claudio Maria Osorio
,
Flavia Romariz
,
M. Paneque
,
J. Sequeiros
,
L. Jardim
Genetics and Molecular Biology
2013
Corpus ID: 2706953
Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of…
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Highly Cited
2008
Highly Cited
2008
A database to support the interpretation of human mismatch repair gene variants
J. Ou
,
R. Niessen
,
J. Vonk
,
H. Westers
,
R. Hofstra
,
R. Sijmons
Human Mutation
2008
Corpus ID: 11396354
Germline mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2 can cause Lynch syndrome. This syndrome, also…
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Review
2002
Review
2002
Newborn screening as a model for population screening.
L. Mccabe
,
E. McCabe
Molecular Genetics and Metabolism
2002
Corpus ID: 1580805
1996
1996
Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis.
A. Sánchez
,
S. Castellví-Bel
,
+4 authors
X. Estivill
Journal of Neurology Neurosurgery & Psychiatry
1996
Corpus ID: 22157942
Huntington's disease is a neuropsychiatric disorder with late age of onset, caused by an elongation of a (CAG)n repeat in the…
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1996
1996
Selection for presymptomatic testing for Huntington's disease: who decides?
J. Binedell
,
J. Soldán
,
P. Harper
Journal of Medical Genetics
1996
Corpus ID: 26416220
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…
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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.
D. Ball
,
P. Harper
,
+6 authors
A. Jacopini
Journal of Medical Genetics
1993
Corpus ID: 1792742
An analysis of social and ethical aspects of presymptomatic testing for Huntington's disease has been carried out, based on data…
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1992
1992
Presymptomatic Testing for Huntington's Disease in Wales 1987–90
A. Tyler
,
M. Morris
,
L. Lazarou
,
L. Meredith
,
J. Myring
,
P. Harper
British Journal of Psychiatry
1992
Corpus ID: 25415395
Between 1987 and 1990 a large series of at-risk individuals has been referred to our Huntington's disease (HD) presymptomatic…
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Highly Cited
1989
Highly Cited
1989
Social system responses to Huntington disease.
S. Kessler
,
M. Bloch
Family Process
1989
Corpus ID: 334073
Huntington disease (HD) is an adultonset, genetic disorder with major psychosocial implications. Although many of the psychiatric…
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Highly Cited
1987
Highly Cited
1987
Psychiatric implications of presymptomatic testing for Huntington's disease.
S. Kessler
American Journal of Orthopsychiatry
1987
Corpus ID: 31612554
Responses of 69 at-risk individuals suggest that potential for psychiatric problems exists for those testing positive for the…
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Highly Cited
1985
Highly Cited
1985
Huntington's disease: two families with differing clinical features show linkage to the G8 probe.
SE Folstein
,
John A. Phillips
,
+8 authors
W. Hobbs
Science
1985
Corpus ID: 23465348
To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage…
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