Proposita

The female individual through whom a family with a genetic disorder is ascertained. In males this is called a propositus.
National Institutes of Health

Papers overview

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2006
2006
BACKGROUND Thyroid dysgenesis is the most frequent cause of congenital hypothyroidism (CH), and its genetic basis is largely… (More)
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2005
2005
Duplications of the distal long arm of the X chromosome are rare and carrier females are usually phenotypically normal. We report… (More)
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1998
1998
A 12-yr-old hypothyroid girl was diagnosed at birth as athyreotic because her thyroid gland could not be visualized by isotope… (More)
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1996
1996
Recently, a spinal muscular atrophy (SMA) determining gene, termed survival motor neuron (SMN) gene, has been isolated from the… (More)
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1988
1988
An 86-year-old white American woman was found to have a very rare red cell phenotype, the Inab phenotype. Her cells were Cr(a… (More)
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1987
1987
The serum of a pregnant woman whose red cells typed as Co(a-b-) contained an alloantibody that, at the time of the infants… (More)
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1983
1983
This report presents an account of fatal hemolytic disease of the newborn (HDN) due to anti-D in a mother whose red cells showed… (More)
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1980
1980
We report two sibs with the Smith-Lemli-Opitz (RSH) syndrome and intelligence in the borderline normal range. The proposita has… (More)
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1978
1978
A relative of the original Rh proposita, of group R1R2, shows weak expression of his Rh antigens, and is thought to be an Rhnull… (More)
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