Propositus

The male individual through whom a family with a genetic disorder is ascertained. In females this is called a proposita.
National Institutes of Health

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2008
2008
BACKGROUND Inactivating LH receptor (LHR) mutations have been described so far in men as well as in women. Phenotypes in men have… (More)
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2001
2001
AIMS To determine the frequencies of four thiopurine S-methyltransferase (TPMT) mutant alleles, TPMT*2, *3A, *3B and *3C in a… (More)
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Highly Cited
2000
Highly Cited
2000
The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. The latter refers to the retention of… (More)
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Review
1998
Review
1998
Mosaicism in germ cells has been recognized, over the past few years, as an important and relatively frequent mechanism at the… (More)
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Highly Cited
1996
Highly Cited
1996
Somatic mosaicism in genetic disease generally results from a de novo deleterious mutation during embryogenesis. We now describe… (More)
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Highly Cited
1995
Highly Cited
1995
Thiopurine S-methyltransferase (TPMT; S-adenosyl-L-methionine:thiopurine S-methyltransferase, EC 2.1.1.67) activity exhibits… (More)
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Highly Cited
1992
Highly Cited
1992
Velo-cardio-facial syndrome (VCFS), an autosomal dominant disorder, is characterized by cleft palate, cardiac defects, learning… (More)
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Highly Cited
1989
Highly Cited
1989
The electron transport system of muscle mitochondria was examined in a familial syndrome of lactacidemia, mitochondrial myopathy… (More)
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Highly Cited
1988
Highly Cited
1988
A female with cystic fibrosis and short stature was investigated for molecular or cytogenetic abnormalities that might explain… (More)
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Highly Cited
1984
Highly Cited
1984
Inherited deficiency in mephenytoin hydroxylation was observed in a family study. It is important that the propositus was of the… (More)
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