نتایج جستجو برای: dominant
تعداد نتایج: 131946 فیلتر نتایج به سال:
A method is presented for estimating the probability of an affected child being born to a clinically unaffected subject who is at risk for having inherited a rare gene for an autosomal dominant disorder of unknown penetrance. The maximal risk is 8.6% for children of persons at 50% risk for having inherited the mutant gene regardless of the true penetrance of the disorder in question. Applicatio...
We introduce a new hereditary class of graphs, the dominant-matching graphs, and we characterize it in terms of forbidden induced subgraphs.
Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted. We describe a large pedigree with 14 persons in four generations affected with bilateral micropht...
Several examples have come to light in which mutations in non-protein-coding regions give rise to a deleterious gain-of-function by non-coding RNA. Expression of the toxic RNA is associated with formation of nuclear inclusions and late-onset degenerative changes in brain, heart or skeletal muscle. In the best studied example, myotonic dystrophy, it appears that the main pathogenic effect of the...
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