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Homozygosity in three-allele populations
Theoretical Population Biology, 1978Abstract Testing the null hypothesis that mutations are selectively neutral can be carried out using the observed homozygosity (the sum of squares of the allele frequencies). Assuming that the population is statistically stationary and practices random mating, its homozygosity has a probability distribution under the null hypothesis which is free of ...
Watterson, G. A., Perlow, J.
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Dominance and homozygosity in man
American Journal of Medical Genetics, 1983Reflexion selon laquelle la dominance complete n'existe probablement pas dans les maladies genetiques humaines et illustree par un tableau de 11 maladies dominantes a ...
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Hypothesis: Homozygosity in tourette syndrome
American Journal of Medical Genetics, 1989AbstractWe review evidence suggesting that many individuals with Tourette syndrome (TS) may be homozygous for a “Tourette syndrome” gene. This is based on experience with pedigrees on 1,200 TS families, comparison of the occurrence of tics or associated behaviors such as obsessive‐compulsive behavior, panic attacks, attention deficit hyperactivity ...
D E, Comings, B G, Comings, E, Knell
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Homozygosity for inversion (2)(p12q14)
Human Genetics, 1993Two healthy adults, brother and sister, who are homozygotes for inv2(p12q14) are reported. As this is the first report of homozygosity for this inversion the authors ask to be informed of any further known cases.
Z, Gelman-Kohan +3 more
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Homozygosity for Hemochromatosis: Clinical Manifestations
Annals of Internal Medicine, 1980We identified 35 homozygotes for hemochromatosis through pedigree studies. Thirteen were asymptomatic. Arthropathy was present in 20, hepatomegaly in 19, transaminasemia in 16, skin pigmentation in 15, splenomegaly in 14, cirrhosis in 14, hypogonadism in six, and diabetes in two. No homozygote was in congestive failure.
C Q, Edwards +3 more
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Diagnostic approaches to apparent homozygosity
Genetics in Medicine, 2012Sanger sequencing is a mainstay for the identification of gene mutations used in molecular diagnostic laboratories. However, in autosomal recessive disorders, failure of allele amplification can occur for a variety of reasons, leading heterozygous mutations to appear homozygous.
Megan L, Landsverk +6 more
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Homozygosity in Huntington’s disease
Journal of Medical Genetics, 1999Editor—Huntington’s disease (HD) is an autosomal dominant disorder characterised by the association of choreic movements and cognitive/psychiatric changes. In 1993, the HD Collaborative Research Group reported the identification of the IT15 gene, which encodes a protein named huntingtin that carries an unstable and expanded CAG repeat in patients.1 ...
ALEXANDRA DÜRR +5 more
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Evolution of responses to relative homozygosity
Nature, 1976ACCORDING to the theory of kin selection first elaborated by Hamilton1,2, all individual behaviour is selected to maximise the increment to inclusive fitness ΔWi + ΣΔWjrij, where ΔWi is the effect of an act on the fitness of the actor, ΔWj is the effect of the same act on the fitness of a conspecific, and rij is the coefficient of relationship between ...
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The distribution of homozygosity for four alleles
Theoretical Population Biology, 1986The stationary density of homozygosity is obtained for a locus with four possible alleles and symmetric mutation between them. As conjectured by F. M. Stewart (1976, Theoret. Pop. Biol. 9, 188-201) this density has spikes at 1/3 and 1/2. The density under heterozygote selection is also given.
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Parthenogenesis, homozygosity, and cloning in mammals
Journal of Heredity, 1982The numerous strategies for reproduction, sexual and asexual, that have evolved, suggest experimental designs for altering the reproduction of any particular species. The ability to culture and manipulate mammalian eggs and embryos in vitro provides the technological basis for experimentally altering the reproduction of mammals and can lead to the ...
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