Results 281 to 290 of about 80,852 (330)

Homozygosity of Chromosome 13 in Retinoblastoma

New England Journal of Medicine, 1984
We studied the frequency of chromosome 13 homozygosity in tumor tissue obtained directly from eyes harboring retinoblastomas. The data indicate that approximately half of all retinoblastomas are homozygous for large portions of 13q, that the homozygosity occurs in vivo and not as an event secondary to culture of the tumor cells, that chromosome 13 ...
T P, Dryja, W, Cavenee, R, White, J M, Rapaport, R, Petersen, D M, Albert, G A, Bruns   +6 more
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Homozygosity and S Gene Mutation

Nature, 1959
THE S locus governing gametophytic self-incompatibility in plants is particularly suited to mutation studies. Pollen grains having an unmutated allele are unable to grow through a style carrying the same allele. In contrast ‘mutant’ grains produce pollen-tubes which may overcome the incompatibility barrier.
J L, BREWBAKER, N, SHAPIRO
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Homozygosity for inversion (2)(p12q14)

Human Genetics, 1993
Two 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, J, Rosensaft, R N, Ben-Cohen, J, Chemke   +3 more
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Homozygosity for Hemochromatosis: Clinical Manifestations

Annals of Internal Medicine, 1980
We 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, G E, Cartwright, M H, Skolnick, D B, Amos   +3 more
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Diagnostic approaches to apparent homozygosity

Genetics in Medicine, 2012
Sanger 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, Ganka V, Douglas, Sha, Tang, Victor W, Zhang, Guo-Li, Wang, Jing, Wang, Lee-Jun C, Wong   +6 more
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Evolution of responses to relative homozygosity

Nature, 1976
ACCORDING 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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Homozygosity in Huntington’s disease

Journal of Medical Genetics, 1999
Editor—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, VALÉRIE HAHN-BARMA, ALEXIS BRICE, CHRISTOPHE PÊCHEUX, CATHERINE DODÉ, JOSUÉ FEINGOLD   +5 more
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Parthenogenesis, homozygosity, and cloning in mammals

Journal of Heredity, 1982
The 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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Computing probabilities of homozygosity by descent

Genetic Epidemiology, 1999
A person is autozygous at a locus if the person inherits the same allele twice identical by descent along two distinct paths from the same ancestor. Autozygosity is a common cause of recessive diseases in inbred populations. Homozygosity mapping uses this fact to locate the genes that cause recessive diseases.
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The distribution of homozygosity for four alleles

Theoretical Population Biology, 1986
The 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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