Results 1 to 10 of about 58,203 (304)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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 ...
openaire +2 more sources
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
openaire +1 more source
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.
openaire +2 more sources
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 ...
openaire +2 more sources
Computing probabilities of homozygosity by descent
Genetic Epidemiology, 1999A 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.
openaire +2 more sources
Homozygosity for Waardenburg syndrome.
American journal of human genetics, 1995In a large kindred including many individuals affected with Waardenburg (WS) type 1 (WS1) syndrome, a child affected with a very severe form of WS type 3 was born. This child presented with dystopia canthorum, partial albinism, and very severe upper-limb defects. His parents were first cousins, both affected with a mild form of WS1.
J, Zlotogora +4 more
openaire +1 more source
Dominance and homozygosity in man
American Journal of Medical Genetics, 1984openaire +2 more sources