Results 251 to 260 of about 73,318 (285)
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Multiple sulphatase deficiency in homozygotic twins
Journal of Inherited Metabolic Disease, 1983AbstractMultiple sulphatase deficiency was studied in 3 siblings — one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared.
S, Nevsímalová +3 more
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Stability in development of heterozygotes and homozygotes
Proceedings of the Royal Society of London. Series B - Biological Sciences, 1955Heterozygotes show less variation between repetitive structures of a single individual, or between genetically like individuals, than do homozygotes in a number of naturally outbreeding species of plants and animals. This must generally (though not necessarily always) indicate a greater stability in development of heterozygotes than of homozygotes in ...
J L, JINKS, K, MATHER
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[Homozygotic drépanocytemia (author's transl)].
Medecine tropicale : revue du Corps de sante colonial, 1979A clinical description according to four age groups: before 5 with hand and foot syndrome, hemolytic chronic and sometimes acute anemia; after 5 with frequent surgical-like abdominal syndromes and development troubles; after puberty with patent dystrophia and anemia; adult age group of rare surviving patients.
J, Sirol, R, Laroche, L, Poli
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Homozygote for Huntington disease.
American journal of human genetics, 1991Four offspring of three different Huntington disease (HD) affected x affected matings were assessed by genetic linkage analysis for possible homozygosity. One individual was found to have a 95% likelihood of being an HD homozygote. The homozygote individual had an age at onset and symptoms which were similar to those of affected HD heterozygote ...
R H, Myers +7 more
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Development of Complete Homozygotes of Tobacco
Science, 1963True homozygotes of Nicotiana tabacum L., herein referred to as Ky Iso lines, are being developed from haploids. A technique is described whereby seedlings resulting from fertilization are eliminated, leaving only suspect haploids.
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SCA17 homozygote showing Huntington's disease‐like phenotype
Annals of Neurology, 2004AbstractWe report a homozygous case of spinocerebellar ataxia type 17 with 48 glutamines. The age of the patient at disease onset was not lower than those of heterozygotes with the same CAG‐repeat sizes, but the clinical manifestations were rapidly progressive dementia and chorea.
Yasuko, Toyoshima +8 more
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INBREEDING WITH THE HOMOZYGOTES AT A DISADVANTAGE
Annals of Human Genetics, 1955SummaryThe rate of progress towards homozygosity is calculated for various selection pressures against homozygosity at a given locus, when systematic inbreeding is carried out by selfing, sib mating, half‐sib mating in which a male is mated to two of his half‐sisters who are full sisters, and double first‐cousin mating, under the condition that ...
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Familiäre homozygote Hypercholesterinämie
DMW - Deutsche Medizinische Wochenschrift, 2016Klaus Mellwig +4 more
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