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Clinical relevance of heterozygosis for aceruloplasminemia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2019
Aceruloplasminemia is a rare form of brain iron overload of autosomal recessive inheritance that results from mutations in the CP gene, encoding the iron oxidase ceruloplasmin. Homozygous aceruloplasminemia causes progressive neurodegenerative disease, anemia, and diabetes, and is usually diagnosed late in life upon investigation of anemia, high ...
Marina Dorigatti Borges   +4 more
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Search of heterozygosis in quantitative characters

Annals of Human Genetics, 1978
SummaryA method is described of searching for heterozygotes in a quantitative character, based on the idea that heterozygotes have more variable children than homozygotes. The variability in a set of sibs is therefore partitioned into components from the mother and father, using a least squares technique; a large component indicates a probably ...
C A, Smith, D Z, Loesch, A, Bener
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The theory of inbreeding with forced heterozygosis

Journal of Genetics, 1935
When a foreign gene is being bred into a pure line, or when a population with a lethal gene, incomplete sex linkage, heterostylism, or self-sterility is being inbred, the population is kept heterozygous for a particular gene or chromosome segment, but otherwise inbred.
M. S. Bartlett, J. B. S. Haldane
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A Case of Haemoglobin J Sardegna/β-ThaIassaemia Double Heterozygosis

Acta Haematologica, 2009
Clinical and haematological findings of a Sardinian family are described. Three members were carriers of Hb J Sardegna, 5 were heterozygous for β-thalassaemia and 2 were double heterozygous for Hb J Sardegna and β-thalassaemia. The presence of Hb J Sardegna did not give rise to appreciable changes in the haematological picture: heterozygous carries ...
E, Gallo   +5 more
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Structural heterozygosis in man: analysis of two families

Annals of Human Genetics, 1962
SummaryTwo families are described in each of which the father is presumed to have an autosomal reciprocal translocation as a result of which both children in one family, and one of three children in the other, are grossly abnormal. The reciprocal translocations are probably between chromosomes nos. 9 and 4 in the first family, and chromosomes nos.
J. H. EDWARDS   +5 more
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Polyembryony, heterozygosis and chimeras in citrus

Hilgardia, 1926
Abstract does not appear. First page follows. Introduction The genus Citrus is characterized by remarkable genetic variability, both in seed reproduction and within clonal varieties. An F1 hybrid progeny usually exhibits great genetic diversity (Swingle, 1913a), suggesting the F2 generation from a cross between races differing in ...
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Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency

Human Genetics, 1979
The defective PK variant of a patient with a severe form of hemolytic anemia was characterized by its inability to undergo a normal 'proteolytic maturation.' In obligatory heterozygotes it could be proved that red cells contained different PK species, some of them sensitive and the others partially resistant to the action of trypsin.
A, Kahn, J, Marie, J L, Vives-Corrons
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Heterozygosis and genetic recombination in herpes simplex type 1 virus

Virology, 1977
Abstract Two- and three-factor crosses with temperature-sensitive (ts) and syncytial plaque morphology (syn) mutants of herpes simplex type 1 virus have been used to study the possible role of syn-syn+ mixed plaque-forming virus in genetic recombination.
D A, Ritchie   +3 more
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Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

Hämostaseologie, 2009
SummaryA 14 year old boy was referred to us for a detailed coagulation study because a previously performed aPTT has been found prolonged. The boy had no history of bleeding symptoms and also the family history was negative for bleeding or thrombotic events. The aPTT in the patient was 96 s (reference range: 24–36 s), prothrombin time and thrombin time
Bernhard, Maak   +3 more
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Heterozygosis and Breeding

2017
The penultimate aim of any breeding programme is to derive a clone with enhanced dry rubber yield (g tree−1 tap−1) and, if possible, with improved secondary attributes like resistance to diseases and high/low temperature stresses. The efficient use of the available genetic variability in the form of clones is further augmented through bud grafting ...
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