Results 181 to 190 of about 43,307 (224)
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Psychiatric findings in Wolfram syndrome homozygotes
The Lancet, 1990Diabetes mellitus and bilateral optic atrophy are the defining characteristics of the autosomal recessive Wolfram syndrome. Diabetes insipidus, neurogenic bladder, deafness, and other neurological manifestations are frequent. A review was made of the medical records of 68 Wolfram syndrome patients, aged between 8 and 43 years, identified by casefinding
R G, Swift, D B, Sadler, M, Swift
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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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Studies on the blood of an MiV homozygote
Transfusion, 1981An individual, whose parents are third cousins, has been shown to be homozygous for the rare Mi.V. condition. The proposita's red blood cells type as M−, N+(weak), S−, s+(strong), U+, Mi(a−), Vw−, Hil+; Wr(a− b−). The cells react, albeit less strongly than most other samples, with anti‐Ena.
V, Vengelen-Tyler +8 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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Klinische Wochenschrift, 1973
Bei der systematischen Untersuchung von 26 Familien von Patienten, die als Nebenbefund eine Bisalbuminamie aufwiesen, wurde eine gesunde homozygote Merkmalstragerin mit Alloalbumin B (AlB/AlB) entdeckt. Auserdem fanden wir ofter transitorische, nicht familiare Bisalbuminamie.
H. Ott, St. Sandk�hler, B. Feinauer
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Bei der systematischen Untersuchung von 26 Familien von Patienten, die als Nebenbefund eine Bisalbuminamie aufwiesen, wurde eine gesunde homozygote Merkmalstragerin mit Alloalbumin B (AlB/AlB) entdeckt. Auserdem fanden wir ofter transitorische, nicht familiare Bisalbuminamie.
H. Ott, St. Sandk�hler, B. Feinauer
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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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Bisalbuminemia of the fast type with a homozygote
Clinica Chimica Acta, 1967Abstract Bisalbuminemia of the fast type has been found on electrophoresis of serum in 15 of 38 members on an Indian family. A member homozygous for the alleles for the fast albumin has been observed. The anomaly appears to be controlled by autosomal codominant alleles acting at a single locus.
H.E. Bell, S.F. Nicholson, Z.K. Thompson
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Sphingolipidoses: Detection of Heterozygotes and Homozygotes
1972Recent progress has made it possible to detect homozygotes and heterozygotes for many of the sphingolipidoses by assays of specific enzymes in tissues and body fluids. These assays are of importance in the differentiation of disorders which are phenotypically similar.
J. S. O’Brien +5 more
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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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