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Genetic heterogeneity in Malattia Leventinese
Clinical Genetics, 2002Malattia Leventinese (ML) is a dominant macular dystrophy characterized by drusen at the posterior pole. ML has been associated with a single mutation (R345W) in the EGF‐containing fibulin‐like extracellular matrix protein 1 (EFEMP‐1) gene, but also the EFEMP‐2 gene, known to share genetic homology with EFEMP‐1, is considered a candidate gene for this ...
Toto L +5 more
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The Genetic Heterogeneity of Hemophilia B
New England Journal of Medicine, 1970Abstract At least three genetic variants of hemophilia B exist: a variant with positive crossreacting material associated with a normal oxbrain prothrombin time; one with positive material but with...
P E, Brown, C, Hougie, H R, Roberts
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On the Genetic Heterogeneity of Juvenile Hyperglycemia
1979We have briefly discussed immunogenetic studies of families with hyperglycemia which suggest the existence of at least four types of the disease: a) juvenile, insulin-dependent, ketosis prone diabetes determined by an autosomal recessive gene with 50% penetrance and in linkage with the HLA; b) juvenile, insulin-dependent, ketosis prone diabetes ...
J, Barbosa, M M, Chern
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Genetic Heterogeneity in Hereditary Thrombophilia
Pathophysiology of Haemostasis and Thrombosis, 2000Venous thromboembolism is a multifactorial disease that depends on variable combinations of acquired and genetic risk factors. The genetic risk factors include loss-of-function mutations in the genes that encode proteins with clot-restraining function, and gain-of-function mutations in procoagulant factors.
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Genetic heterogeneity of congenital glaucoma
Clinical Genetics, 1980Analysis of 126 families comprising 205 patients with congenital glaucoma demonstrates that in Gypsies this disease follows the pattern of autosomal recessive inheritance with complete penetrance, while in the non‐Gypsy population, its mode of inheritance is most probably multifactorial.
A, Gencík, A, Gencíková, A, Gerinec
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Genetic heterogeneity of angiogenesis in mice
The FASEB Journal, 2000Many diseases, including cancer, are dependent on the growth of new blood vessels, a process known as angiogenesis. Differences in an individual's ability to grow new blood vessels may influence the rate of progression of these diseases.
R M, Rohan +4 more
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Clinical and genetic heterogeneity in laminopathies
Biochemical Society Transactions, 2011Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed.
Anne T, Bertrand +3 more
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Further genetic heterogeneity in acatalasemia
ELECTROPHORESIS, 1997AbstractA T‐deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan. This mutation, destroying a Hinf1 recognition site, was searched for in Hungarian acatalasemic (2) and hypocatalasemic (22) patients and in controls (27) by Hinf1 digestion and sequence analyses of a 203
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Cystinuria: Genetic Heterogeneity and Allelism
Science, 1966Studies of four stone-forming cystinuric subjects from three unrelated pedigrees indicated that each was heterozygous for two of the three described mutant genes producing cystinuria (I, II, III). Their genotypes were I-II, II-III, I-III, and I-III, respectively.
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