Results 261 to 270 of about 3,275,705 (300)
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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 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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1991
Abstract In Chapter 8, we mentioned that the apparent decrease in the force of infection at older ages, seen in so many of the data, could in part by caused by genetic heterogeneity in response to infection. The importance of this issue was seen in Chapter 9, where we found that estimates of the level of herd immunity required for ...
Roy M Anderson, Robert M May
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Abstract In Chapter 8, we mentioned that the apparent decrease in the force of infection at older ages, seen in so many of the data, could in part by caused by genetic heterogeneity in response to infection. The importance of this issue was seen in Chapter 9, where we found that estimates of the level of herd immunity required for ...
Roy M Anderson, Robert M May
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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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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 in Peptic Ulcer.
Lancet, The, 1979I Michael Samloff +2 more
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Genetic Heterogeneity and the Classification of Alcoholism
Advances in Alcohol & Substance Abuse, 1988Recent progress toward a systematic pathophysiological model of alcoholism has led to identification of two distinct subtypes of alcoholism. These subtypes may be distinguished in terms of distinct alcohol-related symptoms, personality traits, ages of onset, and patterns of inheritance.
C R, Cloninger +5 more
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Genetic heterogeneity of diabetes and HLA
Clinical Genetics, 1982Histocompatibility (HLA) antigens and genotypes B, D and DR were studied in a large sample of Caucasian insulin dependent diabetic (IDD) probands. The associations between IDD and B8, B15, Dw3, Dw4, DR3, and DR4 were measured by relative risks (RR) and delta values (δ). Both the homozygotes (B8/8: RR 10, B 15/15: RR 7, DR3/3: RR32, DR4/4: RR34) and the
J, Barbosa, F H, Bach, S S, Rich
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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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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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