Results 261 to 270 of about 4,320,960 (307)

Genetic Heterogeneity of Icelanders

Annals of Human Genetics, 2003
SummaryRecently statements have been made about a special ‘genetic homogeneity’ of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations.
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Genetic heterogeneity in Duchenne Dystrophy

Annals of Neurology, 1987
AbstractWe evaluated 173 patients in the Clinical Investigation of Duchenne Dystrophy study to determine if patients from the same kindred were more alike clinically than patients within the study population as a whole. A high intrafamilial correlation was noted for age‐adjusted muscle strength scores. While noninherited factors could, in part, explain
C L, Hyser, M, Province, R C, Griggs, J R, Mendell, G M, Fenichel, M H, Brooke, J P, Miller, R, Polakowska, R A, Doherty, S, Quirk   +9 more
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Genetic heterogeneity in Usher syndrome

American Journal of Medical Genetics Part A, 2004
AbstractMutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ‐domain protein), cadherin 23, protocadherin 15, sans (a scaffold‐like protein), usherin and clarin.
Bronya J B, Keats, Sevtap, Savas
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Genetic ascertainment with heterogeneous risk

American Journal of Medical Genetics, 1987
AbstractAnalysis of the bias of ascertainment is reformulated to deal with more general patterns commonly encountered in practice. The goal is to provide a unifying theory that will both replace the traditional, rather piecemeal, treatment of the problem and free it from certain restrictive assumptions.
Edmond A. Murphy, Deborah A. Meyers, Charles A. Rohde, John M. Opitz, James F. Reynolds   +4 more
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Genetic Heterogeneity in Hereditary Thrombophilia

Pathophysiology of Haemostasis and Thrombosis, 2000
Venous 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 hypertrophic cardiomyopathy

International Journal of Cardiology, 1985
We studied the pattern of inheritance of hypertrophic cardiomyopathy among 111 first-degree relatives of 30 patients with the disease. Results of segregation analysis suggest a genetic heterogeneity for hypertrophic cardiomyopathy in that both autosomal dominant and autosomal recessive mode of inheritance can occur.
A. Branzi, G. Romeo, S. Specchia, C. Lolli, G. Binetti, DEVOTO, MARCELLA, M. Bacchi, B. Magnani   +7 more
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Genetic heterogeneity in Malattia Leventinese

Clinical Genetics, 2002
Malattia 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, Parodi MB, Barelle F, CASARI , GIORGIO NEVIO, Ravalico G, Romano M.   +5 more
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Genetic heterogeneity

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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The Genetic Heterogeneity of Hemophilia B

New England Journal of Medicine, 1970
Abstract 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 and the Classification of Alcoholism

Advances in Alcohol & Substance Abuse, 1988
Recent 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, S, Sigvardsson, S B, Gilligan, A L, von Knorring, T, Reich, M, Bohman   +5 more
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