Results 251 to 260 of about 945,528 (300)

Genetic heterogeneity in acatalasemia

ELECTROPHORESIS, 1996
Abstract203 bp long products containing exon 4 and its juntions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), heteroduplex formation and nucleotide sisters, their family members and normocatalasemic controls were analyzed. Sequence analyses did
L, Góth, A, Páy
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Genetic counseling and genetic heterogeneity in the thalassemias

Clinical Genetics, 1985
In this study, we have compared the hemoglobin A2 levels (Hb A2) of α‐thalassemia carriers (‐α/‐α and ‐α/αα genotypes) with those of double heterozygotes for δ+ and β° thalassemia genes, who were identified by family studies and polymorphic restriction site analysis within the β‐globin gene cluster.
E, Paglietti, R, Galanello, M, Addis, A, Cao   +3 more
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The Genetic Heterogeneity of Uterine Leiomyomata

Obstetrics and Gynecology Clinics of North America, 2006
Research investigating the genetics of UL has already been successful in gathering epidemiologic evidence for heritability, establishing the clonal and mosaic nature of these tumors, correlating genotypic and phenotypic characteristics, defining cytogenetic subgroups, and identifying specific genes involved in tumorigenesis. Although UL are known to be
Lobel, Melissa K, Somasundaram, Priya, Morton, Cynthia C; id_orcid 0000-0003-2198-6756   +2 more
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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 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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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 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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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 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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