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Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study. [PDF]
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The Genetic Heterogeneity of “Schizophrenia”
The World Journal of Biological Psychiatry, 2000The main reason for the inconsistent findings in schizophrenia research is the lack of diagnostic conformity. This has not changed markedly following the introduction of modern operational diagnostic systems. Taking schizophrenia as a disease entity or assuming schizophrenia spectrum psychoses to represent a continuum of diseases without any clear ...
H, Beckmann, E, Franzek
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Genetic heterogeneity in acatalasemia
ELECTROPHORESIS, 1996Abstract203 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, 1985In 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 +3 more
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The Genetic Heterogeneity of Uterine Leiomyomata
Obstetrics and Gynecology Clinics of North America, 2006Research 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 +2 more
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Genetic Heterogeneity of Icelanders
Annals of Human Genetics, 2003SummaryRecently 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, 1987AbstractWe 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 +9 more
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Genetic heterogeneity in Usher syndrome
American Journal of Medical Genetics Part A, 2004AbstractMutations 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, 1987AbstractAnalysis 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 +4 more
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