Results 121 to 130 of about 172,226 (152)
The impact of phenotypic heterogeneity on fungal pathogenicity and drug resistance [PDF]
FEMS Microbiology ReviewsJudith Berman +2 more
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Phenotypic heterogeneity in acute leukemia
Clinica Chimica Acta, 1992Although neoplastic hematopoietic cells usually display a phenotype consistent with some stage of normal development, a significant number of leukemia cases express a combination of cell surface and other markers rarely found in normal cells. Many terms have been used to describe atypical leukemia phenotypes (lineage infidelity, lineage promiscuity ...
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Intrafamilial phenotypic and genetic heterogeneity of dystonia
Journal of the Neurological Sciences, 2006Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene. We describe a large Serbian family with significant intrafamilial variability of the DYT1 phenotype, from asymptomatic carrier status to late-onset focal, and generalized jerky dystonia.
Vladimir S, Kostić +9 more
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Phenotypic Heterogeneity and Metastasis
1989The movement of tumor cells from a primary neoplasm to distant organs and the subsequent outgrowth of metastases is the most devastating aspect of cancer. Metastasis is defined as “the transfer of disease from one organ, or part, to another not directly connected to it.
James E. Talmadge, I. J. Fidler
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Microbial phenotypic heterogeneity and antibiotic tolerance
Current Opinion in Microbiology, 2007Phenotypic heterogeneity, defined as metastable variation in cellular parameters generated by epigenetic mechanisms, is crucial for the persistence of bacterial populations under fluctuating selective pressures. Diversity ensures that some individuals will survive a potentially lethal stress, such as an antibiotic, that would otherwise obliterate the ...
Neeraj, Dhar, John D, McKinney
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Phenotypic and Genotypic Heterogeneity of RRM2B Variants
Neuropediatrics, 2017Objectives Genotype and phenotype of RRM2B mutation have become increasingly heterogeneous. This review aims at summarizing recent advances concerning the genotypic and phenotypic variability of RRM2B mutations. Method The review evaluated clinical and instrumental data of 82 patients carrying a mutation in the RRM2B gene ...
Josef, Finsterer, Sinda, Zarrouk-Mahjoub
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Dyslexia: Search for phenotypic and genetic heterogeneity
American Journal of Medical Genetics, 1978AbstractDyslexia, or specific reading disability, has been shown in many studies to be familial, though no simple mode of inheritance accounts for all pedigrees. It is likely that the difficulties of genetic analysis are due to heterogeneity within the phenotype.
Gilbert S. Omenn +2 more
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Genotype and Phenotype Heterogeneity in Perrault Syndrome
Journal of Pediatric and Adolescent Gynecology, 2013The hallmarks of Perrault syndrome are progressive sensorineural hearing loss and ovarian dysgenesis, but the disorder is both clinically and genetically heterogenous.We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. We detected 14
Min Jeong, Kim +5 more
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Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders
2003Peroxisomes perform a multitude of biosynthetic and catabolic functions, many of which are related to lipid metabolism. Peroxisomal disorders result either from deficiency of a single peroxisomal enzyme or protein, or from a defect in the complex mechanism of peroxisomal biogenesis, resulting in deficiency of several or multiple peroxisomal functions ...
Hanna, Mandel, Stanley H, Korman
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Mechanisms determining phenotypic heterogeneity of hepatocytes
Biochemistry (Moscow), 2008This review summarizes results of biochemical and immunohistochemical studies indicating the existence of functional heterogeneity of hepatocytes depending on their localization in the hepatic acinus; this determines characteristic features of metabolism of carbohydrates, lipids, and xenobiotics.
I F, Usynin, L E, Panin
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