Results 261 to 270 of about 1,113,115 (292)

Phenotypic heterogeneity in acute leukemia

Clinica Chimica Acta, 1992
Although 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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Phenotypic and Genotypic Heterogeneity of RRM2B Variants

Neuropediatrics, 2017
Objectives 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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Phenotypic Heterogeneity and Metastasis

1989
The 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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Dyslexia: Search for phenotypic and genetic heterogeneity

American Journal of Medical Genetics, 1978
AbstractDyslexia, 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, Bruce A. Weber, Judith G. Hall   +2 more
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Phenotypic Heterogeneity in Multiple Myeloma Families

Journal of Clinical Oncology, 2005
Purpose To describe a series of families with familial multiple myeloma (MM). Observations were used to generate hypotheses about the role of genetic factors, the mode of inheritance of these factors, and the association of other cancers with familial MM.
Henry T, Lynch, Patrice, Watson, Stefano, Tarantolo, Peter H, Wiernik, Brigid, Quinn-Laquer, Karin, Isgur Bergsagel, Laetitia, Huiart, O I, Olopade, Hagay, Sobol, Warren, Sanger, David, Hogg, Dennis, Weisenburger   +11 more
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Genotype and Phenotype Heterogeneity in Perrault Syndrome

Journal of Pediatric and Adolescent Gynecology, 2013
The 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, Sa Jin, Kim, Jiyeon, Kim, Hyojin, Chae, Myungshin, Kim, Yonggoo, Kim   +5 more
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Mechanisms determining phenotypic heterogeneity of hepatocytes

Biochemistry (Moscow), 2008
This 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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Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders

2003
Peroxisomes 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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Intrafamilial phenotypic and genetic heterogeneity of dystonia

Journal of the Neurological Sciences, 2006
Most 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, Marina, Svetel, Kemal, Kabakci, Aleksandar, Ristić, Igor, Petrović, Birgitt, Schüle, Norman, Kock, Ana, Djarmati, Stanka, Romac, Christine, Klein   +9 more
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Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

New England Journal of Medicine, 1991
Phenylketonuria is a metabolic disorder that results from a deficiency of the hepatic enzyme phenylalanine hydroxylase. Its clinical phenotype varies widely, and to date more than 10 mutations in the phenylalanine hydroxylase gene have been identified in persons with the disorder.
Yoshiyuki Okano, Randy C. Eisensmith, Flemming Güttler, Uta Lichter-Konecki, David S. Konecki, Friedrich K. Trefz, Mary Dasovich, Tao Wang, Karen Henriksen, Hans Lou, Savio L.C. Woo   +10 more
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