Fanconi Anemia: Clinical, Cytogenetic and Experimental Aspects by Traute M. Schr

Description: Fanconi Anemia by Traute M. Schroeder-Kurth, Arleen D. Auerbach, GÜnter Obe This monograph represents the first attempt to gather all aspects of Fanconis anemia in one source. The editors are well-known for their continuous research in the field and have aptly brought together contributions containing the most up-to-date information available. The difficulties in differential diagnosis and treatment are covered; and the outlook for cure via bone marrow transplantation is included. This overview will interest specialists in human genetics as well as all those dealing with this disease. FORMAT Paperback LANGUAGE English CONDITION Brand New Publisher Description Sixty years ago, G. Fanconi published a paper entitled: "Familiiire infantile pemiziosaartige Aniimie (pemizioses Blutbild und Konstitu- tion)", in which he reported that this type of severe aplastic anemia represents a hereditary disease distinct from other pancytopenias of childhood (Fanconi 1927). Later this syndrome was named Fan- coni anemia (FA; van Leeuwen 1933). A more recent study of the genetics of FA confirmed that the syndrome is inherited in an au- tosomal recessive manner (Schroeder et al. 1976). Prenatal diagno- sis in FA families showed that about 25% of fetuses are affected (Auerbach et al. 1985, 1986). In 1964, Schroeder et al. discovered high frequencies of chro- mosomal aberrations in cultured peripheral blood lymphocytes from patients with FA. Schuler et al. (1969) reported that cells from FA patients are particularly sensitive to the chromosome-breaking activity or clastogenic effect of a polyfunctional alkylating agent. Since that time, studies of baseline and induced frequencies of chromosomal aberrations have been used for the identification of patients with FA.There is now a large body of data concerning the possible mechanism(s) underlying the hypersensitivity of FA cells to DNA cross-linking agents, the biochemical basis for which is still unknown. Complementation analysis, using cells from different FA pa- tients, has demonstrated genetic heterogeneity in the syndrome. Notes Springer Book Archives Table of Contents I Clinical and Therapeutical Aspects.- International Fanconi Anemia Registry: First Report.- Fanconi Anemia in The Netherlands.- Clinical Aspects of a Cluster of 42 Patients in South Africa with Fanconi Anemia.- Therapeutic Aspects of Fanconi Anemia.- Bone Marrow Transplantation for Fanconi Anemia.- II Spontaneous and Induced Chromosomal Breakage for Diagnosis of Patients with Fanconi Anemia and Their Relatives.- Diepoxybutane Test for Prenatal and Postnatal Diagnosis of Fanconi Anemia.- Chromosomal Breakage in Response to Cross-linking Agents in the Diagnosis of Fanconi Anemia.- Cytogenetic Studies in Fanconi Anemia: Induced Chromosomal Breakage and Cytogenetics of Leukemia.- Aplastic Anemia and Fanconi Anemia: Response of Lymphocytes to X-Rays and Mitomycin C.- Variation in Cellular Sensitivities Among Fanconi Anemia Patients, Non-Fanconi Anemia-Patients, Their Parents and Siblings, and Control Probands.- Significance of Cellular Sensitivity in a Group of Parents of Fanconi Anemia Patients.- Chromosomal Studies in Fanconi Anemia Heterozygotes.- III Investigations of the Defect in Fanconi Anemia Cells.- BrdU-Hoechst Flow Cytometry Links the Cell Kinetic Defect of Fanconi Anemia to Oxygen Hypersensitivity.- Oxygen Metabolism and Chromosomal Breakage in Fanconi Anemia.- Cellular Effects of Fanconi Anemia Genes and Their Correction by Microinjection.- Phenotypic and Genetic Heterogeneity in Fanconi Anemia, Fate of Cross-Links, and Correction of the Defect by DNA Transfection.- IV Complementation Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia.- Complementation and Gene Transfer Studies in Fanconi Anemia.- Complementation Studies in Fanconi Anemia Using Cell Fusion and Microinjection of mRNA.- V Fanconi Anemia: The Familys Point of View.- FanconiAnemia: The Familys Point of View. Promotional Springer Book Archives Long Description Sixty years ago, G. Fanconi published a paper entitled: "Familiiire infantile pemiziosaartige Aniimie (pemizioses Blutbild und Konstitu Details ISBN3642741819 Short Title FANCONI ANEMIA SOFTCOVER REPRI Language English ISBN-10 3642741819 ISBN-13 9783642741814 Media Book Format Paperback Year 2011 Publication Date 2011-12-10 Imprint Springer-Verlag Berlin and Heidelberg GmbH & Co. K Place of Publication Berlin Country of Publication Germany Edited by GÜnter Obe DEWEY 599.935 Pages 264 Subtitle Clinical, Cytogenetic and Experimental Aspects Illustrations XX, 264 p. DOI 10.1007/978-3-642-74179-1 Author GÜnter Obe Publisher Springer-Verlag Berlin and Heidelberg GmbH & Co. KG Edition Description Softcover reprint of the original 1st ed. 1989 Alternative 9783540504016 Audience Professional & Vocational We've got this At The Nile, if you're looking for it, we've got it. 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