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Published by Springer Berlin Heidelberg, 2012
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Taschenbuch. Condition: Neu. Fanconi Anemia | Clinical, Cytogenetic and Experimental Aspects | Traute M. Schroeder-Kurth (u. a.) | Taschenbuch | xx | Englisch | 2011 | Springer | EAN 9783642741814 | Verantwortliche Person für die EU: Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg, juergen[dot]hartmann[at]springer[dot]com | Anbieter: preigu.
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Published by Springer Berlin Heidelberg, 2011
ISBN 10: 3642741819 ISBN 13: 9783642741814
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Taschenbuch. Condition: Neu. Druck auf Anfrage Neuware - Printed after ordering - 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.
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Published by Springer Berlin Heidelberg 1989-01-01, 1989
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Published by Springer Berlin Heidelberg Dez 2011, 2011
ISBN 10: 3642741819 ISBN 13: 9783642741814
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Taschenbuch. Condition: Neu. This item is printed on demand - it takes 3-4 days longer - Neuware -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. 288 pp. Englisch.
Language: English
Published by Springer Berlin Heidelberg, 2011
ISBN 10: 3642741819 ISBN 13: 9783642741814
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Condition: New. Dieser Artikel ist ein Print on Demand Artikel und wird nach Ihrer Bestellung fuer Sie gedruckt. 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 .
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Language: English
Published by Springer, Springer Dez 2011, 2011
ISBN 10: 3642741819 ISBN 13: 9783642741814
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Taschenbuch. Condition: Neu. This item is printed on demand - Print on Demand Titel. Neuware -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 Family's Point of View.- FanconiAnemia: The Family's Point of View.Springer-Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg 288 pp. Englisch.