| Description |
1 online resource (xii, 229 pages) : illustrations (some color) |
| Series |
Monographs in human genetics, 0077-0876 ; v. 15 |
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Monographs in human genetics ; v. 15. 0077-0876
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| Contents |
Why, what, and how can we learn from a rare disease like Fanconi anemia? / Schroeder-Kurth, T. -- Fanconi anemia: a disease with many faces / Dietrich, R., Velleuer, E. -- Milestones in Fanconi anemia research / Digweed, M., Hoehn, H., Sperling K. -- Fanconi anemia genes: structure, mutations, and genotype-phenotype correlations / Kalb, R. [and others] -- Cancer in Fanconi anemia and Fanconi anemia genes in cancer / Neveling, K., Kalb, R., Schindler, D. -- Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: results and implications / Neitzel H. [and others] -- Interphase FISH-assay for the detection of MDS- and AML-associated chromosomal imbalances in native bone marrow and peripheral blood cells / Tönnies, H. [and others] -- Applications of cell cycle testing in Fanconi anemia / Schindler, D. [and others] -- Prenatal diagnosis of Fanconi anemia: functional and molecular testing / Bechtold, A. [and others] -- Revertant mosaicism in Fanconi anemia: natural gene therapy at work / Hoehn, H. [and others] -- Stem cell transplantation in Fanconi anemia, recent advances with alternative donors / Eyrich, M., Winkler, B., Schlegel, P.G. -- Fanconi anemia genes in vertebrates: evolutionary conservation, sex-linkage, and embryonic expression of FANCC and FANCG in avian cells / Nanda, I. [and others] -- Studying homologous recombination in Fanconi anemia / Demuth, I., Digweed, M. -- Functional knock-down of human RAD51 for testing the Fanconi anemia-BRCA connection / Rio, P., Hanenberg, H |
| Summary |
Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure and cellular sensitivity to DNA damaging agents. Following a historical account, exemplary case reports and the current status of FA genes and their mutations, this volume discusses neoplasia in FA as well as current approaches to pre- and postnatal diagnosis. Further topics include revertant mosaicism as a kind of 'natural gene therapy' and hematopo |
| Bibliography |
Includes bibliographical references and indexes |
| Notes |
Print version record |
| Subject |
Fanconi's anemia -- Genetic aspects
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|
Fanconi Anemia -- genetics
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Homologous Recombination
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MEDICAL -- Hematology.
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Fanconi-Anämie -- Aufsatzsammlung.
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| Form |
Electronic book
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| Author |
Schindler, Detlev
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Hoehn, Holger
|
| ISBN |
9783318014617 |
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3318014613 |
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