Phacomatosis in Japan : epidemiology, clinical picture, and molecular biology
著者
書誌事項
Phacomatosis in Japan : epidemiology, clinical picture, and molecular biology
（Gann monograph on cancer research / Japanese Cancer Association, no. 46）
Japan Scientific Societies Press , Karger, c1999
- : ja
- : sz
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注記
Includes bibliographical references and indexes
内容説明・目次
内容説明
Tuberous sclerosis, neurofibromatosis and von Hippel-Lindau disease are the most well-known examples of phacomatosis, a baffling and complex congenital disease which involves the cutaneous and nervous system and other organs, either simultaneously or consecutively, and frequently leads to neoplastic lesions. This monograph summarizes the recent epidemiological surveys of these diseases in Japan, and analyzes clinical features in relation to possible treatment and pathogenesis. It also presents new information on the molecular epidemiology and pathogenesis of phacomatosis, and on means of improving patients' quality of life. Providing an excellent survey of both basic and clinical aspects of phacomatosis, this book is a valuable source for scientists in various fields including genetics, cancer research, neurology, dermatology and epidemiology.
目次
- Genetic aspects of the Phakomatoses. Tuberous Sclerosis: an overview - the Tuberous Sclerosis complex
- epidemiology of Tuberous Sclerosis in Japan
- genetic and molecular aspects of Tuberous Sclerosis
- molecular epidemiology of Tuberous Sclerosis
- neurological aspects of Tuberous Sclerosis
- pediatric aspects of Tuberous Sclerosis complex
- dermatological aspects and problems in Tuberous Sclerosis
- cellular and molecualr biology of cells from a patient with Tuberous Sclerosis - emphasis on structural abnormality of cytoskeleton
- carcinogenesis in Tuberous Sclerosis. Neurofibromatosis: overview and clinical aspects of Neurofibromatosis 1
- epidemiology of Neurofibromatosis 1 in Japan
- clinical aspects of Neurofibromatosis 2
- molecular biology of Neurofibromatosis 1
- biological aspects of the Neurofibromatosis type 2 gene product
- overview of von Hippel-Landau disease
- germline mutations in the von Hippel-Landau disease gene in Japan, it's epidemiology and molecular genetic study
- clinical aspects of kidney cancers in VHL disease
- von Hippel-Landau disease and associated central nervous Hemangioblastomas
- molecualr genetics of the kidney cancers, implication of the VHL tumor suppressor gene
- molecular biology of the VHL gene.
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