Neurofibromatoses
By: volume editor, Dieter Kaufmann.
Contributors: Kaufmann, Dieter, 1948-
Series: Monographs in human genetics -- v. 16
Publisher: Karger
Published: 2008
Place of publication: Basel; New York
Language: eng
Number of pages: 192
ISBN-13: 9783805585200
Subjects: Neurofibromatosis -- Genetic aspects; Neurofibromatosis; Neurofibromatoses -- genetics; Neurofibromatoses -- physiopathology
Notes: Includes bibliographical references and indexes.
Table of contents: title: The neurofibromatoses: classification, clinical features, and genetic counselling / Huson, S.M.; title: Treatment and management of neurofibromatosis / Mautner, V.-F.; Boltshauser, E.; title: Neurofibromatosis type 1 and other syndromes of the ras pathway / Stevenson, D.A.; Swensen, J.J.; Viskochil, D.H.; title: NF1 gene structure and NF1 genotype/phenotype correlations / Upadhyaya, M.; title: NF1 mutational spectrum / Messiaen, L.M.; Wimmer, K.; title: Clinical phenotypes in patients with NF1 microdeletions / Tinschert, S.; title: Structure of the NF1 gene region and mechanisms underlying gross NF1 deletions / Kehrer Sawatzki, H.; title: NF1 gene evolution in mammals / Assum, G.; Schmegner, C.; title: Structure and function of neurofibromin / Welti, S.; D'Angelo, I.; Scheffzek, K.; title: Composition of neurofibromas, NF1 expression, and comparison of normal and NF1 haploinsufficient cells / Peltonen, J.; Peltonen, S.; title: Somatic NF1 mutations in tumors and other tissues / De Raedt, T. ... [et al.]; title: NF2: mutations and management of disease / Evans, D.G.R.; Wallace, A.; title: Function of merlin in genesis of tumours and other symptoms of NF2 / Hanemann, C.O.; title: Molecular studies on schwannomatosis / Kluwe, L.