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Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Represents the most comprehensive and up to date account of this common neuroectodermal disorder
An outstanding panel of scientists and clinicians covering all aspects of NF1 biology
Lessons learned from the molecular biology of NF1 tumorigenesis can be extrapolated to many other cancers
Includes supplementary material: [...]
Includes supplementary material: [...]
From the Contents: von Recklinghausen disease.- Clinical diagnosis and atypical cases.- Management and treatment of NF1: complex UK NF1 clinics.- Mortality in NF1.- The cognitive profile of NF1 children, therapeutic implications.- Clinical expression of NF1 in monozygotic twins.- Whole body MRI studies in NF1 patients.- Quality of Life in NF1.-
NF1
gene: promoter, 3'UTR and complex features.- Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations.- Splicing mechanisms and mutations in the
NF1
gene.-
NF1
Germline and somatic mosaicism.- Deep intronic
NF1
mutations and possible therapeutic interventions.-
NF1
microdeletions and mutational mechanisms.-
NF1
somatic mutational spectrum.- Social Stigma in NF1.- Personalized Medicine in NF1.- Future Directions - Where do we go from here.
| Erscheinungsjahr: | 2016 |
|---|---|
| Fachbereich: | Andere Fachgebiete |
| Genre: | Mathematik, Medizin, Naturwissenschaften, Technik |
| Rubrik: | Wissenschaften |
| Medium: | Taschenbuch |
| Inhalt: |
xvi
717 S. |
| ISBN-13: | 9783662507179 |
| ISBN-10: | 366250717X |
| Sprache: | Englisch |
| Einband: | Kartoniert / Broschiert |
| Autor: |
Upadhyaya, Meena
Cooper, David N |
| Redaktion: |
Cooper, David N
Upadhyaya, Meena |
| Herausgeber: | Meena Upadhyaya/David N Cooper |
| Auflage: | Softcover reprint of the original 1st edition 2012 |
| Hersteller: |
Springer Berlin
Springer Berlin Heidelberg |
| Verantwortliche Person für die EU: | Springer Verlag GmbH, Tiergartenstr. 17, D-69121 Heidelberg, juergen.hartmann@springer.com |
| Maße: | 235 x 155 x 40 mm |
| Von/Mit: | David N Cooper (u. a.) |
| Erscheinungsdatum: | 23.08.2016 |
| Gewicht: | 1,095 kg |
Represents the most comprehensive and up to date account of this common neuroectodermal disorder
An outstanding panel of scientists and clinicians covering all aspects of NF1 biology
Lessons learned from the molecular biology of NF1 tumorigenesis can be extrapolated to many other cancers
Includes supplementary material: [...]
Includes supplementary material: [...]
From the Contents: von Recklinghausen disease.- Clinical diagnosis and atypical cases.- Management and treatment of NF1: complex UK NF1 clinics.- Mortality in NF1.- The cognitive profile of NF1 children, therapeutic implications.- Clinical expression of NF1 in monozygotic twins.- Whole body MRI studies in NF1 patients.- Quality of Life in NF1.-
NF1
gene: promoter, 3'UTR and complex features.- Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations.- Splicing mechanisms and mutations in the
NF1
gene.-
NF1
Germline and somatic mosaicism.- Deep intronic
NF1
mutations and possible therapeutic interventions.-
NF1
microdeletions and mutational mechanisms.-
NF1
somatic mutational spectrum.- Social Stigma in NF1.- Personalized Medicine in NF1.- Future Directions - Where do we go from here.
| Erscheinungsjahr: | 2016 |
|---|---|
| Fachbereich: | Andere Fachgebiete |
| Genre: | Mathematik, Medizin, Naturwissenschaften, Technik |
| Rubrik: | Wissenschaften |
| Medium: | Taschenbuch |
| Inhalt: |
xvi
717 S. |
| ISBN-13: | 9783662507179 |
| ISBN-10: | 366250717X |
| Sprache: | Englisch |
| Einband: | Kartoniert / Broschiert |
| Autor: |
Upadhyaya, Meena
Cooper, David N |
| Redaktion: |
Cooper, David N
Upadhyaya, Meena |
| Herausgeber: | Meena Upadhyaya/David N Cooper |
| Auflage: | Softcover reprint of the original 1st edition 2012 |
| Hersteller: |
Springer Berlin
Springer Berlin Heidelberg |
| Verantwortliche Person für die EU: | Springer Verlag GmbH, Tiergartenstr. 17, D-69121 Heidelberg, juergen.hartmann@springer.com |
| Maße: | 235 x 155 x 40 mm |
| Von/Mit: | David N Cooper (u. a.) |
| Erscheinungsdatum: | 23.08.2016 |
| Gewicht: | 1,095 kg |
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