Format:
Online-Ressource (XVI, 717 p. 75 illus., 60 illus. in color, digital)
ISBN:
9783642328640
,
129933556X
,
9781299335561
Series Statement:
SpringerLink
Content:
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. 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 NF1gene, 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.Neurofibromatosis Type 1: Molecular and Cellular Biologywill be of great value to medical geneticists, molecular and cellular biologists, oncologists, dermatologists, neurologists, genetic counsellors and general practitioners alike.
Note:
Description based upon print version of record
,
Neurofibromatosis Type 1; Molecular and Cellular Biology; Foreword; Preface; References; Contents; Chapter 1: von Recklinghausen Disease: 130 Years; 1.1 Introduction; 1.2 History; 1.3 Gene; References; Chapter 2: Clinical Diagnosis and Atypical Forms of NF1; 2.1 Clinical Diagnosis of Neurofibromatosis Type 1; 2.1.1 NF1 Diagnosis in Children Under 5-6 Years; 2.1.1.1 Café-au-Lait Macules; 2.1.1.2 Plexiform Neurofibromas; 2.1.1.3 Pseudarthrosis; 2.1.1.4 Glioma of the Optic Nerve; 2.1.1.5 Other Features of NF1 in Small Children; 2.1.1.6 Mutation Analysis
,
2.1.2 NF1 Diagnosis in Children over 5-6 Years2.1.2.1 Axillary and Inguinal Freckling; 2.1.2.2 Lisch Nodules; 2.1.3 Diagnosis of NF1 in Puberty and in Adults; 2.1.3.1 Neurofibromas; 2.1.4 Differential Diagnosis of NF1; 2.2 Atypical Forms of NF1; 2.2.1 Microdeletion; 2.2.2 Spinal NF; 2.2.3 3-bp Deletion in Exon 17; 2.2.4 Mosaic NF1; 2.2.5 Watson Syndrome; References; Chapter 3: Management and Treatment of ``Complex Neurofibromatosis 1´´; 3.1 Introduction; 3.2 National Health Service Commissioning; 3.3 Development of a Nationally Commissioned ``Complex NF1´´ Service
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3.3.1 Aims of National Complex NF1 Service3.4 Clinical Manifestations of NF1 Included in Complex NF1 Service: Role of the Nationally Commissioned Specialist Teams (Table 3.1); 3.4.1 Extensive Plexiform Neurofibromas (Huson et al. 1988; Ferner et al. 2007); 3.4.2 Spinal Cord Compression Arising from cervical Plexiform Neurofibromas (Leonard et al. 2007); 3.4.3 Neurofibromatous Neuropathy (Ferner et al. 2004; Ferner 2007); 3.4.4 Atypical Neurofibromas and Malignant Peripheral Nerve Sheath Tumour (Ferner and Gutmann 2002; Ferner 2007); 3.4.5 Optic Pathway Glioma (Ferner 2007
,
Listernick et al. 2007)3.4.6 Brain and Spine Glioma (Créange et al. 1999; Ferner 2007); 3.4.7 Refractory Epilepsy Due to Structural Lesion (Ferner 2007; Ferner and Jackson 2011); 3.4.8 Multiple Sclerosis (Ferner et al. 1995; Ferner 2007); 3.4.9 Complex Neurovascular Disease (Leschziner et al. 2012; Rea et al. 2009; Rosser et al. 2005); 3.4.10 Pseudarthrosis of the Long Bones (Crawford and Bagamery 1988; Huson et al. 1988; Ferner et al. 2007); 3.4.11 Sphenoid Wing Dysplasia (Ferner 2007); 3.4.12 Atypical NF1 Phenotypes (Ferner, Huson and Evans 2011)
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3.4.13 Genetic Counselling for Segmental NF1 (Ruggieri and Huson 2001 Maertens et al. 2007; Ferner, Huson and Evans 2011); 3.5 The Complex NF1 Team (Table3.2); 3.6 The NSCT Complex NF1 Service at GSTT 2009-2011; 3.6.1 Demographics of Patients Seen at GSTT; 3.6.2 Deaths April 2009-October 2011 GSTT Complex NF1 Service; 3.7 Clinical Manifestations of Complex NF1: GSTT Experience 2009-2011; 3.7.1 Extensive Plexiform Neurofibromas; 3.7.2 High Cord Compression Due to Cervical Neurofibroma; 3.7.3 Neurofibromatous Neuropathy; 3.7.4 Atypical Neurofibroma
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3.7.5 Malignant Peripheral Nerve Sheath Tumour
Additional Edition:
ISBN 9783642328633
Additional Edition:
Buchausg. u.d.T. Neurofibromatosis type 1 Berlin : Springer, 2012 ISBN 9783642328633
Additional Edition:
ISBN 3642328636
Language:
English
Keywords:
Neurofibromatose
;
Typ 1
;
Aufsatzsammlung
DOI:
10.1007/978-3-642-32864-0
URL:
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