1. Edition - April 2010
99.- Euro
2010. XXII, 410 Pages, Hardcover
154 Fig. (60 Colored Fig.), 26 Tab. 
- Handbook/Reference Book -
ISBN-10: 3-527-32201-9
ISBN-13: 978-3-527-32201-5 - Wiley-VCH, Weinheim






Content

Sample Chapter



Short description
The only comprehensive overview of the molecular basis, clinical features and potential treatment of the genetic disorder tuberous sclerosis, which affects some 50,000 people in the US alone. The editors are leading experts in research and treatment of the disease.

From the contents
BASICS
The History of Tuberous Sclerosis Complex (Whittemore)
Natural History of Tuberous Sclerosis Complex and Overview of Manifestations
(Thiele and Jozwiak)
Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana)
GENETICS
Genetics of Tuberous Sclerosis Complex (Kwiatkowski)
Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup)
BASIC SCIENCE
The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning)
Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski)
Animal Models of TSC: Insights from Drosophila (Pan)
BRAIN INVOLVEMENT
Pathogenesis of TSC in the Brain (Crino and Vinters)
Epilepsy in TSC (Thiele and Weiner)
Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko)
Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries)
OTHER ORGAN SYSTEMS
Ophthalmic Manifestations (Agrawal and Fulton)
Dermatologic Manifestations of TSC (Darling, Moss and Mausner)
Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske)
Cardiac and Vascular Manifestations (Józwiak and Respondek-Liberska)
Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske)
Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O?Callaghan and Osborne)
FAMILY IMPACT
Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis)












BASICS
The History of Tuberous Sclerosis Complex (Whittemore)

Natural History of Tuberous Sclerosis Complex and Overview of Manifestations
(Thiele and Jozwiak)

Diagnostic Criteria for Tuberous Sclerosis Complex (Roach and Sparagana)
GENETICS
Genetics of Tuberous Sclerosis Complex (Kwiatkowski)

Genotype-Phenotype Studies in TSC and Molecular Diagnostics (Au and Northrup)
BASIC SCIENCE
The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex (Manning)
Rat and Mouse Models of tuberous Sclerosis (Kwiatkowski)
Animal Models of TSC: Insights from Drosophila (Pan)
BRAIN INVOLVEMENT

Pathogenesis of TSC in the Brain (Crino and Vinters)
Epilepsy in TSC (Thiele and Weiner)
Subependymal Giant Cell Astrocytomas (Franz, Krueger, Balko)

Neurodevelopmental, psychiatric and cognitive aspects of Tuberous Sclerosis Complex (de Vries)

OTHER ORGAN SYSTEMS

Ophthalmic Manifestations (Agrawal and Fulton)

Dermatologic Manifestations of TSC (Darling, Moss and Mausner)

Renal Manifestations of Tuberous Sclerosis Complex (Bissler and Henske)
Cardiac and Vascular Manifestations (Józwiak and Respondek-Liberska)

Lymphangioleiomyomatosis and pulmonary disease in TSC (McCormack and Henske)
Endocrine, Gastrointestinal, Hepatic and Lymphatic Manifestations of Tuberous Sclerosis Complex (O?Callaghan and Osborne)
FAMILY IMPACT
Impact on the Family and Genetic Counseling Issues (Whittemore and Lewis)