UID:
almafu_9959327997602883
Format:
1 online resource (xxi, 409 pages) :
,
illustrations (some color)
ISBN:
9783527630073
,
3527630074
,
9783527630080
,
3527630082
,
1283140446
,
9781283140447
Content:
This book provides a comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis. Special focus is placed on novel insights into the signal transduction pathways affected by the disease and genotype phenotype correlations. Existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease. Dr. Vicky Holets Whittemore is, for example, the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the USA.: The only comprehensive title o.
Note:
Front Matter -- Basics. The History of Tuberous Sclerosis Complex / Vicky H Whittemore -- Natural History of Tuberous Sclerosis Complex and Overview of Manifestations / Elizabeth A Thiele, Sergiusz J̤zzwiak -- Diagnostic Criteria for Tuberous Sclerosis Complex / E Steve Roach, Steven P Sparagana -- Genetics. Genetics of Tuberous Sclerosis Complex / David J Kwiatkowski -- Genotype₆Phenotype Studies in TSC and Molecular Diagnostics / Kit S Au, Hope Northrup -- Basic Science. The Role of Target of Rapamycin Signaling in Tuberous Sclerosis Complex / Brendan D Manning -- Rat and Mouse Models of Tuberous Sclerosis / David J Kwiatkowski -- Animal Models of TSC: Insights from Drosophila / Duojia Pan -- Brain Involvement. Pathogenesis of TSC in the Brain / Peter B Crino, Rupal Mehta, Harry V Vinters -- Epilepsy in TSC / Elizabeth A Thiele, Howard L Weiner -- Subependymal Giant Cell Astrocytomas / David Neal Franz, Darcy A Krueger, M Gregory Balko -- Neurodevelopmental, Psychiatric and Cognitive Aspects of Tuberous Sclerosis Complex / Petrus J de Vries -- Other Organ Systems. Ophthalmic Manifestations / Shivi Agrawal, Anne B Fulton -- Dermatologic Manifestations of Tuberous Sclerosis Complex (TSC) / Thomas N Darling, Joel Moss, Mark Mausner -- Renal Manifestations of Tuberous Sclerosis Complex / John J Bissler, Elizabeth P Henske -- Cardiac and Vascular Manifestations / Sergiusz J̤zwiak, Maria Respondek-Liberska -- Lymphangioleiomyomatosis and Pulmonary Disease in TSC / Francis X McCormack, Elizabeth P Henske -- Endocrine, Gastrointestinal, Hepatic, and Lymphatic Manifestations of Tuberous Sclerosis Complex / Finbar J O'Callaghan, John P Osborne -- Family Impact. Impact of TSC on the Family and Genetic Counseling Issues / Vicky H Whittemore, Janine Lewis -- Index.
Additional Edition:
Print version: Tuberous sclerosis complex. Weinheim : Wiley-VCH, ©2010 ISBN 9783527322015
Additional Edition:
ISBN 3527322019
Language:
English
Keywords:
Electronic books.
;
Electronic books.
;
Electronic books.
DOI:
10.1002/9783527630073
URL:
https://onlinelibrary.wiley.com/doi/book/10.1002/9783527630073
URL:
https://onlinelibrary.wiley.com/doi/book/10.1002/9783527630073
URL:
https://onlinelibrary.wiley.com/doi/book/10.1002/9783527630073
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