http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
genes, clinical features and therapeutics
1 online resource (xxi, 409 pages) : illustrations (some color)
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.
edited by David J. Kwiatkowski, Vicky Holets Whittemore, and Elizabeth A. Thiele.
Includes bibliographical references and index.