Tuberous Sclerosis ComplexManuel Rodriguez Gomez, Julian R. Sampson, Vicky Holets Whittemore Oxford University Press, 15. 7. 1999 - 368 strán (strany) Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes sever mental retardation. Infants with this disease may appear overactive, autistic, or socially impaired. Because tuberous sclerosis involves abnormal cellular differentiation, aberrant neuronal migration, and excessive cell proliferation, this thoroughly revised edition will be of interest to a wide range of professionals involved in the study of biological mechanisms underlying many genetically determined neurological disorders. |
Obsah
1 History of Tuberous Sclerosis Complex | 3 |
2 Definition and Criteria for Diagnosis | 10 |
3 The Epidemiology of the Tuberous Sclerosis Complex | 24 |
4 Natural History of Cerebral Tuberous Sclerosis | 29 |
5 Psychiatric and Psychological Aspects | 47 |
6 The Electroencephalogram in Tuberous Sclerosis | 63 |
7 Magnetoencephalography | 75 |
8 Brain Imaging in the Tuberous Sclerosis Complex | 85 |
13 Cardiac Manifestations | 194 |
14 Pulmonary Tuberous Sclerosis | 207 |
15 The Endocrine System in Tuberous Sclerosis Complex | 218 |
16 Liver Digestive Tract Spleen Arteries Thymus and Lymphatics | 228 |
17 Imaging the Skeleton and the Great Vessels | 240 |
18 Lineages of Cells in the Central Nervous System | 250 |
Part 1Gene Mapping | 263 |
20 The TSC2 Gene and Tuberin | 288 |
9 Neuropathology | 101 |
10 Ophthalmic Findings | 145 |
11 Dermatologic Manifestations | 160 |
12 Renal Manifestations | 181 |
21 Genetic Counseling | 313 |
The Impact on the Individual and Family | 324 |
| 331 | |
Iné vydania - Zobraziť všetky
Tuberous Sclerosis Complex Manuel Rodriguez Gomez,Julian R. Sampson,Vicky Holets Whittemore Obmedzený náhľad - 1999 |
Tuberous Sclerosis Complex Manuel Rodriguez Gomez,Julian R. Sampson,Vicky Holets Whittemore Zobrazenie úryvkov - 1999 |
Časté výrazy a frázy
adenoma sebaceum allele AMLs aneurysm angiomyolipomas Arch astrocytic astrocytoma autism behavior Bourneville brain calcification cardiac rhabdomyomas cerebral child chromosome chromosome 16 Clin cloning computed tomography cortical tubers cystic cysts deletions detected diagnosis of TSC disorder Eker rat epilepsy epileptiform abnormalities exons facial angiofibroma fibromas FIGURE focal genomic GFAP giant cell astrocytoma gland glial Gomez hamartomas histologic Hum Genet hypomelanotic macules imaging immunohistochemical individual with TSC infant infantile spasms intracranial involvement lesions linkage locus loss of heterozygosity macules markers Mayo Clinic mental handicap mosaicism multiple mutation neurofibromatosis neurons normal onset Ophthalmol partial seizures Pathol pathology patients with TSC patients with tuberous Pediatr phakomatoses phenotype PKD1 polycystic kidney disease protein pulmonary radiographic region renal reported rhabdomyoma SEGA showed skin staining subependymal subependymal giant cell subependymal nodules symptoms syndrome tissue TSC patients TSC1 TSC2 gene TSCI tuberin tuberous sclerosis complex ventricular white matter