Tuberous sclerosis is an autosomal dominant disorder often associated with a chromosome 9 abnormality, although up to 60% of cases occur spontaneously. The incidence of the disorder is between 1/100,000 and 1/10,000, and it leads to multiple organ and skeletal abnormalities. The classical triad...
2010,Radiology of the Orbit and Visual Pathways Review article Renal cell carcinoma: Current status and emerging therapies Tuberous sclerosis Tuberous sclerosisis anautosomal dominantdisorder caused by mutations in eitherchromosome 9qor 16p, the TSC1 and TSC2 genes, respectively.41About 1 in 10,000 ...
Tuberous sclerosis is a genetic disorder affecting cellular differentiation and proliferation, which results in hamartoma formation in many organs (eg, skin, brain, eye, kidney, heart). Von Recklinghausen first described tuberous sclerosis in 1862.
Tuberous sclerosis complex: Renal imaging findings Radiology, 225 (2002), p. 4516 Google Scholar [10] Halfdanarson TR, Rabe KG, Rubin J, Petersen GM. Pancreatic neuroendocrine tumors (PNETs): incidence, prognosis and recent trend toward improved survival. Ann Oncol 2008: 19 (10): 1727–173...
Tuberous sclerosis (TS) is a condition whose manifestations in childhood have been extensively described, but whose presentation in adults is less well known. This study describes the clinical and genetic characteristics, therapeutic management and quality of life of a cohort of adult patients with TS...
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Carmody, E.; Yeung, E.Y.; McLoughlin, M. 1993:Liver hamartomas in tuberous sclerosisClinical Radiology 48(6): 432 Jóźwiak, S.; Pedich, M.; Rajszys, P.; Michalowicz, R. 1992:Incidence of hepatic hamartomas in tuberous sclerosisArchives of Disease in Childhood 67(11): 1363-1365 ...
To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time. Methods In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and ...
Case Study: Tuberous SclerosisRadiologicalandUltrasoundTechnologyRadiologyNuclearMedicineandimagingdoi:10.1002/j.2051-3909.2004.tb00019.xRoyalRoyalBrisbaneRoyalHospitalRoyalQueenslandRoyalAustraliaRoyalRoyalRoyalChildrensRoyalHospitalRoyalofRoyalBrisbaneRoyalCROSSREFJournal of Medical Radiation Sciences...
MR imaging of tuberous sclerosis: Pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review 1992, Radiology Mendelian etiologies of stroke 1987, Annals of Neurology Hypomelanosis of ito (incontinentia pigmenti achromians)— A clinicopathologic study: Macrocephaly and gra...