81. Tuberous Sclerosis UCLA, Pediatric Neuropsychiatry Web site http://www.npi.ucla.edu/PEDSNEUROPSYCH/Tuberous_Sclerosis/tuberous_sclerosis.htm

82. Tuberous Sclerosis Background. tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by a variety of organ system changes. http://www.thedoctorsdoctor.com/diseases/tuberous_sclerosis.htm

Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by a variety of organ system changes. Its name is derived from the characteristic changes that occur in the brain, called tubers. Over time, these tuberous growths become hard and sclerotic and may calcify. Until recently, most of the proliferations and tumors associated with the disease were thought to be hamartomas. Recent molecular biological analysis has revealed that these are clonal processes and true neoplastic growths. The TSC1 and TSC2 genes behave as tumor suppressor genes. If a somatic mutation of the second allele occurs, abnormal cell growth and differentiation occur. The current diagnostic criteria divide the disease into diagnostic categories based upon the combination of clinical and histological findings. Definite TSC: Either 2 major features or 1 major feature and 2 minor features Possible TSC: Either 1 major feature or 2 or more minor features Major Features Minor Features Facial angiofibromas or forehead plaque Nontraumatic ungual or periungual fibroma Hypomelanotic macules (more than 3) Shagreen patch (connective tissue nevus) Multiple renal nodular hamartomas Cortical tuber* Subependymal nodule Subependymal giant cell astrocytoma Cardiac rhabdomyoma, single or multiple

83. HHMI News: Researchers Closer To Understanding Tuberous Sclerosis Researchers Closer to Understanding tuberous sclerosis. In trying to understand tumorigenesis, a great deal of attention has been http://www.hhmi.org/news/xu2.html

RESEARCH NEWS RESEARCH NEWS GRANT ANNOUNCEMENTS SCIENCE EDUCATION NEWS INSTITUTE NEWS ... HHMI HOME ALSO OF INTEREST Studies of Fly Tumor May Expand Understanding of Human Cancer Building a Better Mouse Model of Lung Cancer Three Genes Linked to Malignant Epithelial Growth Genetic Cause of Most Common Cancer Found ... Download this story in Acrobat PDF format. (requires Acrobat Reader Researchers Closer to Understanding Tuberous Sclerosis "In trying to understand tumorigenesis, a great deal of attention has been paid to the proliferation of cells as an underlying cause," said HHMI investigator Tian Xu. "But our studies of these regulatory proteins suggest that deregulation of organ size may be another important step in tumorigenesis." Researchers have new evidence that may help explain how two genes that are mutated in patients with tuberous sclerosis complex, a genetic disorder that produces widespread benign tumors in the brain, skin, lungs and kidneys, contribute to regulating cell growth and organ size. In an article published in the May 4, 2001, issue of the journal

84. Clinical Trial: Study Of Skin Tumors In Tuberous Sclerosis Study of Skin Tumors in tuberous sclerosis. Purpose. tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. http://www.clinicaltrials.gov/ct/gui/show/NCT00001975?order=18

85. News Tuberous Sclerosis National Campaign Calls for Early Detection of tuberous sclerosis April 9, 1999 Conumdrum Communications The National tuberous sclerosis http://www.hoyweb.com/lh/tuberus.htm

86. Tuberous Sclerosis - Disease, Disorder, Or Condition Overview And/or Article Lib tuberous sclerosis Overview and library of articles relating to particular disease, condition, or disorder. tuberous sclerosis. Overview http://www.stopgettingsick.com/Conditions/conditions_menu.cfm/168

Beta Glucan,beta 1,3/1,6 glucan,beta 1,3 glucan,Beta 1,6 Glucan,immune system/a> Guest search My Health Focus Immunity Alternative and Complementary Therapies Diseases and Conditions ... Healing Stories Forums General Health Home Remedies The Water Cooler Feedback ... My Profile Last updated 06/02/04 12:24 PST Tuberous Sclerosis Overview Table of Contents What is Tuberous Sclerosis? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Tuberous Sclerosis? Tuberous sclerosis is a rare genetic, neurological disorder primarily characterized by seizures, mental retardation, and skin and eye lesions. In some cases, neurobehavioral problems may also occur. Individuals with tuberous sclerosis may experience none or all of the symptoms with varying degrees of severity. Tuberous sclerosis is a multi-system disease that can affect the brain, kidneys, heart, eyes, lungs, and other organs. Small benign tumors may grow on the face and eyes, as well as in the brain, kidneys, and other organs. Neuroimaging studies may be able to confirm the diagnosis. Seizures most often begin in the first year of life. Is there any treatment?

87. TOUS: CAS TUBEROUS SCLEROSIS tuberous sclerosis . ANGIOMYOLIPOMA CT,tuberous sclerosis,ANGIOMYOLIPOMA. BRAIN BRAIN, CT,tuberous sclerosis. http://www.med.univ-rennes1.fr/cerf/iconocerf/idx/tous/TUBEROUS_SCLEROSIS.html

ANGIOMYOLIPOMA : CT,TUBEROUS SCLEROSIS,ANGIOMYOLIPOMA BRAIN : BRAIN, CT,TUBEROUS SCLEROSIS CT : BRAIN, CT,TUBEROUS SCLEROSIS CT,TUBEROUS SCLEROSIS,ANGIOMYOLIPOMA Total: 2 cas cliniques Sommaire des Index de Radiologie

88. SupportPath.com: Tuberous Sclerosis SupportPath.com, tuberous sclerosis. None Listed. Professional Organizations of Interest None Listed. Clinical Trials Research on tuberous sclerosis http://www.supportpath.com/sl_t/tuberous_sclerosis.htm

Tuberous Sclerosis About Us Add-A-Link Email Gallery ... here Online Communities / Message Boards... Braintalk Communities: Tuberous Sclerosis Website: Description: A part of the BrainTalk Communities website. Registration is required to post to this message board. Date Added: 06/06/2002 Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... None Listed Note: Groups are listed alphabetically by U.S. state and then country. None Listed None Listed Professional Organizations of Interest... None Listed ClinicalTrials.gov: Tuberous Sclerosis Website: http://www.clinicaltrials.gov/ct/gui/action/SearchAction;jsessionid=30D04480426902E3D365296639C6A0A1?term=Tuberous+Sclerosis Description: Search results for "Tuberous Sclerosis" from the National Institutes of Health (NIH). Date Added: 07/23/2002 Miscellaneous Links...

89. Tuberous Sclerosis - The Knowledge Database Of The Swedish National Board Of Hea the contents and conclusions. tuberous sclerosis. To the Swedish version tuberous sclerosis complex TSC. Table of Contents. http://www.sos.se/smkh/2002-110-8/2002-110-8.htm

Socialstyrelsen 106 30 Stockholm e-post With effect from 2001, the National Board of Health and Welfare classifies its publications into various types of document. This an Overview of Knowledge . That means that the report is based on science and/or proven experience. Overviews of knowledge among other things are to provide support for knowledge-based care and treatment, method development and other improvement work, encourage and facilitate quality follow-up and/or encourage efficient utilisation of resources. The National Board of Health and Welfare is responsible for the contents and conclusions. Tuberous Sclerosis Tuberous sclerosis complex TSC Table of Contents The disease/injury/diagnosis Incidence Aetiology of the disease/injury Heredity ... Database references Document date: 2002-03-08 Version: 1.1 Article number: 2002-110-8 English index Search The aphabetical list This is an excerpt from the knowledge database of the Swedish National Board of Health and Welfare on rare diseases. The concept of "rare diseases" is defined as: "Disorders or injuries resulting in extensive handicaps and affecting no more than 100 individuals in one million inhabitants". The ambition underlying the database is to provide up-to-date information on rare diseases and about the support and services these groups of people require. The disease/injury/diagnosis The term "tuberous sclerosis" refers to a tuber-like hardening of the cerebral cortex that often characterizes this disorder. The first complete description of the disease was made by a French physician named Bourneville in 1880, and it is often also known as Bourneville's disease. The abnormalities may involve one or more organs, and may be more or less extensive. Hence the current name of TSC or tuberous sclerosis complex. In some cases the only indication of the disease may be barely visible skin abnormalities. This text primarily describes the forms of the disease that entail substantial disability, although there are many other variations. Mild cases of tuberous sclerosis do not necessarily involve any mental retardation or functional disability.

90. Www.ddhealthinfo.org - Medical Care Information tuberous sclerosis Background. Note These considerations are in addition to the normal medical care provided to an individual without tuberous sclerosis. http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3153

91. TUBEROUS SCLEROSIS Features Listed For tuberous sclerosis. McKusick 191100. Adenoma sebaceum; Agenesis/hypoplasia of corpus callosum; Brain tumours/cysts; Early puberty in male; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1728

92. Kprones TuberSclerosID10014 tuberous sclerosis (TSC). Identity. A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. http://www.infobiogen.fr/services/chromcancer/Kprones/TuberSclerosID10014.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Tuberous Sclerosis (TSC) Identity Other names Bourneville disease Epiloia Inheritance Frequency : 1/6000-1/10000 birth. First genetic cause of epilepsy associated with mental retardation = epiloia. 2/3 of cases are sporadic, 1/3 are inherited. Genetic heterogeneity : two genes, TSC1 and TSC2, account for the majority of cases. Somatic mosaicism has been reported in association with a milder form of the disease. Germinal mosaicism has been described and must be taken into account for genetic counselling. Autosomal dominant with almost complete penetrance but variable expressivity. Clinics Note Disability in TSC patients most often results from the involvement of brain. Two types of lesions are static (hamartias) ; cortical tubers, and subcortical heterotopic nodules, whereas subependymal nodules are often progressive (hamartoma), hence the term subependymal giant cell astrocytoma. Phenotype and clinics The definition of the tuberous sclerosis complex requires either two major features or one major feature plus two minor features.

93. Tuberous Sclerosis Complex (TSC) - For Patients And Families - The Center For Hu What is tuberous sclerosis Complex (TSC)? tuberous sclerosis complex (TSC) is an inherited disorder. tuberous sclerosis Newsletter Available through the mail. http://www.chg.duke.edu/patients/ts.html

For Patients and Families Tuberous Sclerosis Complex (TSC) What is Tuberous Sclerosis Complex (TSC)? Genetics and TSC CHG TSC Research CHG TSC Study Participation ... Additional TSC Information What is Tuberous Sclerosis Complex (TSC)? Tuberous sclerosis complex (TSC) is an inherited disorder. People with TSC may have any or all of the following symptoms: seizures, facial angiofibromas (characteristic reddish spots or bumps), Shagreen patches (elevated, pebbly, orange-peel skin), hypomelanotic maculas (white patches on the skin, observable only through use of special light called a "Woods lamp"), or multiple kidney cysts. Some individuals with TSC may even have mental retardation. Genetics and TSC TSC is inherited as an autosomal dominant disorder . Men and women are equally likely to have TSC. A child born to an individual with TSC has a 50% chance of inheriting TSC. Again, male and female children are equally likely to inherit a TSC gene if one of their parents is affected. Researchers have identified two genes that can lead to TSC, one on

94. BrainTalk Communities - Tuberous Sclerosis Post New Thread. Threads in Forum tuberous sclerosis, Forum Tools, Search this Forum. Views 3,657 Announcement Donations to BrainTalk http://brain.hastypastry.net/forums/forumdisplay.php?f=261

95. TUBEROUS SCLEROSIS, LYMPHANGIOMYOMATOSIS, AND POLYCYSTIC KIDNEY DISEASE tuberous sclerosis, LYMPHANGIOMYOMATOSIS, AND POLYCYSTIC KIDNEY DISEASE. MALIGNANCY IN CHILDREN AND ADULTS WITH tuberous sclerosis. http://www.fccc.edu/research/reports/current/henske.html

TUBEROUS SCLEROSIS, LYMPHANGIOMYOMATOSIS, AND POLYCYSTIC KIDNEY DISEASE ELIZABETH PETRI HENSKE, M.D., Associate Member ARIS ASTRINIDIS, Ph.D., Postdoctoral Associate (from September 1998) LEENA KHARE, Ph.D., Postdoctoral Associate (from June 1998) ELENI LOGGINIDOU, M.D., Postdoctoral Associate (from November 1998) TRACEY PLANK, Ph.D., Postdoctoral Associate (until December 1998) JOHANNA MYLET, M.S., Scientific Technician (until June 1998) LISA WESSNER, M.S., Scientific Technician (until May 1998) THOMAS CARSILLO, B.S., Technician (from November 1998) ROBERT K. OZOLS, Student Assistant, Dartmouth College, Hanover, NH (June to August 1998) Our laboratory studies three inter-related disorders: tuberous sclerosis complex (TSC), lymphangiomyomatosis (LAM), and autosomal dominant polycystic kidney disease (ADPKD). Tuberous sclerosis is an autosomal dominantly inherited disease with an incidence of approximately one in 10,000. TSC is characterized by seizures, mental retardation, autism, and benign tumors or "hamartomas." These tumors can occur in virtually any organ system, particularly brain, kidney, heart, and skin. Malignant tumors can also occur in tuberous sclerosis, particularly in the kidney, although they are less frequent than benign tumors. There are two genes that cause TSC, TSC 1 and TSC 2. We have been interested in understanding how mutations in these genes lead to human disease.

96. LLU Health Care Tuberous Sclerosis Clinic The Loma Linda University Health Care tuberous sclerosis clinic is the first specialty clinic for patients with tuberous sclerosis complex on the West Coast. http://www.llu.edu/lluhc/tsc-clinic.html

Tuberous sclerosis clinic Sponsored by Loma Linda University Health Care The tuberous sclerosis clinic is the first specialty clinic for patients with tuberous sclerosis complex on the West Coast. This "clinic without walls" has a multi-disciplinary approach that provides appropriate medical and surgical services related to the complications of this disorder. Both children and adults with tuberous sclerosis complex will initially be evaluated by Stephen Ashwal, MD, pediatric neurologist and clinic director, and Teresa Serna, PNP, pediatric neurology nurse practitioner, and then will be referred for subspecialty evaluation as needed. Subspecialists with expertise in this disorder include members from neurology, urology, nephrology, dermatology, ophthalmology, cardiology, neurosurgery, rehabilitation medicine, orthopedics, clinical psychology, and psychiatry. If you have any questions regarding the tuberous sclerosis clinic or if you wish to make a referral, please call the pediatric neurology clinic directly at and ask for Teresa Serna, PNP.

97. Dna Variation & Function: Dhplc Publication List Sorted By Categories::tuberous membership or subscription). Please, forward new citations for inclusion in this list to oefner genome.stanford.edu. tuberous sclerosis. http://insertion.stanford.edu/pub_tuberous_sclerosis.html

Home Back DHPLC Publication List (sorted by categories) The DHPLC publication list is also available sorted by publication year The Method Single Nucleotide Extension Sequencing and DHPLC Sensitivity and Specificity DNA/RNA Purification Mutational Analysis of Candidate Genes Mass Spectrometry and DHPLC Quantitation of Gene Expression by DHPLC ... DNA Methylation Analysis The references below are hyper-linked to their abstract via PubMed or, whenever possible, directly to the journal. (Access to journals may require membership or subscription). Please, forward new citations for inclusion in this list to oefner#genome.stanford.edu Tuberous Sclerosis Choy, Y.S., Dabora, S.L., Hall, F., Ramesh, V., Niida, Y., Franz, D., Kasprzyk-Obara, J., Reeve, M.P., Kwiatkowski, D.J. (1999) Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2. Ann. Hum. Genet. 63:383-391 Jones, A.C., Sampson, J.R., Hoogendoorn, B., Cohen, D., Cheadle, J.P.

98. Manuscripts On Tuberous Sclerosis From The Neurogenetics/Neuro-Oncology Lab 1. Geist RT and Gutmann DH The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. http://www.neuro.wustl.edu/neurogenetics/papers-TSC.html

Manuscripts on TSC See our work about: TSC Tumors View other Manuscripts: OK 1. Geist RT and Gutmann DH: The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. Cell Growth and Differentiation 6:1477-1483, 1995. 2. Geist RT, Reddy AJ, Zhang J, Gutmann DH: Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues. Neurobiology of Disease 3:111-120, 1996. 3. Wienecke R, Guha A, Maize JC, Heideman RL, DeClue JE, Gutmann DH: Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas. Annals of Neurology 42:230-235, 1997. 4. Gutmann DH, Saporito-Irwin S, DeClue JE, Wienecke R, Guha A: Alterations in the rap1 signaling pathway are common in human gliomas. Oncogene 15:1611-1616, 1997. 5. Gutmann DH. Tuberous sclerosis: endocytosis and growth regulation. Neurology Network Commentary. 1:291-295, 1997. 6. Dugan LL, Kim JS, Zhang Y, Bart RD, Sun Y, Holtzman DM, Gutmann DH: Differential effects of cAMP in neurons and astrocytes: Role of B-raf. J. Biol. Chem. 274:25842-25848, 1999. 7. Gutmann DH, Zhang Y, Hasbani MJ, Goldberg MP, Plank TL, Henske EP: Expression of the tuberous sclerosis complex (TSC) gene products, hamartin and tuberin, in central nervous system tissues. Acta Neuropathologica

99. USATODAY.com - 'West Wing' Star Campaigns For Tuberous Sclerosis I want people to have the same epiphany I had which is understand how devastating tuberous sclerosis is and how deserving these kids and families are of our http://www.usatoday.com/news/health/spotlighthealth/2004-04-27-tuberous_x.htm

Cars Jobs Franchises Business Opportunities ... Weather Politics Politics home Politics briefs Latest polls Political calendar Washington Washington home Washington briefs Government Guide Law Center Health Health home Medical resources Health information Editorial/Opinion Ed/Op home Columnists Cartoons More News Top news briefs Nation briefs World briefs States ... Talk Today Posted 4/27/2004 11:22 AM Updated 4/27/2004 12:47 PM RELATED ITEMS Web resources Tuberous Sclerosis Alliance NYU Epilepsy Center TSC info from NIH Other Spotlight stories Julianne Moore on TSC More Spotlight Health Today's Top News Stories FBI probing whether Chalabi gave Iran data Tribunal lawyers say defense short on resources President outlines ideology of war on terror to Air Force graduates Stolen propane trucks in Texas found ... Add USATODAY.com headlines to your Web site E-Mail Newsletters Sign up to receive our free Daily Briefing e-newsletter and get the top news of the day in your inbox.

100. Epilepsy Ontario - Tuberous Sclerosis West Syndrome. Williams Syndrome. tuberous sclerosis tuberous sclerosis Definition, (PedBase). tuberous sclerosis Definition, (Gene Clinics U. of Washington). http://epilepsyontario.org/client/EO/EOWeb.nsf/web/Tuberous Sclerosis

Sections Epilepsy Ontario Contact EO The Organization Our Resource Centre Epilepsy NEWS What's New? 'Sharing' News Epilepsy Information About Epilepsy Seizures Medications First Aid ... WWW Links Get Involved Local Chapters Provincial Programs Funding Volunteer Opportunities ... Direct Donation Products Helmets Epilepsy Monitoring Systems Glad Cards Other ... Feedback WWW Links : Other Conditions (Links) WWW Links Other Conditions (Links) Acoustic Neuroma Aicardi Syndrome ... Williams Syndrome Tuberous Sclerosis Tuberous Sclerosis Canada Sclérose Tubéreuse toll free TSCST is a voluntary non-profit charitable organization dedicated to the principles of raising public awareness of Tuberous Sclerosis complex, encouraging mutual support between families with affected members, and promoting research and education. Tuberous Sclerosis Definition (PedBase) Tuberous Sclerosis Definition (Gene Clinics - U. of Washington) Tuberous Sclerosis - Bourneville's Disease (Virtual Hospital) Tuberous Sclerosis Definition (National Organization for Rare Disorders) Tuberous Sclerosis Definition (adam.com)

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