81. NIH Press Release - Second Gene Responsible For Tuberous Sclerosis Complex Ident Second Gene Responsible for tuberous sclerosis Complex Identified TSC1Finding on Chromosome 9 Follows 1993 Discovery of TSC2 Gene. http://www.nih.gov/news/pr/aug97/ninds-07.htm

NATIONAL INSTITUTES OF HEALTH National Institute of Neurological Disorders and Stroke EMBARGOED FOR RELEASE Thursday, Aug. 7, 1997 4:00 PM Eastern Time Stephanie Clipper Second Gene Responsible for Tuberous Sclerosis Complex Identified TSC1 Finding on Chromosome 9 Follows 1993 Discovery of TSC2 Gene Scientists have identified the second of two genes that cause tuberous sclerosis complex (TSC), a relatively common developmental disorder characterized by a number of abnormalities, including seizures, benign tumors in several organs, and variable emotional and cognitive disabilities. The discovery, to be reported in the August 8, 1997, issue of Science * by David Kwiatkowski, M.D., Ph.D., and colleagues at Brigham and Women’s Hospital in Boston, was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI), both components of the National Institutes of Health. Investigators located the TSC1 gene on chromosome 9. The gene makes a protein called hamartin , named after hamartomas, a type of tumor common to TSC and comprised of multiple cell types. Affected individuals have a mutation in either the TSC1 gene or the TSC2 gene. The TSC2 gene, which codes for a protein called

82. Pulse24 - Toronto's News her age. But sadly, she’s not. Because little McKenzie suffers fromsomething called tuberous sclerosis or TS for short. It’sa http://www.pulse24.com/News_Features/Pulse_on_Health/20020826-001/page.asp

Monday, March31, 2003 Top Stories War In Iraq Newserials Strange But True ... Startv Distressing Disease Health Specialist Laura DiBattista explains a rare genetic condition that brings pain to the families affected by it. If you met McKenzie Hutchison, you’d probably fall in love with her. The adorable 2-year-old looks like any child her age. But sadly, she’s not. Because little McKenzie suffers from something called tuberous sclerosis or T.S. for short. It’s a rare genetic disorder that leaves patients suffering a variety of ailments, from severe seizures to mental retardation and autism. “It's terrifying,” sighs Nicole Hutchison, McKenzie’s mom. “I mean, it's physically scary to watch, because it's not nice to see your daughter convulsing that way. But it's just so frustrating to be trying to help her and not be able to.” But despite the fact there’s no cure, there is hope. Recently developed medications are helping to stem the severity of the disease. “She's on a new medication now, and she was having up to 17, 20 seizures a day, which for us is a lot. Other people have hundreds a day.” Although McKenzie has been told she has a mild form of T.S., her mom and dad say they have no idea if their daughter will ever be able to live a normal life. “To this day,” Nicole notes, “we don't know what her future holds for her.”

83. Tuberous Sclerosis Complex (TSC) - For Patients And Families - The Center For Hu What is tuberous sclerosis Complex (TSC)? tuberous sclerosis complex (TSC) is aninherited disorder. tuberous sclerosis Newsletter Available through the mail. http://wwwchg.mc.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

84. Tuberous Sclerosis Articles, Support Groups, And Resources tuberous sclerosis articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). tuberous sclerosis. http://www.medhelp.org/HealthTopics/Tuberous_Sclerosis.html

[Health Topics A-Z] A B C D ... Z Tuberous Sclerosis Ask The Doctor Forums 4 yr old - possible tuberous sclerosis (Dermatology Forum) children with tuberous sclerosis (Neurology and Neurosurgery Forum) Probable Tuberous Sclerosis and Possible Infantile Spasm (Neurology and Neurosurgery Forum) Discoloration on Toddlers Arm/Shoulder (Dermatology Forum) ... Hypopigmentation Shape and Location Change (Dermatology Forum) Support Groups: National Tuberous Sclerosis Alliance [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

85. Manuscripts On Tuberous Sclerosis From The Neurogenetics/Neuro-Oncology Lab 1. Geist RT and Gutmann DH The tuberous sclerosis 2 gene is expressedat 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

86. Echocardiography tuberous sclerosis. Echocardiography is routinely performed in patientswith tuberous sclerosis to search for cardiac rhabdomyomas. http://www2.umdnj.edu/~shindler/tuberous_sclerosis.html

Tuberous Sclerosis E-chocardiography Journal: Alphabetical List Chronological List Images Home Page Echocardiography is routinely performed in patients with tuberous sclerosis to search for cardiac rhabdomyomas. Clinical description at the Online Mendelian Inheritance in Man OMIM database. Adenoma sebaceum. Rhabdomyoma of the heart: pathological specimen. This image is located on the Web Path Internet Pathology Laboratory for Medical Education at the University of Utah. Annotated References: 1. Nir A, Tajik AJ, Freeman WK, Seward JB, Offord KP, Edwards WD, Mair D, Gomez MR. Tuberous sclerosis and cardiac rhabdomyoma. Am J Cardiol 1995 Aug 15;76(5):419-21 Echocardiographically detected cardiac rhabdomyomata were common in patients with tuberous sclerosis. They were more prevalent and prominent in the younger patient. Tumors regress in size or number, or both, in most patients aged less than 4 years, and less so in older patients. 2. Muhler EG, Turniski-Harder V, Engelhardt W, von Bernuth G. Cardiac involvement in tuberous sclerosis. Br Heart J 1994 Dec;72(6):584-90

87. [P&S Medical Review:Oct:94] Pulmonary Lymphangiomyomatosis In Tuberous Sclerosis P S Medical Review Oct 1994, Vol.2, No.1 Pulmonary Lymphangiomyomatosisin tuberous sclerosis Association with Chronic Renal Failure. http://cpmcnet.columbia.edu/news/review/archives/medrev_v2n1_0003.html

Pulmonary Lymphangiomyomatosis in Tuberous Sclerosis: Association with Chronic Renal Failure JONATHAN L. BRISMAN, ANDREW J. KIRSCH, JOHN A. TAYLOR, BARRY D. BIRCH, HANINA H. HIBSHOOSH, AND STEVEN A. KAPLAN Departments of Urology, Squier Urological Clinic, and Pathology ABSTRACT Progression to renal failure in tuberous sclerosis patients is a rare phenomenon. Only twenty-nine such cases have been reported in the literature. Similarly, pulmonary lymphangiomyomatosis (honeycomb lung) is an uncommon complication of tuberous sclerosis occurring in less than 1% of patients. In reported cases of tuberous sclerosis and chronic renal failure, there have been no reported cases with known cystic lung disease. We present the first case of tuberous sclerosis with concomitant end-stage renal failure and cystic lung disease consistent with lymphangiomyomatosis as well as a review of the current literature. CASE REPORT A 28-year old black woman with tuberous sclerosis was admitted to our medical center with left flank pain and gross hematuria. Medical history was significant for bilateral renal cystic disease and seizures until age eleven. At age 21, she was diagnosed as having bullous lung disease with obstructive and restrictive features. She has had several tube thoracostomies for spontaneous pneumothoraces and requires home oxygen therapy. At age 26, she was begun on hemodialysis for end-stage renal failure. Family history is noteworthy for tuberous sclerosis and polycystic renal disease in her brother and father, who died at age 42. She was of average intelligence while her father and brother were mildly retarded. She was awaiting renal transplantation.

88. NINDS Tuberous Sclerosis Information Page tuberous sclerosis information sheet compiled by the National Institute of NeurologicalDisorders and Stroke (NINDS). NINDS tuberous sclerosis Information Page. http://accessible.ninds.nih.gov/health_and_medical/disorders/tuberous_sclerosis.

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Tuberous Sclerosis Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Tuberous Sclerosis Information Page Reviewed 07-01-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Tuberous Sclerosis? Is there any treatment? What is the prognosis? What research is being done? ... Additional resources from MEDLINEplus 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.

89. Tuberous Sclerosis Fact Sheet tuberous sclerosis fact sheet developed by the National Institute of NeurologicalDisorders and Stroke (NINDS). tuberous sclerosis Fact Sheet. http://accessible.ninds.nih.gov/health_and_medical/pubs/tuberous_sclerosis.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about a disorder Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page Tuberous Sclerosis Fact Sheet Get Web page suited for printing Email this to a friend or colleague Request free mailed brochure Table of Contents What is Tuberous Sclerosis? What causes TSC? Is TSC inherited? What are the signs and symptoms of TSC? ... Where can I get more information? What is Tuberous Sclerosis? Tuberous sclerosis-also called tuberous sclerosis complex (TSC) - is a rare, multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It commonly affects the central nervous system and results in a combination of symptoms including seizures, developmental delay, behavioral problems, skin abnormalities, and kidney disease.

90. Medicine Online Medical Reference, Cosmetic Plastic Surgery, Bid For Rx, Medicat Allied Health, Audiology Nutrition Optometry Occupational Therapy Physician's AssistantsMore Diseases and Conditions Miscellaneous - tuberous sclerosis. http://www.medicineonline.com/Default.asp?SubSubCatID=248&Main=1

91. ESynopsis Of Tuberous Sclerosis Of The Brain eSynopsis of tuberous sclerosis of Brain From the Electonic Synopsis of Pathology,the University of Connecticut School of Medicine, Department of Pathology. http://esynopsis.uchc.edu/S447.htm

92. Health Information Resource Database: Tuberous Sclerosis Alliance Human Services.. tuberous sclerosis Alliance. Contact Information.President 801 Roeder Road Suite 750 Silver Spring, MD 20910. 800 http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR0816

93. Braintf11-Tuberous Sclerosis BrainTF11tuberous sclerosis. T1W Axial Images. T2W Axial Images. T2W CoronalImages. FLAIR Coronal Images. T1W Sagittal Images. Axial-Post Contrast. http://www.mribhatia.com/braintf11/

BrainTF11-Tuberous Sclerosis T1W Axial Images T2W Axial Images T2W Coronal Images FLAIR Coronal Images ... Coronal-Post Contrast

94. Health Library - Tuberous Sclerosis tuberous sclerosis. None. General Discussion. tuberous sclerosis is a rare geneticmultisystem disorder that is typically apparent shortly after birth. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

95. NeuroCAST - References - Diagnosis And Management Of Tuberous Sclerosis Osborne JP et al., Epidemiology of tuberous sclerosis. Ann NY Acad Sci 1991; 6151257.Cheadle, JP et al., Molecular genetic advances in tuberous sclerosis. http://www.neurocast.com/site/content/references_12_2002.asp

Osborne J.P. et al., Epidemiology of tuberous sclerosis. Ann N Y Acad Sci Cheadle, J.P. et al., Molecular genetic advances in tuberous sclerosis. Hum Genet Roach E.s. et al., Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol Harding C.O. et al., Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am J Med Genet Vanderhooft S.L. et al., Prevalence of hypopigmented macules in a health population. J Pediatr Sugita K. et al., Tuberous sclerosis: report of two cases studied by computer-assisted cranial tomography within one week after birth. Brain Dev Williams, A. Northrup Research Laboratory, unpublished data. Gomez MR, Sampson JR, Whittemore, VH eds. Tuberous Sclerosis Complex, 3rd edition. New York, Oxford University Press 1999. Northrup H. et al., (updated 4/18/2001). Tuberous Sclerosis Complex. http://www.geneclinics.org Accessed 7/30/2002. Lagos J.C. et al., Tuberous sclerosis: reappraisal of a clinical entity. Mayo Clin Proc Rogers R.S. et al., Dermatologic manifestations. In: Tuberous Sclerosis Complex, 3rd edition.

96. Tuberous Sclerosis SETU Developmental Intervention Centre, Ahmedabad. Everything you everwanted to know about tuberous sclerosis. What is tuberous sclerosis? http://www.setuindia.org/ts.htm

What is EI FAQs About Us Services ... Home "If I am slow, I simply have to start earlier"- Robert La Fon SETU Developmental Intervention Centre, Ahmedabad Everything you ever wanted to know about Tuberous Sclerosis Tuberous Sclerosis (TS or TSC) is a difficult condition to explain because it affects people in many different ways. It is a complex genetic disorder affecting individuals with different degrees of severity. Some people with the disorder are totally unaffected and may go through life without the diagnosis ever have been made; others are only diagnosed when their child is found to have the condition. 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.

97. Scottish Research Information System: Tuberous Sclerosis Association Research Gr . These grants are only given......tuberous sclerosis Association Research Grants. Subject Area. TuberousSclerosis. http://www.scottishresearch.com/Funding/OtherOpportunities/tcm-26-34758.asp

Home What's new Funding Resources ... What's new Tuberous Sclerosis Association Research Grants Subject Area Tuberous Sclerosis Description These grants are only given for research directly concerned with the rare genetic condition, tuberous sclerosis. Contact Details Tuberous Sclerosis Association Church Farm House Church Road North Leigh Oxfordshire OX8 6TX UK Tel: 00 44 (0)1993 881238 Fax: 00 44 (0)1993 881238 Email: research@tuberous-sclerosis.org Source http://www.tuberous-sclerosis.org Back to top Home What's new ... Contact Us

98. Forum Di AIRSD :: Guarda Il Forum - TSC - Tuberous Sclerosis Complex Translate this page TSC - tuberous sclerosis Complex Moderatori panax, Garlet, edoardo Utenti chestanno navigando nel forum Nessuno, Vai a pagina 1, 2, 3, 4 Successivo. http://forum.airsd.org/viewforum.php?f=16

99. Research Updates. Ethics And The Gene Map.The Tuberous Sclerosis Genes. 4. The tuberous sclerosis genes, Link to the Medical Research Councilweb site. tuberous sclerosis affects about 1 in 6000 newborn infants. http://www.schoolscience.co.uk/content/5/biology/mrc/15/page4.html

Research updates 15 - Ethics and the Gene Map page 4 4. The tuberous sclerosis genes A story of gene sequencing Tuberous sclerosis is one of a large number of single gene disorders, just like cystic fibrosis, sickle-cell disease and haemophilia. The story of its mapping and sequencing , as part of the Human Genome Project, is a story of human suffering and competition between scientists, but also a story of human help and scientific collaboration. Figure 4. Typical appearance of someone with tuberous sclerosis who has facial lesions. Tuberous sclerosis affects about 1 in 6000 newborn infants. An important feature of the condition is the great variability in its phenotypic manifestation. A typical clinical symptom is the presence of skin lesions on the face (Figure 4), though 15% of those with tuberous sclerosis have no such lesions. These facial lesions superficially resemble acne. However, they do not involve the sebaceous glands. Although these lesions can be quite disfiguring, there are far more serious consequences of tuberous sclerosis. About 65% of people with tuberous sclerosis have seizures which may be severe. Unfortunately the seizures, especially if they occur within the first 18 months of life, lead to learning difficulties in about 40% of those affected. These learning difficulties can be severe. About a quarter of those with tuberous sclerosis have no speech and about the same proportion display autistic features. Hyperactivity and attention deficit disorders are also common, and destructive behaviour and deliberate self-harm are not infrequent.

100. EP Associations - The Tuberous Sclerosis Alliance Associations Back The tuberous sclerosis Alliance By Marybeth LeonginiMISSION STATEMENT WHAT IS tuberous sclerosis COMPLEX? First described http://www.eparent.com/resources/associations/tsa.htm

RESOURCES EDUCATION HEALTHCARE LIFE PLANNING ... TOYS Eparent Services: Reader Feedback EP Library Archived Articles Publisher’s Message ... Children’s Page Search Eparent: Associations: The Tuberous Sclerosis Alliance By Marybeth Leongini MISSION STATEMENT The Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis while improving the lives of those affected. HISTORY Founded in 1974, the Tuberous Sclerosis Alliance (TS Alliance) was established by four mothers who sought to provide fellowship, generate awareness and provide hope to those that share the common bond of tuberous sclerosis complex (TSC). TSC is a genetic disorder characterized by seizures and tumor growth in vital organs. In addition to serving as an advocate and promoting research on TSC, the TS Alliance serves as a clearinghouse for families and physicians seeking current and comprehensive information on TSC. WHAT IS TUBEROUS SCLEROSIS COMPLEX?

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