21. TSI (Tuberous Sclerosis International) tuberous sclerosis International, A Worldwide Organisation of tuberous sclerosis Associations. tuberous sclerosis tuberous sclerosis (TS syn. http://www.stsn.nl/tsi/tsi.htm

Tuberous Sclerosis International A Worldwide Organisation of Tuberous Sclerosis Associations TSA International Research Conference Sept. 16-18th, 2004 See the information on the website of the TSA Download Report of Venice meeting Sept. 2001 (32kB) Request for proposals from the Tuberous Sclerosis Alliance TUBEROUS SCLEROSIS Tuberous Sclerosis (TS syn. Epiloia or Bourneville's disease) is a common genetic condition which produces abnormal growths in the body from birth throughout life. It can severely affect development and health. Symptoms may include: * Tumours * Epilepsy * Learning Difficulties * Autism * Challenging Behaviour * Renal Complications * A Disfiguring Facial Rash There is no cure for Tuberous Sclerosis yet, only treatment for the symptoms. TS affects 1 in 7,000 and many people carry the gene without serious consequences other than a 1 in 2 risk of having a more severely affected child. TUBEROUS SCLEROSIS INTERNATIONAL The Tuberous Sclerosis International was formed in 1986 as a world organisation of national Tuberous Sclerosis Associations. Goals and Objectives of the T.S.I.:

22. GeneReviews: Tuberous Sclerosis Complex Your browser does not support HTML frames so you must view tuberous sclerosis Complex in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/tuberous-sclerosis/

Your browser does not support HTML frames so you must view Tuberous Sclerosis Complex in a slightly less readable form. Please follow this link to do so.

23. Kolten's Tuberous Sclerosis Page Kolten's story about living with this disease. The daily seizures that took over his life and the amazing surgery that gave it back to him. http://www.Kolten.homestead.com/Kolten.html

Kolten's Surgery Photos Tuberous Sclerosis Alliance Kolten's Tuberous Sclerosis Page Tuberous Sclerosis Alliance Kolten's Tuberous Sclerosis Story WELCOME TO This is our son Kolten's story about living with Tuberous Sclerosis. The seizures that took over his life and the amazing brain surgery that gave it back to him. A Mother's Diary Kolten's Surgery Photos This page was last updated on: October 13, 2003 My Favorite Story For Mother's With a Special Needs Child

24. Tuberous Sclerosis Complex tuberous sclerosis Complex. TSC. ED. Molecular Genetics of tuberous sclerosis Complex. Gene Symbol. Chromosomal Locus. Protein Name. TSC1. 9q34. Hamartin. http://www.geneclinics.org/profiles/tuberous-sclerosis/details.html

Tuberous Sclerosis Complex TSC. Includes: Tuberous Sclerosis 1 (TSC1), Tuberous Sclerosis 2 (TSC2)] Authors: Hope Northrup, MD, FACMG Kit-Sing Au, PhD About the Authors Initial Posting: 13 July 1999 Last Update 29 August 2003 Summary Disease characteristics. Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, facial angiofibromas, shagreen patches, fibrous facial plaques, ungual fibromas), brain (cortical tubers, subependymal nodules, seizures, mental retardation/developmental delay), kidney (angiomyolipomas, cysts), and heart (rhabdomyomas, arrhythmias). Diagnosis/testing. The diagnosis of TSC is based on clinical findings. Two causative genes (chromosomal locus 9q34) and (chromosomal locus 16p13.3) have been identified. Molecular testing is available on a clinical basis. Genetic counseling TSC is inherited in an autosomal dominant manner. Two-thirds of affected individuals have TSC as the result of a de novo gene mutation . The offspring of an affected individual have a 50% risk of inheriting the altered TSC gene Prenatal testing by high-resolution ultrasound examination for tumors is available, but its

25. The Cardiff-Rotterdam Tuberous Sclerosis Mutation Database The CardiffRotterdam tuberous sclerosis Mutation Database. This Database is maintained from Cardiff, Institute of Medical Genetics http://www.uwcm.ac.uk/uwcm/mg/tsc_db/

The Cardiff-Rotterdam Tuberous Sclerosis Mutation Database This Database is maintained from Cardiff, Institute of Medical Genetics, and is a locus specific database. It contains published mutations and polymorphisms in the tuberous sclerosis TSC2 gene, as well as prepublished data from participating centres. Where available clinical details will be provided. We hope this initiative can speed up communication in the field. This database is freely accessible, and data should not be used for publication, replication or reproduction by any means, without written permission of the coordinators. Permission will usually be granted if a proper reference to the database is provided. Contributions from other centres will remain possesion of the contributor and will carry an appropriate reference. Groups interested in actively participating are asked to fill in the comment form further down this page. There are three groups of mutations: Gross Deletions/Insertions Micro-Mutations 3. Polymorphisms, which will be added at a later date. There is a submission form which can be used to send mutation data to the database curators.

26. Tuberous Sclerosis Canada Sclérose Tubéreuse Site includes contact email sites for board members across Canada, fact sheets about TSC, a forum for sharing information, and portions of the TSCST newsletter, Connections. http://www.tscst.org

INTERNATIONAL SYMPOSIUM ON TUBEROUS SCLEROSIS: Genetics, Behaviour and Surgical Treatment Thursday, December 4, 2003 Jeanne Timmins Amphitheatre This program covers many aspects of Tuberous Sclerosis Complex, and we are fortunate to have the opportunity to hear these excellent speakers who are experts in their fields. This will be the first International Symposium on Tuberous Sclerosis ever held in Canada. IMPORTANT INFO Click Here for Program Information charitable registration: Tuberous Sclerosis Canada Dedicated to the principles of providing encouragement and support to individuals and their families diagnosed with Tuberous Sclerosis Complex (TSC); raising public awareness and educating our communities of TSC; and to promote and support research aimed at the cure for TSC and/or control of Tuberous Sclerosis symptoms. Membership Notice How Important is your membership to us?

27. The Australasian Tuberous Sclerosis Society The Australasian tuberous sclerosis Society. http://atss.customer.netspace.net.au/

The Australasian Tuberous Sclerosis Society Home What is TSC? Who are ATSS? News and Calendar Reachout ... About The Annual Family Conference is on this year! The 2004 Family Conference Weekend is aimed at the whole faimly, including sessions focusing on siblings, men's issues and 'back to basics' regarding TS Genetics and Neurology. Other speakers will address physical development and understanding the big picture of a disability. The Family Conference will be held at the Royal Institute for Deaf and Blind Children (RIDBC), North Rocks, Sydney on Saturday and Sunday, 14th-15th August 2004. A copy of the weekend programme is available. Accomodation in student type rooms is available for those travelling long distances. The ATSS Committee has decided to offer subsidised transport costs for interstate families to attend the 2004 Conference. There is a limit of one family per state and written requests need to be submitted to the committee by June 30th, 2004. If you are interested in attending, please complete the

28. Marian's Life With Tuberous Sclerosis Marian's story. Information about the disease, pictures, contacts, medicine, links. http://www.expatworld.de/marian

Marian's story. A boy who suffers from Tuberous Sclerosis. Informations about the disease, pictures, contacts, medicine, links and some more. TS, TSC, Tuberöse, Sklerose, krank, Newsgroup, Diskussionsforum, herzkrank, Herztumore, Rhabdomyome, Kinder, Kardiologie, Kinderkardiologie, Herz, Tumor, Aortenbogenhypoplasie, Prostaglandin, Therapie, Herzkatheter, Echokardiographie, Krampfanfall, Epilepsie, Aortenbogenhypoplasie, Aortenisthmusstenose, pulmonale, Hypertension, Herzoperation, Depigmentierungen, Sabril, antikonvulsiv, Anfallsleiden, Anastomose, Patcherweiterungsplastik, Aorta, Luminal, Phenobarbital, ill, sick, cardiologic, heart, cardiac, defect, suffer, spasm, convulsion, cramp, tuberous, Tuberous, Sclerosis, sclerosis, autism, Genetic, Seizure, Seizures, Epilepsy, Health, Disease, Rare, Disorders, Genetics, Conditions, tubular Text and idea by TReiske@uni-muenster.de Last update: 15. 12. 2003

29. The Australasian Tuberous Sclerosis Society The aims of The Australasian tuberous sclerosis Society are Supporting people with TS and their families or carers, sharing problems and giving information. http://atss.customer.netspace.net.au/atss.htm

Who are ATSS? Home What is TSC? Who are ATSS? News and Calendar Reachout Members' Page Links ... About The aims of The Australasian Tuberous Sclerosis Society are: Supporting people with TS and their families or carers, sharing problems and giving information. Providing education, publicity and information to promote an understanding and awareness of the problems encountered by the condition. Promoting fund raising to support research into the causes and management of TS Contents Introduction Activities and Services Publicity and Fundraising Research ... Education Introduction The Australasian Tuberous Sclerosis Society (ATSS) was formed in 1982 by Lynn Wilson, a Tuberous Sclerosis (TS) affected person. The ATSS was established to promote a greater understanding of the condition and provide mutual support for affected families. In the years that have followed the ATSS has developed its services, both to the individuals and families it supports as well as to the professionals who approach the society for information. When doctors make a diagnosis of TS it comes as an enormous shock to the whole family. Most people have never heard of the condition and they feel bewildered, isolated and often devastated- emotions which only those who've experienced a similar trauma can truly understand. The ATSS encourages letters and phonecalls from people affected by TS or from their carers, and because it is run by people whose own lives have been closely affected by TS there is a genuine empathy with all enquiries

30. TUBEROUS SCLEROSIS : Contact A Family - For Families With Disabled Children: Inf printer friendly, tuberous sclerosis, tuberous sclerosis ASSOCIATION. tuberous sclerosis Association PO Box 9644 Bromsgrove B61 0FP http://www.cafamily.org.uk/Direct/t45.html

printer friendly TUBEROUS SCLEROSIS home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Tuberous (swellings or enlargements) sclerosis (the hardening of an organ or tissue) is a complex heterogeneous genetic disorder which may affect many of the body systems. Typical manifestations occur in the brain, skin,eye, heart, kidney, bones, lungs and intestine. Characteristic features include: in the brain, calcified growths which show on a CAT scan on the skin, hypomelanic (white) patches on the face, butterfly shaped rash, angiofibromas (adenoma sebaceum) on the forehead, fibrous plaque on the lumbar area, a shagreen patch (thickened and discoloured skin) in the kidney, cysts or angiomyolipomata (benign growth) in the heart, rhabdomyomata (benign growth of heart muscle) Epileptic seizures occur in 75 per cent of cases, while some degree of learning difficulty occurs in 50 per cent of cases. Additionally, behaviour problems and autistic tendencies are common features of the condition. However the condition is very variable in the severity and diversity of the presenting manifestations in individual cases. It is possible to have the condition while presenting with only one characteristic feature. Inheritance patterns Autosomal dominant inheritance with variable expression and reduced penetrance. It was thought that sporadic mutations accounted for 70 per cent of cases but detailed family histories, examinations and tests on first degree relatives show that sporadic mutations account for 50 per cent of new cases. It is therefore important to establish the family history prior to genetic counselling.

31. Matthew's Site For Tuberous Sclerosis Awareness Personal journal of a mother focused on her son's rare genetic disorder, which causes tumors in multiple parts of the body and causes neurological symptoms. Includes patient stories. http://www.angelfire.com/la3/tsc

var cm_role = "live" var cm_host = "angelfire.lycos.com" var cm_taxid = "/memberembedded" Welcome (click here) var site="sm3tuberous" This Mommies on the Web's Webring site owned by Matthew's Mom Previous Next RandomSite ... ListSites Want to join the Mommies on the Web's Webring

32. EMedicine - Tuberous Sclerosis : Article By Rabindranath Nambi, MD, DD, DipNB tuberous sclerosis tuberous sclerosis is a genetic disorder affecting cellular differentiation and proliferation, which results in hamartoma formation in http://www.emedicine.com/DERM/topic438.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Tuberous Sclerosis Last Updated: February 20, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: epiloia, Bourneville disease, tuberous sclerosis complex, TSC AUTHOR INFORMATION Section 1 of 8 Author Information Introduction Clinical Differentials ... Bibliography Author: Rabindranath Nambi, MD, DD, DipNB , Consulting Staff, Department of Dermatology, Dudley Group of Hospitals, UK Editor(s): Eleanor E Sahn, MD , Director, Division of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Medical University of South Carolina; Richard Vinson, MD , Chief, Department of Dermatology, William Beaumont Medical Center; Van Perry, MD , Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center; Glen H Crawford, MD

33. EMedicine - Tuberous Sclerosis : Article By David Neal Franz, MD tuberous sclerosis In 1880, Bourneville first described the cerebral manifestations of this disorder, applying the term “sclerose tubereuse” to indicate http://www.emedicine.com/neuro/topic386.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Tuberous Sclerosis Last Updated: August 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: tuberous sclerosis complex, Bourneville disease. Bourneville’s disease, epiloia, Vogt triad, Vogt’s triad, angiomyolipoma, lymphangiomyomatosis, polycystic kidney disease, renal cell carcinoma, intractable epilepsy, medically refractory epilepsy, mental retardation, adenoma sebaceum, hamartoma, subependymal nodule, subependymal giant cell astrocytoma AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: David Neal Franz, MD , Director, Tuberous Sclerosis Clinic, Associate Professor, Departments of Pediatrics and Neurology, University of Cincinnati College of Medicine, Children's Hospital Medical Center of Cincinnati Coauthor(s): Tracy A Glauser, MD

34. The National Tuberous Sclerosis Association A Letter to Mick from Rose Chodzinski a tuberous sclerosis victim. Mick meets Sclerosis. The National tuberous sclerosis Association. It http://www.goals.com/transrow/ntsa.htm

A Letter to Mick from Rose Chodzinski a Tuberous Sclerosis victim. Mick meets 10-year old Dadianna Westall, a victim of Tuberous Sclerosis. The National Tuberous Sclerosis Association It wasn't very long ago that I had never heard of tuberous sclerosis. Then one evening, my wife and I were invited to dinner by Frank Westall, a friend and sponsor of Trans-Oceanic. When introduced to his family, I met Dadianna, his 10-year old daughter who had tuberous sclerosis. An obvious relationship developed between Trans-Oceanic and Frank's local support group. It is an honor to be able to support and help The National Tuberous Sclerosis Association achieve their goal: (1) to increase awareness of tuberous sclerosis, and (2) to find the cause and cure for this dreaded disease. Trans-Oceanic's intention is to develop fund raising programs such as a 1-900 number that would follow the expedition's progress and a pledge-per-mile program where proceeds would go to the association. We are in the early stages of development, but are moving forward, so please keep posted. The following information is from a brochure provided by the NTSA.

35. National Library Of Medicine A list of synonyms, a summary and major features of tuberous sclerosis. http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=tuberous sclerosis&fi

36. Tuberous Sclerosis (Bourneville Disease) tuberous sclerosis (Bourneville disease). autosomal dominant phakomatosis classic triad seizures, retardation, adenoma sebaceum http://chorus.rad.mcw.edu/doc/00403.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search tuberous sclerosis (Bourneville disease) autosomal dominant phakomatosis classic triad: seizures, retardation, adenoma sebaceum calcified subependymal hamartomas uncalcified tubers in cerebral cortex enhancing lesion ==> malignant transformation to giant cell astrocytoma associated with: skin lesions angiomyolipoma increased risk of renal cell Ca Charles E. Kahn, Jr., MD - 8 July 1995 Last updated 26 May 2004 Medical College of Wisconsin

37. Team Tamara Home Nonprofit dedicated to raising awreness about tuberous sclerosis Complex; raising fund for The Children's Hospital of Phila., The Epilepsy Foundation, The tuberous sclerosis Alliance. Includes info links and Tamara's health updates. http://www.team-tamara.org

We're starting to see results from this family charitable effort! Our goals are to raise awareness about Tuberous Sclerosis Complex and to raise funds for research, awareness, and treatment programs for Tuberous Sclerosis Complex and Epilepsy. In an effort to provide as much information as possible, we've included links to The Children's Hospital of Philadelphia, The Epilepsy Foundation ®, and The Tuberous Sclerosis Alliance. We plan several fundraisers throughout the year, so click on the Upcoming Events button for the latest information. The "How's Tam" button will give periodic updates on Tamara's progress. Please remember, although this site does contain information about Tuberous Sclerosis Complex, it is not a medical site. We do not intend to provide diagnosis/treatment information except in the way in which it relates to Tamara and her family. Please discuss any concerns, and information you find here, with your pediatrician/physician. If you need additional information, please telephone Team Tamara at 267-446-3338 or click the following E-mail link:

38. Skin Lesions Of Tuberous Sclerosis skin lesions of tuberous sclerosis. adenoma sebaceum. Shagreen patches. periungual fibromata. ashleaf hypopigmentation. Charles E. Kahn http://chorus.rad.mcw.edu/doc/00404.html

CHORUS Collaborative Hypertext of Radiology Technical stuff / Miscellany Feedback Search skin lesions of tuberous sclerosis adenoma sebaceum Shagreen patches periungual fibromata ash-leaf hypopigmentation Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 26 May 2004 Medical College of Wisconsin

39. Recognizing An Index Case Of Tuberous Sclerosis - February 1, 2000 - American Ac AFP February 1, 2000. Recognizing an Index Case of tuberous sclerosis. 3 tuberous sclerosis has no predilection for gender or race. http://www.aafp.org/afp/20000201/703.html

Advanced Search Recognizing an Index Case of Tuberous Sclerosis JOSEPH S. HURST, M.D., Columbus Regional Family Practice Residency Program, Columbus, Georgia SUSAN WILCOSKI, M.D., Swedish Covenant/Chicago Medical School Family Practice Residency Program, North Chicago, Illinois A patient information handout on tuberous sclerosis, written by the authors of this article, is provided on page 710. Tuberous sclerosis is the most common neurocutaneous syndrome after neurofibromatosis. Dermatologic manifestations may be the only clues the family physician has to the diagnosis of the disorder, which is also marked by childhood seizures and mental retardation. Characteristic signs of tuberous sclerosis vary widely in severity and can include hypopigmented "ash-leaf spots," fibrous plaques on the forehead, angiofibromas on the face (adenoma sebaceum), a shagreen patch on the lower back and fibromas of the nails. Computed tomographic scanning or magnetic resonance imaging reveal subependymal nodules or cortical "tubers" in the brain. Associated cardiac, retinal, renal and pulmonary pathology can increase morbidity and mortality. Genetic counseling is helpful but has limited use because of the variation in genetic expression and the frequency of new gene mutations that cause this disorder. (Am Fam Physician 2000;61:703-8,710.) T he term "tuberous sclerosis" was first used in 1880 to describe a syndrome consisting of seizures, mental retardation and facial rash in a young girl. However, this complex disorder was initially identified in 1862, and an association between seizures, mental retardation and facial angiofibromas (adenoma sebaceum), referred to as "Vogt's triad," was established in 1908.

40. Tuberous Sclerosis And Your Baby - February 1, 2000 - American Academy Of Family tuberous sclerosis and Your Baby. What is tuberous sclerosis? tuberous sclerosis What are the signs of tuberous sclerosis? Your doctor http://www.aafp.org/afp/20000201/20000201b.html

Advanced Search Please note: This information was as current as we could make it on the date given above. But medical information is always changing, and some information given here may be out of date. For regularly updated information on a variety of health topics, please visit familydoctor.org , the AAFP patient education Web site. An article on this topic is available in this issue of AFP Tuberous Sclerosis and Your Baby What is tuberous sclerosis? Tuberous sclerosis causes growths in the brain, eyes, heart, kidney, skin or lungs. These growths are usually benign (not cancer). The first signs may be seizures and spots on the skin. People in the same family who have tuberous sclerosis may have no learning problems or mild learning problems, or they may have serious learning problems, with seizures that are hard to control. Tuberous sclerosis isn't common, but it isn't rare either. Up to 40,000 people in the United States have it. The disorder occurs in both sexes and in people of all races and ethnic groups. How did my child get this disorder?

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 106    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20