61. Autism And Rett Syndrome; The Pevsner Lab In many cases, autism and rett syndrome are accompanied by mental retardation as well as seizures. protein 2 (MeCP2) cause some cases of rett syndrome. http://pevsnerlab.kennedykrieger.org/autism_rett.htm

Home DRAGON SNOMAD Bioinformatics ... Publications Autism and Rett Syndrome Introduction. Autism and Rett Syndrome are devastating, lifelong neurological disorders that are classified as pervasive developmental disorders (sometimes abbreviated PDD). Autism and Rett Syndrome are characterized clinically by severe, pervasive impairment in communication skills and in reciprocal social interaction skills. Stereotyped behavior and interests are typical. In many cases, autism and Rett Syndrome are accompanied by mental retardation as well as seizures. These disorders cause significant hardships for the affected children and adults, as well as their families, schools and communities. Today, the diagnosis of autism and related pervasive developmental disorders such as Asperger's Syndrome is based upon clinical criteria. There are no known biological causes. There are very few proven neurochemical, genetic, neuroanatomical, neurophysiological, structural, metabolic, or other molecular differences between these patients and the normal population.

62. Rett Syndrome rett syndrome medical information and links. AFSR Association Française du Syndrome de Rett Center for the Study of Autism Our rett syndrome Page http://www.doctorpage.com/Diseases_and_Conditions/html/rett_syndrome.htm

Match: Any Terms All Terms Help Check out our new site format - CLICK HERE! Rett syndrome International RETT Syndrome Association Rett Syndrome Rett Syndrome Rae Anne A Child With Rett Syndrome ... doctorpage.com

63. Healthfinder® - Rett Syndrome Carefully selected government and nonprofit health information on rett syndrome. http://www.healthfinder.gov/Scripts/SearchContext.asp?topic=749

64. Healthfinder® — International Rett Syndrome Association - IRSA As the most comprehensive worldwide organization dedicated to rett syndrome, the International rett syndrome Association proudly continues its eighteenth http://www.healthfinder.gov/orgs/HR2241.htm

Help Advanced Search News Library ... Organizations International Rett Syndrome Association - IRSA Organization URL(s) irsa@rettsyndrome.org www.rettsyndrome.org/ Other Contact Information 9121 Piscataway Road Suite 2B Clinton, MD 20735 800-818-RETT (Voice - Toll-free) 301-856-3334 (Voice) 301-856-3336 (FAX) Description Print Resources IRSA maintains and distributes reprints and a bibliography for health professionals and families. Serial publication: Newsletter, quarterly. Related Topics Disabilities Rett Syndrome Review Date Mon Nov 8, 2004 About Us Accessibility Freedom of Information Act Privacy ... Office of Disease Prevention and Health Promotion,

65. The DRM WebWatcher: Rett Syndrome A Disability Resources Monthly guide to the best online resources about rett syndrome. http://www.disabilityresources.org/RETT.html

Home Subjects States Librarians ... Contact Us The DRM WebWatcher Rett Syndrome Updated 4/2004 A B C D ... About/Hint/Link Rett Syndrome is a neurological disorder affecting primarily females. Children with Rett syndrome often exhibit autistic-like behaviors, such as repetitive hand movements, prolonged toe walking, body rocking, and sleep problems. Visit these sites for information about Rett syndrome. International Rett Syndrome Association Information about Rett syndrome, profiles of children with Rett syndrome, research news, information about the organization, and many links. Information about and the archives of the Internet discussion group RettNet is also included. Our Rett Syndrome Page The mother of a child with Rett syndrome has compiled an excellent page that includes basic information about Rett syndrome, getting support, events, newsletters from the Indiana Rett Syndrome Group, recommended readings and videos, links, and more. Rett Syndrome A fact sheet from the National Institute of Neurological Disorders and Stroke. Rett Syndrome Europe Links to Rett Syndrome organizations in western and eastern Europe.

66. Rett Syndrome Information Organization calling for rett syndrome research and education. Another great resource for finding information about rett syndrome. http://www.geocities.com/HotSprings/Spa/3247/rett_syndrome.html

Rett Syndrome International Rett Syndrome Association (IRSA) Organization calling for Rett syndrome research and education. Provides information and support to patients and their families. http://www2.paltech.com/irsa/irsa.htm National Academy for Child Development, Inc. An international organization dedicated to helping children and adults cope with developmental issues. http://www.nacd.org/index.html One to One Individualized Therapeutic Recreation A long list of therapeutic recreation links, including links for Rett Syndrome. http://www.erols.com/dawnie1/oneto1.htm Our Rett Syndrome Page Another great resource for finding information about Rett Syndrome. http://pages.prodigy.com/DebbieSchilling/irsg.htm Rett Syndrome Has technical medical information on Rett Syndrome. http://www.icondata.com/health/pedbase/files/RETTSYND.HTM Rett Syndrome Great resource page for information on Rett Syndrome, how to chat with others, personal accounts and more. http://www.familyvillage.wisc.edu/lib_rett.htm Rett~Angels Gallery A photo gallery of girls suffering with Rett Syndrome and links to their websites.

67. Rett Syndrome Research The primary objective of Rush University Medical Center research on rett syndrome is to determine the relationship between breathing, heart rate, http://www.rush.edu/rumc/page-R12511.html

Pediatric Pulmonology Pediatric Respiratory Medicine Pediatrics Pediatrics Rett Syndrome Research Program Description Rett syndrome is a debilitating neurologic disorder. Children with Rett syndrome appear to develop normally until six to 18 months of age. They then enter a period of regression, losing speech and hand skills they had acquired. Most develop seizures, repetitive hand movements, irregular breathing, and motor-control problems. They can live to adulthood, but most never regain the ability to use their hands or to speak The cause of the disorder is a defect in the MECP2 gene on the X chromosome. Rett Syndrome Research Team: Debra E. Weese-Mayer, MD, Principal Investigator Jan-Marino Ramirez, PhD, Co-Investigator Jean M. Silvestri, MD, Co-Investigator Christina M. Boothby, Project Coordinator Research support provided by the Rett Syndrome Research Foundation. Contact Name Debra E. Weese-Mayer, MD, Director Contact Phone Contact E-mail Contact_Rush@rush.edu Location Rush University Medical Center 1653 W. Congress Parkway, 727 Kellogg Pavilion

68. Breathing Disorder In Rett Syndrome Breathing Disorder in rett syndrome and the Malregulation of Autonomic Function. http://www.rush.edu/rumc/page-1099611530232.html

Pediatric Pulmonology Pediatric Respiratory Medicine Respiratory Disorders (Pediatrics) Children's Hospital Dysautonomia Study Bronchiolitis (Pediatric Study) Pediatric Asthma (Medication Study) Breathing Disorder in Rett Syndrome Clinical Trial Protocol ID Clinical Trial Investigator Name Debra Weese-Mayer, MD Clinical Trial Title Breathing Disorder in Rett Syndrome and the Malregulation of Autonomic Function Clinical Trial Protocol Description Clinical Trial Eligibility Criteria Female Between two and six years of age Contact Name Debra Weese-Mayer, MD Contact Phone Contact E-mail clinical_trials@rush.edu Clinical Trials Home Pediatric Respiratory Disorders Trials Breathing Disorder in Rett Syndrome Find a Doctor Health Information Clinical Services Rush News Room ... Site Map

69. RETT@LISTSERV.BROWN.EDU RETT@LISTSERV.BROWN.EDU. rett syndrome Forum. List name, RETT. Host name, LISTSERV.BROWN.EDU (Brown University). Subscribers, 74. Features http://www.lsoft.com/scripts/wl.exe?SL1=RETT&H=LISTSERV.BROWN.EDU

70. HHMI News: Rett Syndrome Traced To Defective Gene "Silencer" rett syndrome (RTT) is a neurodevelopmental disorder seen in young girls that causes a sudden and permanent decline in mental capabilities. http://www.hhmi.org/news/zoghbi2.html

Human Brain Is Still Evolving One Shot: Researchers Capture Pictures of Fusion Events That Enable Sperm to Penetrate Egg's Coating Human Y Chromosome Preserves Itself Better Than the Chimp Y More September 30, 1999 Rett Syndrome Traced to Defective Gene "Silencer" A 14-year search for the cause of a rare genetic disease that strikes young girls has uncovered the first example of a human disease that is linked to a defective gene silencing mechanism. Rett syndrome (RTT) is a neurodevelopmental disorder seen in young girls that causes a sudden and permanent decline in mental capabilities. In 1985, HHMI investigator Huda Zoghbi , who was then a neurology fellow, published a clinical research report on Rett syndrome. Her initial encounter with the disorder had a lasting impact on her career. Shortly after seeing her first RTT patients, Zoghbi decided to change her career plans, switching from clinical medicine to a research position. Shortly after switching to research, she started the long, tedious search for the genetic causes of RTT. Huda Y. Zoghbi

71. HHMI's BioInteractive - The Puzzle Of Rett Syndrome For many years, this was the picture of rett syndrome. This means that, at least in the mouse, rett syndrome results from the lack of the Mecp2 protein http://www.hhmi.org/biointeractive/neuroscience/rett_puzzle.html

Related Stories: Huda Zoghbi, M.D. Learning in the Lab Learning from Patients: Inspiration and Insights Polyglutamine Diseases: A Devastating Genetic Stutter The Puzzle of Rett Syndrome By Laura Bonetta A disease can be a difficult puzzle to doctors and scientists until a breakthrough starts to bring a few of the pieces together. Imagine facing a three-year-old girl who cannot speak or pick up and hold things. She has abnormal breathing and she keeps moving her hands as though she is washing them. Her parents say she was a perfectly healthy baby until sometime after her first birthday. These are the telltale signs of Rett syndrome, a severe neurological disease that strikes mostly girls. But a diagnosis is difficult. There is no test for Rett syndrome, and many of its symptoms are similar to those of cerebral palsy and autism. Even with a proper diagnosis, no one knows what causes the disease or how to treat it. Finding the Gene Zoghbi faced a formidable challenge in searching for the gene responsible for Rett syndrome. "Gene hunters" rely on families with several members suffering from a disease to trace the inheritance of the responsible gene and home in on its location in the genome. But when Zoghbi started to work on Rett syndrome in the early 1980s, there were only two known families with two affected girls in each—all other cases of Rett syndrome were isolated patients. With the help of two additional small families and collaborations with other scientists, Zoghbi's group finally found the Rett syndrome gene in 1999. This was the breakthrough everyone had been waiting for.

72. Rett Syndrome rett syndrome is a severe disorder of the nervous system. It is usually only seen in girls and affects all body movement. It causes loss of speech and hand http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Rett_syndrome?Ope

73. Coping With Rett Syndrome One symptom of rett syndrome is profound growth failure. Coping With rett syndrome was published in the February 1999 issue of Agricultural Research http://www.ars.usda.gov/is/AR/archive/feb99/rett0299.htm?pf=1

74. ► Rett Syndrome A medical encycopedia article on the topic rett syndrome. http://www.umm.edu/ency/article/001536.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Rett syndrome Overview Symptoms Treatment Prevention Definition: Rett syndrome is an inherited disorder that affects only females. The syndrome causes mental retardation and developmental degeneration. Causes, incidence, and risk factors: Rett Syndrome is a severe progressive neurological disorder that causes marked developmental regression, especially in the areas of expressive language and hand use. It occurs only in girls. The gene associated with this disorder was recently identified on the X-chromosome. This gene encodes methl-CpG-binding protein 2 (MeCP2), which regulates synthesis (transcription) of various other proteins. Synthesis of incorrect proteins, due to mutations in the gene, causes damage in the maturing brain. The severity of the disease is linked to specific types of mutation. Rett Syndrome has an estimated prevalence of seven to ten cases per 100,000 females. Females have two X chromosomes, so even when one has this significant mutation, the other X chromosome provides enough normal protein for the child to survive.

75. Rett Syndrome - Areas Of Research - MRDDRC Back to General Topics. rett syndrome. Symptoms and genetic basis. rett syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in http://mrrc.pedi.bcm.tmc.edu/research areas/rett.html

Rett syndrome Symptoms and genetic basis: Rett Syndrome is a rare neurodevelopmental disorder that occurs almost exclusively in females. Affected infants and children typically develop normally until about 7 to 18 months of age, when they may begin to lose previously acquired skills, such as purposeful hand movements and the ability to communicate. Other abnormalities typically include slowing of head growth; development of distinctive hand movements, such as hand clapping, rubbing, or "wringing"; and impaired control of walking. Affected children also typically develop autistic-like behaviors, breathing irregularities, feeding and swallowing difficulties, growth retardation, impairment of language development, and seizures. Rett syndrome is a major genetic cause of mental retardation in females. It was investigators at Baylor College of Medicine who found that most cases of Rett syndrome are caused by mutations in the gene on the X chromosome that directs production of the protein MeCP2 (methyl-CpG-binding protein). One of the mechanisms used to control the expression of genes during development is the chemical modification by methylation of parts (cytosines) of the DNA (deoxyribonucleic acid) strand. MeCP2 is one of the proteins that will bind to such methylated DNA, thus slowing down or blocking production of messenger RNA (ribonucleic acid) from the gene that is methylated. If MeCP2 is defective, reduced in amount, or absent, then the controlled blocking of methylated genes in the central nervous system does not occur properly, and genes that should be repressed are instead expressed inappropriately.

76. HUM-MOLGEN: Gene Implicated In Rett Syndrome news section of the international communication forum in human genetics hummolgen. http://hum-molgen.org/NewsGen/01-2005/msg07.html

home genetic news bioinformatics biotechnology ... register for news alert Gene Implicated In Rett Syndrome January, 11 2005 9:12 A new gene has been identified that may be involved in the pathogenesis of Rett syndrome a neurological disorder resulting in autism, seizures and loss of speech, almost exclusively in girls before the age of 18 months as reported in the January issue of Nature Genetics The primary genetic cause of Rett syndrome is a mutation in the gene MECP2, encoding a protein thought generally to affect the expression of many other genes, several of which probably contribute to the disease. The search for MECP2 'target' genes that are relevant to the development of Rett syndrome has been difficult, but Terumi Kohwi-Shigematsu and colleagues have now identified the gene DLX5 as a strong candidate. The authors found that DLX5 expression was altered in the brains of mice lacking MECP2. In humans, DLX5 is an 'imprinted' gene, and is expressed only from the copy received from one's mother. In cells from individuals with Rett syndrome, however, they found that the gene was expressed from both copies, resulting in an overproduction of the protein. DLX5 regulates the production of enzymes that synthesize gamma-aminobutyric acid (GABA), a neurotransmitter that has been linked to the development of other neurological disorders, suggesting that this pathway may have role in at least some of the features of Rett syndrome.

77. Rett Syndrome Noonan Syndrome rett syndrome SaethreChotzen Sanfilippo Syndrome Smith-Lemli-Opitz Thrombosis Panel Uniparental Disomy X-Inactivation http://www.ggc.org/Diagnostics/Molecular/rett_syndrome.htm

Rett Syndrome Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Rett Syndrome A neurodevelopmental disorder that affects females, Rett syndrome is associated with cortical atrophy, stereotypical hand movements and severe mental deficiency. With an incidence of 1 in 10,000 - 15,000, it is one of the most common causes of mental retardation in females. Rett syndrome is characterized by loss of acquired skills after a period of normal development in infancy. Mutations in X-linked methyl-CpG binding protein 2 (MECP2) which cause Rett syndrome include both nonsense (R168X and R255X) and missense (R106W and R306C) mutations. Genetic analysis for Rett Syndrome at the Greenwood Genetic Center includes complete sequencing of the entire coding region of the MECP2 gene. Specimen requirements : 5 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. Please contact the laboratory for more information. Transport : Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery. However, our lab does accept specimens on Saturdays.

78. BBC - Health - Conditions - Rett Syndrome A guide to rett syndrome. People with rett syndrome are profoundly and multiply disabled and totally dependent on others for their needs throughout http://www.bbc.co.uk/health/conditions/rettsyndrome1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Rett syndrome Dr Trisha Macnair People with Rett syndrome are profoundly and multiply disabled and totally dependent on others for their needs throughout their lives. There is currently no cure. In this article What is it? Genetic influences Further help What is it? Rett Syndrome is a complex neurological disorder, genetic in origin and predominantly affecting girls. Although signs may not be initially obvious, the condition is present at birth and becomes more evident during the second year, following an irreversible course. Typical signs include: initial normal development followed by stagnation after about one year and then regression with loss of early speech and hand movement skills, loss of walking or crawling, development of repetitive hand movements (hand-wringing), a stiff or clumsy gait, breathing problems, EEG (brainwave) abnormalities, and epilepsy (affects over 50 per cent). The gene normally shuts off production of certain proteins in the brain. When faulty, overproduction of the proteins occurs, leading to damage to the nervous system.

79. Research News: Solving The Mechanism Of Rett Syndrome rett syndrome, a neurological disease, affects girls almost exclusively. (Photo courtesy the rett syndrome Research Foundation) http://www.lbl.gov/Science-Articles/Archive/LSD-Rett-syndrome.html

lab a-z index phone book search: December 20, 2004 news releases receive our news releases by email science beat Solving the Mechanism of Rett Syndrome How the First Identified Epigenetic Disease Turns on the Genes That Produce its Symptoms Contact: Paul Preuss, (510) 486-6249, paul_preuss@lbl.gov Rett Syndrome, a neurological disease, affects girls almost exclusively. (Photo courtesy the Rett Syndrome Research Foundation) Just five years ago, Rett Syndrome was tracked to mutations in a gene on the X chromosome, . But how this gene, not previously associated with the brain or nervous system, could cause a neurological developmental disorder remained a puzzle. The research was supervised by Terumi Kohwi-Shigematsu, a biochemist with Berkeley Lab's Life Sciences Division; it reveals how mutated MeCP2 protein represses genes, and identifies some of the most important of those genes. Kohwi-Shigematsu and her colleagues, Shin-ichi Horike, Shutao Cai, Masaru Miyano, and Jan-Fang Chen, report their results in the January issue of Nature Genetics (.pdf).

80. Great Mississippi River Race For Rett Syndrome The Great Mississippi River Race for rett syndrome, May 2001 is the longest canoe/kayak marathon race in history. Five dauntless, courageous teams used only http://www.dreamkeeper.org/

The Great Mississippi River Race for Rett Syndrome, May 2001 The Race Teams Flagship Double Helix ... Mississippi River Team Kruger Team Double Helix Team Alaska Team Rebels With A Cause Amazons of the Mississippi The Great Mississippi River Race for Rett Syndrome, May 2001 is the longest canoe/kayak marathon race in history. Five dauntless, courageous teams used only human muscle powered propulsion of 2 person boats to travel 2,348 miles down the Mississippi River from Lake Itasca, Minnesota to the Gulf of Mexico. Physical and mental endurance were taken to the extreme while attempting to paddle nonstop to the Gulf of Mexico in world record time during this charity event. More importantly, participating teams and families from across the country raised awareness of Rett syndrome in the scientific community and research funds to find a cure.

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 4     61-80 of 122    Back | 1  | 2  | 3  | 4  | 5  | 6  | 7  | Next 20