101. Rett Syndrome - DNA Microarray Group rett syndrome. The knowledge of additional existing MBD proteins and their expression pattern is important in the context of rett syndrome. http://www.molgen.mpg.de/~dna_microarrays/rett.html

DNA Microarray Group Stem C ells ... Fun Rett Syndrome Methylation at CpG dinucleotides in genomic DNA is a fundamental epigenetic mechanism of gene expression control in vertebrates. Proteins with a methyl-CpG-binding domain (MBD) can bind to single methylated CpGs and most of them are involved in transcription control. So far, five vertebrate MBD proteins have been described as MBD family members: MBD1, MBD2, MBD3, MBD4 and MECP2. Solution structure of the MBD of MECP2 We performed database searches for new proteins containing an MBD and identified six amino acid sequences which are different from the previously described ones. Here we present a comparison of their MBD sequences, additional protein motifs and the expression of the encoding genes. A calculated unrooted dendrogram indicates the existence of at least four different groups of MBDs within these proteins. Two of these polypeptides, KIAA1461 and KIAA1887, were only present as predicted amino acid sequences based on a partial human cDNA. We investigated their expression by Northern blot analysis and found transcripts of ~8 kb and ~5 kb respectively, in all eight normal tissues studied. Alignment of MBD of all family members Eleven polypeptides with a MBD could be identified in mouse and man. The analysis of protein domains suggests a role in transcriptional regulation for most of them. The knowledge of additional existing MBD proteins and their expression pattern is important in the context of Rett syndrome.

102. OMIM - RETT SYNDROME; RTT http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312750

103. Rett Syndrome Information Information Sheet from the National Institute of Neurological Disorders and Stroke, NIH International rett syndrome Association support and http://www.ncbi.nlm.nih.gov/disease/rett.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on chromosome X Databases PubMed the literature Key paper Recent literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Information Sheet from the National Institute of Neurological Disorders and Stroke, NIH International Rett Syndrome Association support and information for families RETT SYNDROME (RTT) is a progressive neurodevelopmental disorder that almost exclusively affects females. It has an incidence of about 1 in 10,000 births, making it one of the most common causes of profound mental retardation in girls. Individuals with RTT develop normally until the age of 6 to 18 months, when they begin to lose purposeful use of their hands and speech. Affected individuals also show reduced muscle tone, wringing hand movements, autistic-like behavior and seizures. A gene which causes RTT, , has been found on the long arm of chromosome X (Xq28). Normally, females have two X chromosomes and males have an X and a Y. Since males do not have an additional copy of X to offset a defect, most X-linked diseases affect males. Then, why are males not affected by RTT? One possible explanation is that the absence of a functional copy of

104. Dani S Story, Rett Syndrome One of the most important things about me is that although I have rett syndrome and can no longer talk, I still have plenty to say. http://www.faculty.fairfield.edu/fleitas/dani.html

105. Welcome D©finitions du syndrome de l' autisme et du syndrome de rett. Informations sur diagnostic et ©valuation, int©gration, prise en charge et intervention. http://tecfa.unige.ch/tecfa/teaching/UVLibre/9899/mer004/welcome.htm

L'AUTISME INFANTILE AU SOMMAIRE : HISTOIRE Psychoses QU'EST-CE QUE C'EST ? Syndrome de l'autisme ... Top

106. Ladders.ORG : Learning & Developmental Disabilities Evaluation & Rehabilitation Dedicated to Research in Autism, Pervasive Developmental Disorder (PDD), Asperger's syndrome, rett's syndrome, Fragile X and Other Developmental Brain Disorders. http://ladders.org/tarf/

SITEMAP Home Ladders The Early Years Executive Summary ... Donate Sitemap

107. Autism Society Of Alabama Information, news and discussions about the autistic spectrum disorders Autism, Asperger's syndrome, Pervasive Developmental Disorder (PDD), rett's syndrome, and related disorders. http://www.autism-alabama.org/

Autism Society of Alabama Home About ASA Contact us Donations / Join ASA ... Upcoming Events The 2004 Walks for Autism were a huge success! Thank you to all of our walk coordinators and participants who insured its success! 3 Articles in Montgomery Advertiser -April 20, 2004 A Great Opportunity for families in Montgomery, May 8th-Ice Cream Social Workshop Retreat focusing on Transition AUTISM SPECTRUM DISORDERS are complex developmental disorders that affect social skills, communication and behavior and usually appear before the age of three. Autism Spectrum Disorders affect 1 in 150 individuals and range from mild to severe. Although there is no cure to date, appropriate intervention enables these individuals to live productive and happy lives. People with Autism are able to live active, meaningful lives once their special needs are met. Some of these needs include: Education • Employment • Financial Assistance • Support Services • And most importantly ... LOVE You can help these individuals through: Increased Involvement - Volunteerism • Financial Contributions Remember that individuals with Autism Spectrum Disorders are individuals first; therefore

108. Rett, Syndrome : Arborescences MeSH Translate this page rett, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots clés http://www.chu-rouen.fr/navimesh/R/navirettsyndrome.html

Rett, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies maladies neurodégénératives maladies neurodégénératives héréditaires amyotrophies spinales enfance ... Unverricht-Lundborg, syndrome 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

109. Idaho Mountain Express: Local Mom Hopes To Educate Others About Retts Syndrome Local mom hopes to educate others about Retts syndrome. http://www.mtexpress.com/1998/10-14-98/rett.htm

For the week of October 14 thru October 20, 1998 Local mom pushes for awareness of rare Rett syndrome By AMY SPINDLER Express Staff Writer Anne Marie shares a moment with her mother, Heather Gonzolas. (Express photos by Charmaine McCann October is awareness month for Rett syndrome, a rare and terminal disease that almost exclusively affects girls, halting brain development between the ages of 6 to 18 months, according to the International Rett syndrome Association, an organization of parents and professionals who support research about and awareness of the disease. Anne Marie cannot walk or talk and shows other common signs of Retts that include wringing her hands together constantly and grinding her teeth. She is also affected with severe scoliosis, osteoporosis, respiratory problems and epilepsy, all correlated to Retts. "Finding out that Annie had Retts was the scariest thing that’s happened to me in my life," said her mother, Heather Gonzolas, who also describes her daughter as her saving grace and the light of her life. "Annie is like a little book-you can read her face and know exactly what she wants," Gonzolas said. "It’s the same with an infant except we’ve had seven years to learn her."

110. Syndrome-de-rett.org Translate this page l’Association Française du syndrome de rett a pour objectifs de soutenir les familles, faire connaître la maladie, promouvoir la recherche et agir pour la http://www.syndrome-de-rett.org/

111. Rett's Syndrome (www.whonamedit.com) rett s syndrome A symptom complex only observed in girls, with the main features of autism, dementia, ataxia and purposeless hand movements. rett s syndrome http://www.whonamedit.com/synd.cfm/2197.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Rett's syndrome Associated persons: Andreas Rett Description: A symptom complex only observed in girls. The child develops normally for 6 to 12 months, and then the disease manifests in the age 6 months to 4 years. It is a progressive neurodevelopmental disorder characterised by acquired microcephaly, severe dementia, autism, purposeless hand movements, characteristic hand-wringing stereotypy, and jerky ataxia of the trunk. Hypotonia (loss of muscle tone) is usually the first symptom. Inheritance is probably X-linked dominant with lethality in the hemizygous males. The disorder was originally described by Andreas Rett of Austria in 1966, but was not known worldwide until two decades later following a report by Hagberg et al describing 35 affected girls from Sweden, Portugal, and France. The syndrome affects approximately 1 in every 10,000-15,000 live female births. The gene causing the disorder has now been identified. In the spring of 1965, Andreas Rett observed two young girls sitting on their mothers’ laps in his waiting room. Like mirror images of each other, they were petite and profoundly disabled and were wringing their hands together incessantly. After searching his files, Dr. Rett found six other girls with a similar clinical picture and wrote the first description of the syndrome that now bears his name.

112. Musicothérapie Et Autisme, Place De La Musique Durant La Grossesse G©n©ralit©s avec principes et axes propos©s; la th©rapie appliqu©e   l'autisme et aux troubles envahissants du d©veloppement syndromes de Kanner, Asperger, Angelman, rett. La place de la musique durant la grossesse. Liens. http://www.musicotherapie.org/

Accueil Accueil Principes et Musique et grossesse Musique et ... Liens

113. Www.rettsyndrome.net Translate this page www.rettsyndrome.net. hochzeitstag great gift idea hochzeitsschmuck braut kleid leipzig mieten text vorlage brautvater hochzeitsfilm http://www.rettsyndrome.net/

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114. ORPHANET - Maladies Rares - Médicaments Orphelins http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=778

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