81. Dani's Story, Rett Syndrome But as the rett syndrome started taking over, people thought that I must have Cerebral Palsy. They just didn t know, but while they were trying to figure me http://www.lehman.cuny.edu/faculty/jfleitas/bandaides/dani.html

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. Most folks think that because I can't talk, I must not understand what they're saying, or that I must be deaf, and so they shout at me. What's frustrating for me is that they're the ones who don't understand! My mom says that I have a pure spirit, and she tells me that I'm an angel sent to teach everybody what life is really all about. To describe me to someone who doesn't know me is difficult. Like all girls with this weird syndrome, and only girls get it, I have involuntary hand movements. Sometimes I wring my hands, sometimes I clap, and sometimes it looks like I'm trying to wash them. I'm not, it's just something that happens. I also have a unique movement. I cover my mouth with my right hand and flick the fingers of my left hand on my shoulder. I can't help that, but I can use my left hand in another way, too, a way that makes a lot more sense. I can use it to say "yes"! The best thing about me is my spirit and my smile. I have a smile that my mom says knocks people out, and I have this indomitable spirit. One time I almost died because of an infection in my lungs, but I fought hard to live and well, here I am today.

82. Rett Syndrome, The First Identified Epigenetic Disease - Linked To Specific Defe ? Sometime between the age of 6 and 18 months, after a period of seemingly normal development, girls affected with rett syndrome lose interest in play; http://www.news-medical.net/?id=6892

83. New Research Findings In Study Of Rett Syndrome ? Rudolf Jaenisch of the Whitehead Institute of Biomedical Research in Cambridge, MA reports in the April 6, 2004 online issue of the Proceedings of the http://www.news-medical.net/?id=340

84. Health Care Information Resources Rett Syndrome Links rett syndrome Links. For more information, see Dystonia, rett syndrome rett syndrome Association UK complex inherited neurological disorder affecting http://www-hsl.mcmaster.ca/tomflem/rett.html

The address of this page is: http://hsl.mcmaster.ca/tomflem/rett.html Rett Syndrome Links For more information, see: Dystonia , also in the Illness section of this resource. For more information, see: Genetic Disorders , also in the Illness section of this resource. For more information, see: Women's health problems , also in the Illness section of this resource. Rett syndrome - Rett Syndrome Association UK complex inherited neurological disorder affecting women only Rett syndrome - Ontario Rett Syndrome Association supporting Ontario families with Rett syndrome Rett syndrome - International Rett Syndrome Association information, support, links to other sites Rett syndrome - Rett Syndrome Research Foundation Rett syndrome - Rett Syndrome Resources information about Rett Syndrome and genetic testing Rett syndrome - Belgian Rett Syndrome Site maintains a bibliography of articles on Rett Syndrome Rett syndrome - Rett Angel personal accounts and diagnostic info Please read

85. CCR: NIGMS HGCR: Rett Syndrome Collection rett syndrome (OMIM 312750) is a progressive neurological disorder that is The clinical variability of rett syndrome is broad and studies to assess http://locus.umdnj.edu/nigms/phenotype/rett.html

CCR NIGMS NIA NINDS ... LMS Quickfind... Animals Characterized Mutations Cell Types CEPH Families Chromosome Aberrations Controls Dysmorphology Gene Pathways HapMap Resource Human Variation Hybrids Inherited Disorders Extended Families Phenotypic Overviews Polymorphism Resource SNP500 Resource Special Collections Search NIGMS Catalog Search Help Quickfind... Animals Char. Mutations Cell Types CEPH Families Chrom. Aberrations Controls Dysmorphology Gene Pathways HapMap Resource Human Variation Hybrids Inherited Disorders Extended Families Phenotypic Overviews Polymorphism Res. SNP500 Resource Special Collections Repository Overview About NIGMS Diseases and Gene Variants Controls Search ... Site Map Rett syndrome collection Rett syndrome (OMIM # ) is a progressive neurological disorder that is inherited in an X-linked dominant fashion. The clinical variability of Rett syndrome is broad and studies to assess genotype-phenotype correlation have been inconsistent. Our collection of Rett syndrome cell lines came from thirty-four individuals, twenty-four of whom are affected with Rett syndrome. There are twenty-three affected females and one affected male ranging in age from two to thirty years. The ten unaffected individuals are first-degree relatives of the affected individuals. Of the twenty-four affected individuals, nineteen have an identified mutation in the gene (OMIM # ). There are twelve different

86. Special Child: Disorder Zone Archives - Rett Syndrome rett syndrome (RS) is a genetic disorder that is characterized by an initial period It was once believed that rett syndrome was a degenerative disorder, http://www.specialchild.com/archives/dz-002.html

Disorder Zone Archives Rett Syndrome Naomi Catford-Robinson Rebecca Morris Introduction Rett syndrome (RS) is a genetic disorder that is characterized by an initial period of normal development, followed by a loss of communication skills and purposeful hand movements. It is a disorder that is seen almost exclusively in females and occurs in a variety of racial and ethnic groups worldwide. RS has just recently been traced to a defective gene on the X chromosome called MeCP2. It is estimated that the incidence of RS is between 1 in every 10,000 to 15,000 live female births. Features and Characteristics Rett syndrome is often mistaken for autism, cerebral palsy, and mental retardation. However, no other condition has a period of rapid deterioration followed by stabilization and sometimes even improvements in autistic features, eye contact, and stereotypical hand movements. Since there is no form of laboratory testing for RS, diagnostic criteria and exclusionary criteria have been formed for the recognition of the syndrome. The following characteristics must be found in order to receive a diagnosis of RS: Normal development until approximately 6 to 18 months of age Normal head circumference at birth, followed by a slowed growth rate anywhere from 3 months to 4 years of age

87. Rett Syndrome Is Caused By Mutations In X-linked MECP2, Encoding Methyl-CpG-bind rett syndrome1 (RTT, MIM 312750) is a progressive neurodevelopmental Examination of X chromosome markers in rett syndrome exclusion mapping with a http://www.nature.com/uidfinder/10.1038/13810

@import "/ng/style.css"; nature.com homepage Login My account ... Browse by subject Search This journal All of nature.com Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/13810 Rett syndrome is caused by mutations in X-linked , encoding methyl-CpG-binding protein 2 Ruthie E. Amir , Ignatia B. Van den Veyver , Mimi Wan , Charles Q. Tran , Uta Francke Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA. Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA. Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California 94305 , USA. Correspondence should be addressed to Huda Y. Zoghbi

88. Rett Syndrome Definition - Medical Dictionary Definitions Of Popular Medical Ter Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=11960

89. PM - Rett Syndrome Breakthrough It may not have the same level of public awareness but rett syndrome is the second most common form of mental retardation in girls after Downs Syndrome A http://www.abc.net.au/pm/content/2005/s1428697.htm

ABC Home Radio Television News ... Mark Colvin presents PM Monday to Friday from 5:10pm on Radio National and 6:10pm on ABC Local Radio. Join Mark for the latest current affairs, wrapping the major stories of each day. AM The World Today Correspondents Report More Current Affairs: Select program 7.30 Report Australian Story Background Briefing Business Breakfast Foreign Correspondent Four Corners Inside Business Insiders Landline Lateline Transcript This is a transcript from PM. The program is broadcast around Australia at 5:10pm on Radio National and 6:10pm on ABC Local Radio. You can also listen to the story in REAL AUDIO and WINDOWS MEDIA and formats. Rett Syndrome breakthrough PRINT FRIENDLY EMAIL STORY PM - Tuesday, 2 August , 2005 18:53:01 Reporter: Emma Jolliff PETER CAVE: It may not have the same level of public awareness, but Rett Syndrome is the second most common form of mental retardation in girls, after Down's Syndrome. A genetic brain disorder, it affects a child's movement, balance and learning. In a breakthrough that could lead to new screening and treatment therapies, researchers at a Sydney hospital have discovered that the severity of the disease is determined by whether the faulty gene is passed down from the father or the mother, as Emma Jolliff reports. EMMA JOLLIFF: Alarmingly, symptoms of Rett Syndrome don't appear until a child is around one-year-old. At this age a seemingly normal child can start to exhibit a variety of symptoms.

90. Rett Syndrome rett syndrome Association UK is a registered charity which offers support to rett syndrome is a neurological disorder which occurs only in females and http://omni.ac.uk/browse/mesh/D015518.html

low graphics Rett Syndrome other: Canavan Disease Cockayne Syndrome Hepatolenticular Degeneration Hereditary Central Nervous System Demyelinating Diseases ... Rett Syndrome Association UK Rett Syndrome Association UK is a registered charity which offers support to females affected by Rett Syndrome, as well as the carers of these girls and women. Rett Syndrome is a neurological disorder which occurs only in females and those affected are totally dependent on others for their needs. The Rett Syndrome Association UK (RSAUK) provides support for its members in a variety of ways such as, office help, self-support groups, contact supporters network, CarersLine and out of office hours contact numbers. This site provides details about these services, their newsletter, and information about the syndrome. Rett Syndrome Organizations, Nonprofit Great Britain Charities ... International Rett Syndrome Association The home page for the International Rett Syndrome Association. The site contains information about Rett (a neurological disorder seen almost exclusively in females), case studies, a discussion group for professionals and the parents of Rett syndrome girls, events, publications, news updates and research contacts. Rett Syndrome Organizations, Nonprofit

91. Scientists Create First Animal Model Of Rett Syndrome - MIT News Office Researchers from the Whitehead Institute for Biomedical Research have created the longawaited animal model for rett syndrome. http://web.mit.edu/newsoffice/2001/rett-0321.html

Skip to content massachusetts institute of technology news office advanced search news recent research campus by topic ... archives services request images subscribe submit news promote news ... media inquiries about us news office info MIT background contact Scientists create first animal model of Rett syndrome Nadia Halim, Whitehead Institute March 21, 2001 Researchers from the Whitehead Institute for Biomedical Research have created the long-awaited animal model for Rett syndrome, one of the most common causes of mental retardation in females with an incidence of one in 10,000-15,000. The transgenic mouse model sheds much-needed light on the underlying mechanism of the disease and suggests a new reason for hope in the research toward therapies. Rett syndrome, caused by a defective gene on the X-chromosome, is thought to have a lethal effect in males before birth or shortly after. Girls with Rett syndrome (and two copies of the X chromosome) are healthy babies who develop normally until six to eighteen months old. But then something goes terribly wrong their health deteriorates and they begin to show symptoms such as loss of speech, loss of voluntary motor control, constant hand wringing and seizures. The work, published in the March issue of Nature Genetics by MIT Professor of Biology Rudolf Jaenisch and colleagues, suggests that the genetic defect underlying Rett syndrome has an effect not only during brain development before birth but has critical, prolonged effects even after birth. Since it is easier to treat newborns than to correct defects in embryonic development, these findings may hold promise for future therapies.

92. Lamotrigine & Rett Syndrome Lamotrigine rett syndrome. This article submitted by Veronica Morley (a parent) on My daughter, Rachael, was diagnosed with rett syndrome at age 3. http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/Lamotrigin

This article submitted by Veronica Morley (a parent) on 5/23/95. My daughter, Rachael, was diagnosed with Rett Syndrome at age 3. At age 4 she began to have seizures. These have been primarily tonic-clonic seizures, but also a few atonic seizures."Tegretol" (carbamazepine)was the most effective anticonvulsant. When it no longer controlled the seizures, Rachael was switched to"Lamictal" (lamotrigine),which has worked very well so far, with the unexpected benefits of increased alertness, and increased purposeful hand use. Unfortunately, I can find very little information on this new drug. What are the side effects? Any consequences of long term use? Thank you in advance for your assistance. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... more about Lamotrigine please (4/11/96) 1:00 PM RettNet (10/20/95) 11:09 PM My experience with Lamotrigine (9/21/95) 3:42 AM (7/16/95) 3:49 AM ... Lamotrigine for Rett (5/25/95) 10:14 AM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article!

93. Neurology -- Collected Resources : Rett Syndrome rett syndrome. 1 Citation displayed. Chorea Botulinum toxin Multiple system atrophy rett syndrome Myoclonus Spastic paraplegia http://www.neurology.org/cgi/collection/rett_syndrome

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH RESULT QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Rett Syndrome 1 Citation displayed. Most recent content (23 Nov 2004): BRIEF COMMUNICATIONS Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation V. Leuzzi, M. L. Di Sabato, M. Zollino, M. L. Montanaro, and S. Seri Neurology 2004; 63: 1968-1970. [Abstract] [Full text] [PDF] Collected Resources Home Related collections: Movement Disorders All Movement Disorders Dystonia Blepharospasm ... Multiple system atrophy Rett Syndrome Myoclonus Spastic paraplegia HOME HELP ... SEARCH RESULT

94. Rett Syndrome Association Of Massachusetts The rett syndrome Association of Massachusetts is a nonprofit organization founded in 1989 by a group of parents and professionals to provide support, http://www.orgsites.com/ma/rsam/

What is Rett syndrome? Past Agendas News September 2005 S M T W T F S October 2005 S M T W T F S Click Here for Full Calendar 2004 Officers and Board: President: Irene Gladstone Vice Presidents: Paula Curley Maria McTernan Treasurer: Kathy Schoener Clerk: Irene Gladstone Board of Directors: Jane Ambash Pam Blanchette Elaine Costello Allen Crocker Larry Fallon Diane Hughson Cathy Merrill Mary Wood Links Section RETT SYNDROME RESEARCH FOUNDATI INT'L RETT SYNDROME ASSOCIATION RETT SYNDROME FORUM Rett Syndrome Association of Massachusetts The Rett Syndrome Association of Massachusetts (RSAM) is a non-profit organization founded in 1989 by a group of parents and professionals to provide support, education and information to area families as well as to the medical and educational communities. The RSAM is governed by a Board of Directors consisting of parents and professionals. Goals of the Association provide family support promote Rett syndrome awareness support Rett research efforts host support group meetings, speaker forums and family gatherings Our meetings are usually held on the second Thursday of the month. Check the calendar for details and a map.

95. Epilepsy Action: Rett Syndrome rett syndrome is a condition which occurs in 1 in 1015000 girls. Girls with rett syndrome develop normally for the first 6 months of life. http://www.epilepsy.org.uk/info/rett.html

HOMEPAGE EPILEPSY INFORMATION FREE EMAIL UPDATES OUR SERVICES ... STAFF VACANCIES SHOP AND DONATE EPILEPSY ACTION SHOP TESCO ONLINE GROCERIES AMAZON.CO.UK and more Epilepsy Action is a working name of British Epilepsy Association. British Epilepsy Association is a Registered Charity (Registered in England No. 234343). Rett Syndrome Rett Syndrome is a condition which occurs in 1 in 10-15,000 girls. It does not appear to affect boys. The cause in unknown and it usually does not affect more than one girl in a family. Symptoms Girls with Rett Syndrome develop normally for the first 6 months of life. Between 6 months and 2½ years (often between 6 - 18 months), their development slows up and may even go backwards. They become less interested in play, lose the ability to speak and possibly become irritable. They stop using their hands purposefully and they may, instead, begin to move their hands in a repetitive way, often with hand-wringing movements. Epilepsy is not uncommon, but usually begins after the age of 2 years. The seizures may be of various types including generalised tonic clonic, absences, myoclonic jerks, atonic and tonic. Often, more than one seizure types is present. Frequently, girls with Rett Syndrome have periods of rapid or slow breathing. These periods are sometimes associated with faints, which can be mistaken for epileptic seizures.

96. UAB Health System | Unveiling The Mysteries Of Rett Syndrome Since diagnostic criteria for rett syndrome were first established in 1985, Girls born with rett syndrome show an early period of apparently normal http://www.health.uab.edu/show.asp?durki=55670

97. AllRefer Health - Rett Syndrome rett syndrome information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/rett-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Rett Syndrome Rett Syndrome Definition Treatment Expectations or Prognosis Complications ... Go To Main Page Definition Rett syndrome is an inherited disorder that affects only females. The syndrome causes mental retardation and developmental degeneration. 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.

98. Syndrome De Rett : Sites Et Documents Francophones Translate this page Synonyme(s) MeSH Rett, syndrome. Voir aussi retard mental . Arborescence(s) du thesaurus MeSH contenant le mot-clé syndrome de Rett rett syndrome http://www.chu-rouen.fr/ssf/pathol/rettsyndrome.html

Syndrome de Rett Synonyme(s) CISMeF Rett. Synonyme(s) MeSH Rett, syndrome Voir aussi retard mental Arborescence(s) syndrome de Rett rett syndrome maladies du système nerveux maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : Qualificatifs : diagnostic guide ressources Rett, syndrome de [Par Pr Mancini J. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2004 ; autre accès description détaillée de la maladie ; visité le : 14/07/01]. mots clés : signes et symptômes *syndrome de Rett *syndrome de Rett /diagnostic type : *association patients *guide ressources *structure recherche *texte patient AFSR - Association Française du Syndrome de Rett ; pays : France ; ville : Paris ; langue : français ; format : html ; accès : gratuit ; non parrainé ; visité le : 09/07/01].

99. Rett Syndrome Clinic with rett syndrome are unique and therefore require specialized care. Though there is currently no cure for rett syndrome, there are many treatments to http://www.childrenshospitaloakland.org/t_healthcare.cfm?id=489

100. Rett Syndrome - DNA Microarray Group rett syndrome. Methylation at CpG dinucleotides in genomic DNA is a In rett syndrome another MBD might take over the role of the nonfunctional MeCP2. 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.

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