41. HealthlinkUSA Fragile X Syndrome Links Compare a wide range of leading sites for fragile x syndrome. Click here for page 1 of fragile x syndrome information from the HealthlinkUSA directory. http://www.healthlinkusa.com/118ent.htm

42. Fragile X Syndrome - Definition From The Merriam-Webster Online Dictionary Definition of fragile x syndrome from the MerriamWebster Online Dictionary with audio pronunciations, thesaurus, Word of the Day, and word games. http://m-w.com/dictionary/fragile x syndrome

Home Visit Our Sites Unabridged Dictionary Learner's Dictionary ... Contact Us Also Visit: Unabridged Encyclopedia Britannica Visual ESL: Learner's for Kids: Spell It! Word Central Dictionary Thesaurus Spanish/English Medical Search "fragile X syndrome" in: Thesaurus Spanish/English Medical Dictionary Open Dictionary Browse words next to: fragile X syndrome Browse the Dictionary: A B C D ... Z fragile x syndrome One entry found. fragile X syndrome Main Entry: fragile X syndrome Function: noun Date: fragile X Learn more about "fragile X syndrome" and related topics at Britannica.com See a map of "fragile X syndrome" in the Visual Thesaurus Pronunciation Symbols Products Premium Services ... Advertising Info

43. Fragile X Australia Online My name is Janine and I have three teenagers, two of whom have fragile x syndrome. My interest in supporting others began with my involvement in the set up http://www.fragilexonline.com/

Home Page News Medical/Genetics Genetic Info ... Registration Members Log In Login Administrator Blast Chat Welcome to Fragile X Online Hi Everyone This website is dedicated to people with Fragile X, their families and carers. The aim of the site is to: Provide support for those dealing with the challenges of Fragile X Sydrome. Publish information about Fragile X medical, support, respite and educational resources available in Australia. Inform about current Fragile X news and research. Allow members to share personal stories and experiences through a forum and chat room. Provide links to other valuable online Fragile X resources. Our aim is to make this a community site, responsive to our readers needs, providing information and support for those with an interest in Fragile X Syndrome and associated conditions. Please feel free to join in by leaving comments on our posts with questions, ideas or observations and participate in our forums; where we hope to to have lively and interesting discussions. If you do not feel comfortable leaving a public message then please contact us.

44. HHMI News: Discovery Points To Treatment Approach For Fragile X Syndrome New research has found that many of the symptoms of fragile x syndrome, the most common cause of inherited mental retardation, can be eliminated in mice by http://www.hhmi.org/news/bear20071220.html

triggerParms["lf"] = 2; Common Molecule Notifies Immune System of Prostate Cancer Small RNAs Can Prevent Spread of Breast Cancer Host Cell Proteins Could be HIV's Achilles' Heel More FOR FURTHER INFORMATION: Jennifer Michalowski michalow@hhmi.org Jim Keeley keeleyj@hhmi.org Howard Hughes Medical Institute 4000 Jones Bridge Road, Chevy Chase, MD 20815-6789 December 20, 2007 Discovery Points to Treatment Approach for Fragile X Syndrome New research has found that many of the symptoms of fragile X syndrome, the most common cause of inherited mental retardation, can be eliminated in mice by reducing the expression of a single gene in the brain. The study suggests that the gene is a prime target for drugs to alleviate symptoms of the disorder, for which there is currently no specific treatment. Howard Hughes Medical Institute investigator Mark Bear and his colleagues reported their findings in the December 20, 2007, issue of the journal Neuron . G¼l D¶len, a member of Bear's laboratory at Massachusetts Institute of Technology, was the lead author of the research article. Bear and D¶len collaborated with researchers at Brown Medical School, India's National Institute of Mental Health and Neuroscience, and the Tata Institute of Fundamental Research in Bangalore, India. Mark F. Bear

45. Fragile X Syndrome fragile x syndrome, fragile x syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental http://www.umm.edu/ency/article/001668.htm

Information Referring Physicians Health Care Professionals Job Seekers ... Encyclopedia (English) Toggle: English / Spanish Services at the UM Medical Center See a complete list of Specialty Services and Departments at UMMC. Fragile X syndrome Overview Symptoms Treatment Prevention Definition: Fragile X syndrome is a genetic condition involving changes in part of the X chromosome . It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. Alternative Names: Martin-Bell syndrome; Marker X syndrome Causes, incidence, and risk factors: Fragile X syndrome is caused by a change in the FMR1 gene. The gene's code is repeated on a fragile area of the X chromosome. The more repeats, the more likely there is to be a problem. Normally, the FMR1 gene makes a protein you need for for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it. Review Date: 6/24/2007 Reviewed By: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospitalof Philadelphia, Philadelphia, PA. Review provided by VeriMed HealthcareNetwork.

46. Mary Ann Liebert, Inc. - Genetic Testing - 11(2):153 Your browser may not have a PDF reader available. Google recommends visiting our text version of this document. http://www.liebertonline.com/doi/abs/10.1089/gte.2006.0508

The Leading Publisher in Biotechnology advanced search Home About Us Browse ... Contact Us Hello. Sign in to personalize your visit. New user? Register now Genetic Testing PCR Approach for Detection of Fragile X Syndrome and Huntington Disease Based on Modified DNA: Limits and Utility To cite this paper: Monica Alejandra Rosales-Reynoso, Elisa Alonso Vilatela, Rosario Macias Ojeda, Aura Arce-Rivas, Lucila Sandoval, Rogelio Troyo-Sanroman, Patricio Barros-Nunez. Genetic Testing. 2007, 11(2): 153-159. doi:10.1089/gte.2006.0508. Elisa Alonso Vilatela Rosario Macias Ojeda Aura Arce-Rivas Lucila Sandoval Full Text PDF: HiRes for printing (147.8 KB) PDF Plus w/ links (146.2 KB) Help with PDFs Add to favorites E-mail to a colleague Track citations ... Download metadata TOC Alert Citation Alert What is RSS? Most read papers Most cited papers Related papers in: Liebert Online Search: Liebert Online genSideQuickSearch('8','medline','PubMed'); genSideQuickSearch('16','crossref','CrossRef'); for Authors: Elisa Alonso Vilatela Rosario Macias Ojeda Aura Arce-Rivas Lucila Sandoval Keyword: Advanced Search Home About Us Browse ... Mary Ann Liebert, Inc., publishers

47. FRAGILE X SYNDROME : Contact A Family - For Families With Disabled Children: Inf Physical features ascribed to fragile x syndrome include a relatively large head, a long face with prominent ears, largish jaw and doublejointedness. http://www.cafamily.org.uk/Direct/f33.html

printer friendly FRAGILE X SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Fragile X is the most common identifiable form of inherited intellectual disability (see entry, learning disability ). It has a prevalence of about 1 in 4,000 males and 1 in 8,000 females. The cause is an abnormal expansion of DNA just above the tip of the X chromosome's long arm, which may be passed from one generation to the next. Intellectual disability varies from mild to severe. Girls and women who have a fragile X chromosome are often of normal intelligence. However up to a third have learning problems which are usually mild or moderate but can occasionally be severe. Other problems experienced by affected individuals include delayed and distorted speech and language development. There can be difficulties with the social use of language, with continuing speech anomalies, repetitive behaviour, attention deficits and overactivity, and autistic-like features, such as poor eye contact, hand flapping, social anxiety, abnormal shyness and an insistence on routine. Physical features ascribed to fragile X syndrome include a relatively large head, a long face with prominent ears, largish jaw and double-jointedness. However these are rarely obvious in affected individuals. Ten to thirty per cent of people with fragile X syndrome develop

48. MD Fragile X Homepage A community of families in and around the WashingtonBaltimore metro area that have children affected by fragile x syndrome. Includes news, upcoming events, http://www.mdfragilex.org/

Blink('prem_hint'); New Lending Library Events Family Fun Gene Buddies Golf Tournament Guestbook Lending Library Links Meeting Minutes MDFX Inc News NewsLetters Resources VolleyBall 4th VB Classic Welcome to the Maryland Fragile X Resource Group The Maryland Fragile X Resource Group is a community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome. We are a very active group providing mutual support and education, promoting awareness of Fragile X and actively participating in funding research on Fragile X. The group was founded in August of 1999 and currently supports 80 families. We welcome all who share this common interest and hope that you find the information presented on this site beneficial. What is Fragile X? Fragile X Syndrome is now recognized as the leading hereditary cause of developmental and learning disabilities. Approximately 1/400 individuals in the general population are believed to carry the gene for the condition. Males are usually more severely affected than females. While most boys have mental retardation, one-half to two-thirds of girls have normal IQ or learning disabilities. Emotional and behavioral problems are common in both sexes.

49. NLH - Genetic Conditions - Fragile X Syndrome 6 Compiled by GenePool May 2005 Author Kathryn Leask The Least You Need to KnowCoffee Break SummaryPitfalls to AvoidFind Out MoreClinical http://www.library.nhs.uk/genepool/ViewResource.aspx?resID=88079

50. Fragile X Syndrome fragile x syndrome is the most common cause of inherited developmental delay. It is caused by a recessive gene mutation on the long arm of the X sex http://www.drhull.com/EncyMaster/F/fragile_X_syndrome.html

Help for sleepless parents Guaranteed Unlimited personal help Encyclopedia Index F fragile X syndrome Search fragile X syndrome Fragile X syndrome is the most common cause of inherited developmental delay. It is caused by a recessive gene mutation on the long arm of the X sex chromosome. Some degree of intellectual impairment is present in affected patients, ranging from mild to severe, but usually moderate. Most children with fragile X syndrome suffer from attention problems as well, and may have a variety of other problems including speech disorders, hand mannerisms and autistic behaviors, and emotional problems. Prevalence in males: 1 in 1,000 to 2,000. Many are learning disabled, others are retarded. About one in 260 women is a carrier. Of these, about 70% of girls carrying the mutation are apparently unaffected. The other 30% may show mild symptoms or may be mentally retarded. This syndrome should be at least considered in any case of unexplained developmental delay, especially in males. Of course, genetic counselling for the family, both immediate and extended, is crucial.

51. Fragile X Syndrome Corrected In tests on mice researchers significantly alleviated a wide range of abnormalities due to fragile x syndrome by altering a single gene. http://www.inthenews.co.uk/news/health/science/fragile-x-syndrome-corrected-$118

Breaking News: No punishment for Arsenal pair Sachin: Hundred for Sir Don Flamini wants new deal Sculthorpe in England return ... Rogue trader costs bank billions Your source for news Web: Site: News Economy Health Politics ... Books Reference Free Brochures Competitions Quizzes Health Story 24 January 2008 22:57 BST Fragile X syndrome corrected Thursday, 20 Dec 2007 09:20 Scientists say the breakthrough could lead to a treatment for fragile X Printer friendly version Sponsored Links Mobile Phone Tracking - From 2p a Day Use FollowUs to locate your home or employee mobile phones. Free registration and low cost pay-as-you-go, with no monthly or set up fees charged like our competitors. www.followus.co.uk Scientists claim to have made a breakthrough that could lead to a potential treatment of the fragile X disorder. This disorder is the most common form of mental retardation and is a leading identified genetic cause of autism. There is currently no treatment or therapy for the syndrome, whose symptoms include epilepsy and abnormal body growth. In tests on mice researchers significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering a single gene.

52. UNPM Fragile X Syndrome fragile x syndrome (FrX) is the most common inherited form of mental retardation in males with an estimated frequency of 1/4000. It is caused by the absence http://intramural.nimh.nih.gov/unpm/fragile-x.htm

Fragile X syndrome (FrX) is the most common inherited form of mental retardation in males with an estimated frequency of 1/4000. It is caused by the absence of the fragile X mental retardation protein (FMRP) encoded by the silenced fragile X mental retardation gene (Fmr1). How the lack of FMRP results in mental retardation and the function of FMRP in the normal brain are subjects of considerable interest. One approach to these issues is the study of a fragile X knockout (fmr1 KO) mouse, which does not express FMRP and has some of the characteristics of patients with fragile X syndrome, including enlarged testicles, long, thin dendritic spines, some subtle spatial learning abnormalities, auditory hypersensitivity and increased susceptibility to audiogenic seizures. The fmr1 KO, therefore, appears to be a good animal model for the human disorder and permits an assessment of the effect of the Fmr1 mutation on a constant genetic background. Our behavioral studies showed that fmr1 KO mice exhibit hyperactivity and a higher rate of entrance into the center of an open field compared with controls, suggesting decreased levels of anxiety. Their performance on a passive avoidance task was impaired, which suggested a deficit in learning and memory. In an effort to understand what brain regions are involved in the behavioral abnormalities, we measured regional cerebral metabolic rates for glucose (rCMRglc) in 38 regions in adult male fmr1 KO and wild-type (WT) littermates with the quantitative autoradiographic [14C]deoxyglucose method. We found rCMRglc was higher in all 38 regions in fmr1 KO mice, and in 26 of the regions differences were statistically significant [1]. Differences in rCMRglc ranged from 12% to 46%, and the greatest differences occurred in regions of the limbic system and primary sensory and posterior parietal cortical areas. Regions most affected were consistent with behavioral deficiencies and regions in which FMRP expression is highest. Higher rCMRglc in fragile X mice may also be a reflection of abnormalities found in dendritic spines.

53. Autism Society Of NC Bookstore: Fragile X, Fragile Hope Finding Joy In Parenting a Child with Special Needs X Stories The Personal Side of fragile x syndrome Code BXST01 http://store.appcomm.net/Merchant2/merchant.mv?Screen=CTGY&Store_Code=ASNC&Categ

54. Trinucleotide Repeats: Fragile-X Syndrome Detailed information on trinucleotide repeats, including fragile x syndrome. http://www.stlouischildrens.org/tabid/88/itemid/1186/Trinucleotide-Repeats-Fragi

Search home find a doctor services ... employment Recent Pages Enter Search Criteria Printer Friendly Email A Friend Enter e-mail address of recipient: (Use a comma to separate multiple e-mail addresses.) Enter your e-mail address: Message to attach: We use this address only to tell the recipient who sent the message. We do not save or re-use it in any way. Send Email Cancel Trinucleotide Repeats: Fragile-X Syndrome Trinucleotide Repeats: Fragile-X Syndrome What are trinucleotide repeats? DNA, the chemical that makes up our genes, contains a "code" of three letter words known as "codons" or "trinucleotide repeats." Many genes normally contain a trinucleotide repeat which is present several times. When the number of trinucleotide repeats increases to a larger than normal number of copies, the DNA is altered, and the gene may not function properly, or may not work at all. It is not well understood what causes a trinucleotide repeat to expand into more than the usual number of copies that should be in a gene. Sometimes, a person may have more than the usual number of copies, but not enough to alter the function of the gene. These individuals are referred to as "premutation carriers." When they pass on these extra copies to a child, however, the extra trinucleotide repeats cause the DNA to become unstable, and the area of DNA expands even more. The result is that the child has a gene that no longer functions, or is not functioning properly and they are said to have the "full mutation." An example of a trinucleotide repeat disease is Fragile-X syndrome.

55. Fragile X Syndrome - Better Health Channel. fragile x syndrome is an inherited condition that can cause various degrees of intellectual disability. It affects males more than females. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Fragile_X_syndrom

Health and medical information for consumers, quality assured by the Victorian government (Australia). 25 January, 2008 Home Fact sheets by category Diseases and conditions Genetic ... Other conditions Health information Fact sheets by category Fact sheets - A to Z All about Personal stories ... Health news Healthy eating Healthy recipes Food fact sheets Gardening and health Healthy interactive Ask the experts Quizzes Health tools Directories Health services Health events calendar Activity finder Support groups ... Other languages Fragile X syndrome Fragile X syndrome is a genetic disorder caused by an alteration in the X chromosome (that is, a change in the DNA structure). It results in a wide range of developmental, physical and behavioural problems, and is the most common known cause of inherited intellectual disability. Prevalence estimates for Fragile X syndrome vary; the best estimate is that about one in 4,000 males has this syndrome. Fragile X syndrome varies in its presentation The most significant effects of Fragile X are: Developmental delay Intellectual disability Behavioural problems Mimicking.

56. HDlighthouse.org: BDNF, Fragile X Syndrome, And Memory Researchers restored the capacity to retain new memories in fragile x syndrome mice by infusing BDNF to the hippocampus region. http://www.hdlighthouse.org/showUpdate.php?p_articleNumber=505

57. Fragile X Overview fragile x syndrome is the most common known cause of mental retardation and developmental For descriptions of young boys with fragile x syndrome, http://www.fpg.unc.edu/~fx/Pages/overvu.htm

Overview HOMEPAGE FX OVERVIEW RESEARCH FINDINGS ... RESOURCES What is Fragile X Syndrome? Physical Features, Development, Behavior, Genetic Aspects, Detection, Inheritance. Early Identification. Supporting Extended Families, Treatments, Fragile X and Autism Fragile X syndrome is the most common known cause of mental retardation and developmental disabilities, with an incidence of between 1:2500 and 1:4,000 births. It is a single gene disorder on the X chromosome that occurs in both males and females, but males are typically affected more severely. The disorder can be passed down through generations in a carrier status, with increasing chances of the gene expanding into the full disorder. FXS shuts down the gene responsible for producing FMRP, a protein essential for normal brain function. What are the effects of fragile X syndrome? Fragile X is associated with a wide spectrum of characteristics, which may or may not be seen in a given individual. In Young Boys BEHAVIOR Varies widely among individuals Sociable and loving personality Enjoyment of humor and fun High activity level Short attention span Perseveration (repetition of phrases and activities) Impulsivity Stereotypic movements such as hand flapping, toe walking, spinning objects

58. Fragile X Syndrome fragile x syndrome is the most common geneticallyinherited form of mental retardation currently known. In addition to intellectual disability, http://www.kidneeds.com/diagnostic_categories/articles/fragilexsyndrome.htm

FRAGILE X SYNDROME Introduction Fragile X syndrome is the most common genetically-inherited form of mental retardation currently known. In addition to intellectual disability, some individuals with Fragile X display common physical traits and characteristic facial features, such as prominent ears. Children with Fragile X often appear normal in infancy but develop typical physical characteristics during their lifetime. Mental impairment may range from mild learning disability and hyperactivity to severe mental retardation and autism. This genetic syndrome is caused by a defect on the X chromosome. Because of scientific advances, improvements in genetic testing, and increased awareness, the number of children diagnosed with Fragile X has increased significantly over the last decade. We do not yet have a complete understanding of the mechanism of genetic transmission of Fragile X. For example, it is not known why approximately one-fifth of males who carry mutated forms of FMR-1 are either unaffected or only mildly affected. In some cases, a single copy of the Fragile X gene is sufficient to cause the syndrome in females. The situation is made more complex by the fact that the intensity of the symptoms increases with succeeding generations. The observable characteristics of Fragile X occur in approximately 1 in 1,000 male births and 1 in 2,500 female births.

59. Fragile X Syndrome Partly Cured In Mice (ABC Science Online) Scientists have used genetic engineering to improve brain development, memory and reduce seizures in mice with fragile x syndrome (Source iStockphoto) http://www.abc.net.au/science/articles/2007/12/20/2123905.htm

Search the ABC ABC Home Radio Television ... Podcasts Print Email to a friend Fragile X syndrome partly cured in mice Thursday, 20 December 2007 Maggie Fox Reuters Scientists have used genetic engineering to improve brain development, memory and reduce seizures in mice with fragile x syndrome (Source: iStockphoto) Related Stories Autism cause partially reversed in mice , Science Online, 29 Jun 2007 Death of Y may spawn new human species X chromosome helps explain complex females Genetic engineering can correct the worst symptoms in mice of fragile X syndrome, the most common inherited cause of mental retardation and autism, US researchers report. They say a drug may do the same thing as their gene tinkering, perhaps providing a treatment for fragile X syndrome and other causes of retardation and autism, too. Fragile X causes seizures, impaired memory, learning disabilities, hyperactivity, severe mental retardation and accelerated body growth. It is caused by a mutation in a gene on the X chromosome that prevents activation, or expression, of a protein called fragile X mental retardation protein or FMRP. There is no treatment.

60. Fragile X Syndrome: Keep Kids Healthy Conditions fragile x syndrome, a common cause of mental retardation in males, and its symptoms and treatments. http://www.keepkidshealthy.com/welcome/conditions/fragile_x.html

Bookstore Site Map Contact Us Help ... What's New? Search this site: Advanced Search Main Menu Health Library Parenting Experts Ask the Pediatrician Index of Topics ... Web Links Online Resources What's New Reviews Growth Charts Online Forums ... Pediatric News Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Mental Retardation Related Links Mental Retardation Autism ADHD Speech Delays ... Diseases and Conditions Fragile X Syndrome by Barb Durso, MD What is Fragile X Syndrome? Fragile X Syndrome is the most common inherited cause of mental retardation . Although many of us have heard of Trisomy 21 or Down Syndrome as a cause of mental retardation, few of us are familiar with Fragile X Syndrome. The exact prevalence of Fragile X Syndrome is not certain, but is believed to occur in about 1 out of every 2000 boys and 1 out of 4000 girls. Some studies indicate that up to 6% of mentally retarded males may be found to have Fragile X Syndrome. Because Fragile X Syndrome is inherited, it is important to understand a little bit about the genetics behind it. All women carry two X chromosomes, and all men carry one X and one Y chromosome. The X and Y chromosomes are the so-called sex chromosomes. Located on the X chromosome is a gene called

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