61. Fragile-X Syndrome fragile x syndrome. FragileX Syndrome, Great Ormond Street Children'sHospital and the Institute of Child Health, United Kingdom. http://www.kumc.edu/gec/support/fragilex.html

Fragile X Syndrome FRAXA Research Foundation 45 Pleasant St. Newburyport, MA 01950 Phone: (978) 462-1866 Fax: (978) 463-9985 Web site: http://www.fraxa.org E-mail: fraxa@seacoast.com or kclapp@fraxa.org Information in English, Japanese, German, Spanish, French or Hebrew National Fragile X Foundation P.O. Box 190488 San Francisco, California 94119 800-688-8765 or 510-763-6030 Fax 510-763-6223 E-mail: natlfx@sprintmail.com Web site: http://www.nfxf.org or http://fragilex.org/ Fragile X Research Foundation of Canada (Fondation Canadienne de Rescherche sur le Syndrome de Fragilite' du Chromosome X), English, French, and Portuguese (including links to other organizations Also see: National organizations information on genetic conditions or birth defects Fragile X Syndrome: Diagnostic and Carrier Testing , when and how to test for fragile-X syndrome Policy Statement, American College of Medical Genetics Fragile X , Society for Neuroscience Brain Briefings, 1998 Fragile X Association of Germany (Online der Interessengemeinschaft Fragiles-X e.V.)

62. Marja-Leena Väisänen. Fragile X Syndrome In Northern Finland. ISBN 951-42-5377 fragile x syndrome in Northern Finland. Molecular, diagnostic andpopulation genetic aspects. MarjaLeena Väisänen. Department of http://herkules.oulu.fi/isbn9514253779/

Library units Collections Databases What's new ... index.html Fragile X syndrome in Northern Finland Molecular, diagnostic and population genetic aspects Marja-Leena Väisänen Department of Clinical Genetics, University of Oulu Academic Dissertation to be presented with the assent of the Faculty of Medicine, University of Oulu, for public discussion in Auditorium 1 of the University Hospital of Oulu, on October 8th, 1999, at 12 noon. University of Oulu Manuscript received 7 September 1999 Manuscript accepted 13 September 1999 Communicated by Professor Marja-Liisa Savontaus Docent Kalle O.J. Simola UNIVERSITY OF OULU, OULU FINLAND 1999 ISBN 951-42-5377-9 URN:ISBN:9514253779 Abstract Fragile X syndrome, the most common inherited form of mental retardation syndrome, is caused by an expansion of the CGG trinucleotide repeat in the 5' UTR of the gene, with concurrent hypermethylation of the region, which represses expression. The syndrome is associated with the folate-sensitive chromosomal fragile site at Xq27.3 (FRAXA), where the gene responsible for the syndrome was first localized by linkage analysis using RFLP markers. In this study the linkage relationships of the RFLP markers at Xq27-28 and the characteristics of the CGG repeat expansion were investigated in northern Finnish fragile X families and molecular diagnostic methods were applied in order to improve diagnosis of the syndrome. Furthermore, the origin of fragile X mutations in the northern part of Finland was studied by haplotype analysis.

63. Kennedy Krieger Institute Fragile X Syndrome Print this page fragile x syndrome fragile x syndrome is a hereditary condition whichcauses a wide range of mental impairment, from mild learning disabilities http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=1086

64. Kennedy Krieger Institute Fragile X Syndrome fragile x syndrome fragile x syndrome is a hereditary condition which causes awide range of mental impairment, from mild learning disabilities to severe http://www.kennedykrieger.org/accessible/kki_diag.jsp?pid=1086

65. Fragile X Syndrome - Companion Resources Resources on fragile x syndrome from Companion Resources. fragile x syndrome. FragileX syndrome is the leading known inherited cause of mental retardation. http://www.cresources.org/fragilex/

Fragile X Syndrome Fragile X syndrome is the leading known inherited cause of mental retardation. The condition is due to a lengthening of a gene on the X chromosome, one of the set of chromosomes which determine the gender of a person. The lengthening of the Fragile X Mental Retardation gene (FMRP1) shuts off the ability of brain cells to make a protein necessary for normal brain functioning. The effects of the shortage or lack of this protein range from mild learning disabilities to severe autistic tendencies. There is no cure for fragile X syndrome, but many early intervention therapies and newer medications can help alleviate some of the effects and allow many persons to lead productive lives. Fragile X syndrome is a fertile research area in the booming field of genetics. Therefore, there is much more information available than a few years ago. This page guides you to some of the major fragile X sites on the web, starting with major sites in the U.S

66. Fragile X Syndrome fragile x syndrome. Introduction. fragile x syndrome is the most common geneticallyinheritedform of mental retardation currently known. 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.

67. Fragile X Syndrome fragile x syndrome is an inherited condition that can cause various degrees of intellectualdisability. It affects males more than females. fragile x syndrome. http://www.disability.vic.gov.au/dsonline/dsarticles.nsf/pages/Fragile_X_syndrom

68. HHMI News: Understanding Key Protein In Fragile X Syndrome Understanding Key Protein in fragile x syndrome. A model of the FMRPcontainingribonucleoprotein particle containing the indicated http://www.hhmi.org/news/warren.html

RESEARCH NEWS RESEARCH NEWS GRANT ANNOUNCEMENTS SCIENCE EDUCATION NEWS INSTITUTE NEWS ... HHMI HOME ALSO OF INTEREST Genes and Diseases: Fragile X Syndrome The National Fragile X Foundation Download this story in Acrobat PDF format. (requires Acrobat Reader Understanding Key Protein in Fragile X Syndrome A model of the FMRP-containing ribonucleoprotein particle containing the indicated proteins and polyadenylated mRNA. Fragile X syndrome, the most common inherited form of mental retardation, results from a mutation that affects how genetic messages are ferried from the cell's nucleus to its protein manufacturing apparatus. The identification of three new molecules integral to the protein shuttling process has researchers bearing down on the cellular mechanisms that underlie fragile X syndrome, and perhaps other causes of mental retardation as well. For a condition with such a delicate-sounding name, fragile X syndrome can cause a number of powerful effects, ranging from learning disability and hyperactivity to severe mental retardation. Mutations in the gene produce the disorder, and

69. Fragile X Syndrome ERIC Clearinghouse on Disabilities and Gifted Education. fragile x syndrome(April 1998). What information do you have on fragile x syndrome? http://ericec.org/faq/fragilex.html

Fragile X Syndrome (April 1998) The ERIC Clearinghouse on Disabilities and Gifted Education (ERIC EC) The Council for Exceptional Children 1110 N. Glebe Rd. Arlington, VA 22201-5704 Toll Free: 1.800.328.0272 E-mail: ericec@cec.sped.org Internet: http://ericec.org What information do you have on Fragile X Syndrome? The following information is from the FRAXA Research Foundation. Symptoms of fragile X syndrome include: Mental impairment, ranging from learning disabilities to mental retardation Attention deficit and hyperactivity Anxiety and unstable mood Autistic-like behaviors Long face, large ears, flat feet, and Hyperextensible joints, especially fingers Boys are typically more severely affected than girls. While most boys have mental retardation, only one-third to one-half of girls have significant intellectual impairment; the rest have either normal IQ or learning disabilities. Emotional and behavioral problems are common in both sexes. Fragile X syndrome is the single most common inherited cause of mental impairment. Current estimates of its prevalence vary, but some experts believe that fragile X affects at least 1 in 1000 males and females of all races and ethnic groups. More conservative estimates put the frequency at 1 in 1500 males and 1 in 2500 females (Warren, Jama, Feb. 16, 1994 - Vol.271, No.7, p.536)

70. Fragile X Syndrome fragile x syndrome up. fragile x syndrome / diagnosis fragile x syndrome /genetics fragile x syndrome / diagnosis. Screening for fragile x syndrome, http://omni.ac.uk/browse/mesh/detail/C0016667L0016667.html

Fragile X Syndrome [up] Fragile X Syndrome / diagnosis Fragile X Syndrome / genetics Related topics: broader Mental Retardation other Down Syndrome Mental Retardation Williams Syndrome Fragile X Society The Fragile X Society is a UK based charity that was founded in 1990. It aims to provide support and information for Fragile X families, educate, inform and advise the public and professionals, and to encourage research into all aspects of the syndrome. The Web site contains general details about the Society, as well as information for the public. Charities Fragile X Syndrome Great Britain Your genes, your health Your Genes, Your Health is an ongoing project providing a multimedia guide to human genetic disorders. Provided by the DNA Learning Center, Cold Spring Harbor Laboratory and funded by a grant from the Josiah Macy, Jr Foundation, this project features Fragile X syndrome, Marfan syndrome, cystic fibrosis, hemophilia, Duchenne/Becker muscular syndrome, and phenylketonuria (PKU). Discussed are the causes, symptoms, treatment, incidence, testing and screening procedures for these syndromes. Throughout the guide there are relevant links to resources available from the DNA Learning Center. This multimedia guide requires Flash Player and QuickTime Player (TM) in order to view the video clips and hear the audio clips. A glossary of terms is provided. Fragile X Syndrome Genetic Diseases, Inborn

71. Fragile X Publications Early development, temperament, and functional impairment in autism and fragile Xsyndrome. Early developmental trajectories of males with fragile x syndrome. http://www.fpg.unc.edu/~fx/Pages/publications.htm

Publications References Click on a reference to see its abstract: Journal of Autism and Developmental Disorders, 30 American Journal on Mental Retardation, 103, Journal of Autism and Development Disorders, 31 American Journal on Mental Retardation, 106, ... Behavior Research Methods, Instruments, and Computers, The research basis of autism intervention (pp.75-89) New York: Kluwer Academic/Plenum Publishers. Developmental Medicine and Child Neurology, 41 Journal of Early Intervention, 23, Journal of the American Association for Pediatric Ophthalmology and Strabismus, Hatton, D ... Resources

72. NIMH - Mental Health Aspects Of Fragile X Syndrome: Treatment Research Perspecti Mental Health Aspects of fragile x syndrome Treatment Research Perspectives.November 1617, 2001 Neuroscience Center Rockville, Maryland. http://www.nimh.nih.gov/research/fragilex.cfm

Mental Health Aspects of Fragile X Syndrome: Treatment Research Perspectives November 16-17, 2001 Neuroscience Center Rockville, Maryland Meeting Report (includes agenda and participants) The primary purpose of this meeting was to identify mental health needs specific to people with Fragile X syndrome and to explore the possibility of developing treatments for mental health aspects of childhood FXS based upon current research knowledge or upon knowledge that could be rapidly developed from current work. In general, it appears that behavioral and mental health aspects of FXS are the greatest impediments to these individuals leading normal lives. * PDF (Portable Document Format) files can be read using Adobe's (TM) Acrobat(TM) Reader. This program, which you must install once on your computer, allows you to view, navigate and print PDF documents as they were published. You will need to download and install a copy of the Acrobat Reader in order to use this files. In addition, you can view PDF files through your browser by installing the Web browser plug-ins . You must install the Acrobat Reader first. Posted: July 03, 2002

73. Fragile X Syndrome MAY 1997. Fmr1 Knockouts A Model of the fragile x syndrome. Phenotypes OnLine MendelianInheritance in Man fragile x syndrome. GeneCard FMR1. SWISS-PROT FMR1. http://tbase.jax.org/docs/fragile.html

Current Features in TBASE by Anna V. Anagnostopoulos MAY 1997 Fmr1 Knockouts: A Model of the Fragile X Syndrome May 1997 features a follow-up study on mice homozygous for a null allele, encoding the fragile X mental retardation syndrome 1 homolog Comery et al., demonstrate that -deficient mice exhibit abnormal dendritic spines in the visual cortex, using the Golgi-Cox impregnation technique. The aberrant dendritic spine morphology and density, as well as the behavioral deficits and macroorchidism previously reported by the Dutch-Belgium Fragile X Consortium in 1994 , suggest that the Fmr1-knockout may provide a suitable model for the Fragile X Syndrome in man KNOCKOUT-RELATED SITES History Selected Reading Similar Knockout Phenotypes Database Links ... Your Suggestions on this Feature History 1994 - The Dutch-Belgium Fragile X Consortium reports learning deficits, hyperactivity and macroorchidism in mice lacking the FMR1 protein. 1997 - Comery et al. report maturation and pruning deficits in the visual cortex of Fragile X knockout mice. 1999 - Weiler IJ and Greenough WT report that Fragile X knockout mice, like human Fragile X patients, have excess numbers of long, thin, immature-appearing dendritic processes, suggesting that FMRP plays a role in the process whereby synaptic activity during development results in structural and functional maturation of the synapse.

74. MSRGSNet/Genetic Drift/Management Of Common Genetic Disorders 16 Summer, 1998. fragile x syndrome. Introduction fragile x syndrome is anXlinked disorder and occurs with equal frequency in all ethnic groups. http://www.mostgene.org/gd/gdvol16d.htm

Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders Vol. 16: Summer, 1998 Fragile X Syndrome Introduction Fragile X syndrome is the most common cause of inherited mental retardation with an incidence of approximately 1 in 2000 male, and 1 in 2500 female, live births. The carrier frequency in females is 1/259 and in males is 1/755. Fragile X syndrome is an X-linked disorder and occurs with equal frequency in all ethnic groups. Fragile X syndrome is responsible for approximately 10% of all cases of inherited mental retardation and 30% of cases of X-linked mental retardation. The gene responsible for fragile X syndrome is located on the X chromosome and is known as the Fragile X Mental Retardation 1 (FMR1) gene. Within the FMR1 gene is a specific region of CGG repeats. Individual with fewer than 40 repeats are not at risk to pass on fragile X syndrome to their offspring. Individuals with 55 to 200 repeats are said to carry the FMR1 premutation. Male individuals with more than 200 repeats have fragile X syndrome. Females with more than 200 repeats have a 50-70% risk to have a low or borderline IQ and a 30-50% chance to have a normal IQ. Approximately 60% of females with more than 200 repeats and a normal IQ have learning problems and emotional or behavioral difficulties. There are a few reports in the literature documenting fragile X syndrome due to deletions of the FMR1 gene, but the vast majority of cases are the result of expansion of the CGG triplet repeat within the FMR1 gene. Expansion occurs when the gene mutation is passed from the mother to the child.

75. Special Child: Disorder Zone Archives - Fragile X Syndrome Disorder Zone Archives. fragile x syndrome TJ Therrell. Eric Therrell. She suggesteda couple of things, including something called fragile x syndrome. http://www.specialchild.com/archives/dz-008.html

Disorder Zone Archives Fragile X Syndrome TJ Therrell Eric Therrell Introduction Fragile X is a genetic disorder that is caused by a break or weakness on the long arm of the X chromosome (females have two X chromosomes and males have one X and one Y). The gene where the break or weakness has occurred has been named FMR1 (Fragile X Mental Retardation-1). Because of this defect, the gene cannot manufacture the protein that it normally makes, which causes the features and characteristics of the syndrome. Fragile X is estimated to occur in 1 in 1,200 males and 1 in 2,500 females. It occurs in all racial, ethnic, and socioeconomic groups. It is said to be one of the most common genetic diseases and is the most common inherited cause of learning disabilities and mental retardation known to exist. Features and Characteristics There are several physical and behavioral characteristics that are associated with fragile X, however, not every individual has all the characteristics. The following is a list of the most common traits: Long narrow face Prominent ears, jaw, and forehead

76. Inclusive Technology - Fragile X Syndrome fragile x syndrome. What is Fragile X? fragile x syndrome is the mostcommon inherited cause of learning disability (mental handicap). http://www.inclusive.co.uk/support/fragilex.shtml

home catalogue search downloads ... support organisations Fragile X Syndrome The following information is provided by The Fragile X Society. What is Fragile X? Fragile X Syndrome is the most common inherited cause of learning disability (mental handicap). It occurs more in boys than in girls and is associated with varying degrees of learning difficulty. Boys who are affected almost always have some learning difficulty ranging from mild learning difficulties to severe handicap. Girls are often of normal intelligence but up to a third have learning problems which may be mild or moderated but are occasionally severe. The behaviour features include short attention span, distractibility, impulsiveness and overactivity. Shyness and social withdrawal are often seen in girls who may have difficulties in making friends. Many show autistic-like features - a dislike of eye contact, difficulty in relating to other people, anxiety in social situations often leading to tantrums, insistence on familiar routines and hand flapping or hand biting. Speech and language is usually delayed with continuing speech difficulties and some children and adults develop epilepsy.

77. Fragile X Syndrome fragile x syndrome effects more males than females; and is causedby a chromosomal defect. One strand of the DNA chromosomes is http://users.zoominternet.net/~cnaron/FragileX.html

Mom updated on Monday, September 30, 2002 Mom's "Tour" Previous "Tour" Page Mom's Home Continue Mom's "Tour" Fragile X syndrome effects more males than females; and is caused by a chromosomal defect. One strand of the DNA chromosomes is not the length it should be, but rather it is MANY times greater than normal. Fragile X syndrome causes learning disabilities, educational problems, attention difficulties, and entails some degree of mental retardation. The symptoms are similar to those of an autistic child; except the Fragile X child is described as being hyperactive, very social/loving, and able to perform in the classroom beyond what their diagnostic tests results would suggest. Children with this syndrome generally learn in wholes rather than parts; have a history of otitis media (ear aches associated with fluid in the ear); are flat-footed; and sometimes have a larger head and higher palate in the mouth than normal. However, those affected reportedly do not reverse pronouns ("I" for "you" - for example) like autistic persons do. Fragile X syndrome can sometimes be suggested by these physical characteristics but a diagnosis could only be confirmed through a professional genetics counselor or geneticist . This person would ask you numerous questions regarding medical history for your child and his/her family (as many generations as the information is available for) to determine if they felt that your child was at risk for having this defect before actually performing any DNA testing. They can also tell you if what your child is experiencing is called

78. MEDLINEplus Medical Encyclopedia: Fragile X Syndrome fragile x syndrome. There are very few outward signs of fragile x syndromein babies but one is a tendency to have large head circumference. http://www.nlm.nih.gov/medlineplus/ency/article/001668.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Fragile X syndrome Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names Martin-Bell syndrome; Marker X syndrome Definition Return to top A genetic condition characterized by mental retardation, which is caused by changes in the long arm of the X chromosome Causes, incidence, and risk factors Return to top Fragile X syndrome is the most common form of inherited mental retardation in males and a significant cause in females. The condition occurs in approximately 1 out of 2,000 males and in 1 in 4,000 females. The inheritance is different from common dominant or recessive inheritance patterns. A fragile area on the X chromosome tends to repeat bits of the genetic code. The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is more likely to affect them more severely. Symptoms Return to top Family history of fragile X syndrome, especially a male relative

79. Fragile X Syndrome fragile x syndrome up. Related topics FMR1 and the fragile x syndrome,FMR1 and the fragile x syndrome is one in a series of fact http://bioresearch.ac.uk/browse/mesh/detail/C0016667L0016667.html

Fragile X Syndrome [up] Related topics: other Down Syndrome Oculocerebrorenal Syndrome FMR1 and the fragile X syndrome FMR1 and the Fragile X Syndrome is one in a series of fact sheets available from the Human Genome Epidemiology Network (HuGENet) which summarise information about a particular gene, its variants, and associated diseases. Authored by Dana C. Crawford and published in July 2001, this fact sheet discusses the fragile X mental retardation- 1 (FMR1) gene, prevalence of gene variants, disease burden, gene interactions, laboratory tests, and population testing. References and links to relevant Web sites are also provided. This fact sheet is produced by the Office of Genetics and Disease Prevention (OGDP) at the National Center for Environmental Health (NCEH), and made available on the Web by the US Centers for Disease Control and Prevention (CDC). Epidemiology, Molecular Fragile X Syndrome Genetics, Population Human ... Trinucleotide Repeats Last modified 21/Mar/2003 [Low Graphics]

80. Fragile X Syndrome fragile x syndrome. Affected Males Mental retardation; Long, thin faces prominent jaw; Large, protuberant ears; Macroorchidism; Austistic http://gucfm.georgetown.edu/welchjj/netscut/genetics/FragileX.html

Fragile X Syndrome Affected Males Mental retardation Long, thin faces prominent jaw Large, protuberant ears Macroorchidism Austistic behaviour Unique X-linked Inheritance Pattern: 20% of males who inherit the gene are unaffected carriers 50% of heterozygous females have components of disorder 30% of females are mentally retarded 50% of obligate carriers do not express the gene No affected offspring arise as a direct result of new mutation NEJM Genetics Net Scut Home Please direct all comments to: Jack Welch, M.D., Ph.D. Last modification: February 21, 1998

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