81. Fragile X Syndrome Screening for fragile x syndrome a literature review and modelling study Assessment of screening strategies for fragile x syndrome in the UK http://omni.ac.uk/browse/mesh/D005600.html

low graphics Fragile X Syndrome Fragile X Syndrome Fragile X Syndrome / diagnosis Fragile X Syndrome / genetics other: Adrenoleukodystrophy Rett Syndrome Fragile X Syndrome 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. Patient Education Genetics, Medical Genetic Diseases, Inborn Fragile X Syndrome Fragile X Syndrome / diagnosis Screening for fragile X syndrome Review [Publication Type] Prenatal Diagnosis Mass Screening ... Screening for Fragile X syndrome : a literature review and modelling study This review aims to bring together the findings of the two previous Health Technology Assessment (HTA) reports that investigated population and targeted screening methods for Fragile X syndrome (FXS) and carriers, and recommended prenatal screening of all low-risk women and cascade testing of high-risk women. Authored by Dr Fujian Song et al, and published in August 2003, this review is made available on the Web by the National Coordinating Centre for Health Technology Assessment at the University of Southampton's Wessex Institute for Health Research and Development. The executive summary is available in HTML, and the full-text document is available in PDF, which requires Adobe Acrobat Reader.

82. Fragile X Syndrome fragile x syndrome Updated July 29, 2005 Genetics of fragile x syndrome Genetic Testing More about What Is fragile x syndrome? http://www.noah-health.org/en/genetic/conditions/fragilex/

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Genetic Diseases Change text size: Fragile X Syndrome Updated: July 29, 2005 What Is Fragile X Syndrome? The Basics Diagnosis and Symptoms Genetics of Fragile X Syndrome Genetic Testing Care and Treatment Medications and Their Complications Therapies Living with Fragile X Syndrome Basic Considerations Complications and Concerns Educational Issues Information Resources Researched by NOAH Contributing Editor: NOAH Team NOAH Genetic Diseases Specific Conditions > Fragile X Health Topics Index A to Z Page of the Month Advanced Search ... Feedback

83. Fragile X Syndrome Your Genes, Your Health fragile x syndrome A forum for discussion of fragile x syndrome, a singlegene disorder which is the 1 cause of inherited http://www.eduref.org/cgi-bin/print.cgi/Resources/Specific_Populations/Disabilit

Printer friendly text Home Specific Populations Disabilities Fragile X Syndrome Internet Sites Discussion Groups Organizations Internet Sites: * Your Genes, Your Health: Fragile X Syndrome Provides information on the causes, symptoms, diagnosis, and treatment of Fragile X. http://vector.cshl.org/ygyh/mason/ygyh.html?syndrome=fragx * Questions and Answers about Fragile X This information is provided by the Fraxa Research Foundation. http://www.fraxa.org/html/about.htm * The National Fragile X Foundation - Education Includes information for schools establishing a program for a child with Fragile X Syndrome. http://www.fragilex.org/html/education.htm * Carolina Fragile X Project "This web site is designed to increase public awareness and understanding of young children with fragile X syndrome (FXS)." http://www.fpg.unc.edu/~fx/ Discussion Groups: * fragilex A forum for discussion of fragile X syndrome, a single-gene disorder which is the #1 cause of inherited mental retardation. To subscribe: 1. Go to:

84. Fragile X Syndrome Clinic The fragile X clinic at Rush was started in 1991 to meet the unique needs of children with the syndrome, the most common form of inherited mental http://www.rush.edu/rumc/page-R12247.html

Neurological Surgery Pediatric Neurology Pediatrics Neurological Disorders (Pediatrics) Neurological Care Fragile X Outcome Measures Fragile X Syndrome Clinic Program Description Services Provided Services include: Comprehensive medical assessments and management of individuals with fragile X syndrome Family counseling Diagnosis of fragile X syndrome by DNA testing Patients must have a diagnosis of fragile X syndrome to make an appointment, which are often made two to three months in advance. In clinic, Dr. Berry-Kravis can make recommendations regarding medical problems, all neurological issues (for instance, seizures), medications for behavior, prescriptions and referrals to therapy, some aspects of educational management, and genetic testing and counseling. Clinical Team Elizabeth Berry-Kravis, MD, PhD, a pediatric neurologist with training in biochemistry and molecular biology, directs the Fragile X Clinic at Rush. Dr. Berry-Kravis has been involved in research and clinical work with individuals with fragile X syndrome for 14 years, and was recently honored at the National Fragile X Conference with the National Fragile X Foundation Jarrett Cole Clinical Award. Contact Name Fragile X Clinic at Rush Contact Phone Contact E-mail contact_rush@rush.edu

85. FXIC -- Screening For Fragile X Syndrome For most families of children with fragile x syndrome, finding a diagnosis for Newborn screening could identify fragile x syndrome shortly after birth. http://www.fpg.unc.edu/~fxic/SubCatIndex.cfm?ID=28

86. Fragile X Syndrome The term fragile x syndrome is commonly used to refer to the syndrome caused by (CGG)n Males with full mutations will develop the fragile x syndrome, http://www.cmgs.org/BPG/Guidelines/2nd_ed/fragile_x_syndrome.htm

Workshops 1992, 1996 Guidelines prepared by David Barton . First draft of this edition, 1 May 1998 IMPORTANT NOTICE: THESE GUIDELINES ARE AT A DRAFT STAGE. THEY ARE POSTED HERE FOR COMMENTS, CORRECTIONS AND AMENDMENTS, AND SHOULD NOT BE USED TO GUIDE LABORATORY PRACTICE UNTIL FORMALLY PUBLISHED. 1. NOMENCLATURE AND GENE ID Locus FRAXA Gene FMR-1 OMIM # GeneCard Fragile X 2. DESCRIPTION OF THE DISEASE: Fragile X syndrome (a.k.a. Martin-Bell Syndrome, FRAX) is an X-linked syndrome of mental reatrdation associated in a proportion of cases with dysmorphic features including large everted ears, coarse facies, elongated face and macro-orchidism. Behavioural disturbances including hyperactivity or autistic-like behaviour may be present. Females can also be affected. Approximately one third of female carriers of full mutations will have mild to moderate mental retardation. Most recent publications on the prevalance of FRAX estimate that the disease affects approximately 1 in 5,000 males. 3. THE GENE

87. Fragile X Syndrome fragile x syndrome is caused in the vast majority of cases by expansions at a The term fragile x syndrome is commonly used to refer to the syndrome http://www.cmgs.org/BPG/Guidelines/1st_ed/fx.htm

Workshops 1992, 1996 Guidelines prepared by David Barton Fragile X syndrome is caused in the vast majority of cases by expansions at a (CGG)n repeat sequence in the promoter region of the FMR-1 gene . Expansion of the array above about 200 repeats, accompanied by methylation of the adjacent CpG island, extinguishes expression of the gene. Deletions and point mutations in the FMR-1 coding sequence have also been reported to cause the syndrome . CGG repeat alleles in the 55-200 range are unstable at meiosis and are referred to as premutations. The basis of the most commonly used diagnostic test is sizing of the repeat array by Southern blotting. This is often combined with methylation analysis by restriction enzyme digestion with a methylation-sensitive enzyme. The term "Fragile X syndrome" is commonly used to refer to the syndrome caused by (CGG)n expansions and other lesions in the FMR-1 gene - the FRAXA locus. However, it is now clear that a small number of families which would cytogenetically have been classed as Fragile X have expansions at the nearby FRAXE locus, which also contains an unstable (CGG)n repeat . This repeat can be analysed by PCR as described below. Southern blot analysis Detecting full expansions The most commonly used enzymes are EcoRI and HindIII, which give normal fragments of approximately 5.1kb. Several equivalent probes are used, particularly Ox1.913 and StB12.314.

88. Genetic Counseling For Fragile X Syndrome: Recommendations Of The National Socie fragile x syndrome (also known as MartinBell syndrome, marker X syndrome, Patients in whom the diagnosis of fragile x syndrome is strongly suspected or http://www.guideline.gov/summary/summary.aspx?ss=15&doc_id=2546&nbr=1772

89. Genetic Counseling For Fragile X Syndrome: Recommendations Of The National Socie Primary Counseling Considerations fragile x syndrome (FXS). Comprehensive FXS genetic counseling for individuals and families in whom the diagnosis of FXS http://www.guideline.gov/summary/summary.aspx?doc_id=2546

90. Shared Neurobiology Of Fragile X Syndrome And Autism Shared Neurobiology of fragile x syndrome and Autism pathophysiological mechanisms common to both fragile x syndrome (FXS) and autism (including autism http://www.fedgrants.gov/Applicants/HHS/NIH/NIH/PA-05-108/Grant.html

Shared Neurobiology of Fragile X Syndrome and Autism General Information Document Type: Grants Notice Funding Opportunity Number: PA-05-108 Posted Date: May 12, 2005 Original Due Date for Applications: Multiple Receipt Dates - See Link to Full Announcement for details. Current Due Date for Applications: Multiple Receipt Dates - See Link to Full Announcement for details. Archive Date: Aug 01, 2008 Funding Instrument Type: Grant Category of Funding Activity: Health Income Security and Social Services Expected Number of Awards: Not Available. Estimated Total Program Funding: Not Available. Award Ceiling: none Award Floor: none CFDA Number: 93.853 Extramural Research Programs in the Neurosciences and Neurological Disorders 93.242 Mental Health Research Grants 93.865 National Institute of Child Health and Human Development Extramural Research Cost Sharing or Matching Requirement: No Eligible Applicants Nonprofits having a 501(c)(3) status with the IRS, other than institutions of higher education Nonprofits that do not have a 501(c)(3) status with the IRS, other than institutions of higher education

91. Fragile X Syndrome Cascade Testing And Genetic Counseling Protocols Fund number CDCRFA-AA097 Title fragile x syndrome Cascade Testing and Genetic Counseling Protocols. Grant - Posted on Jul 18, 2005 http://www.fedgrants.gov/Applicants/HHS/CDC/PGO/CDC-RFA-AA097/listing.html

Department of Health and Human Services Grant Opportunities Office : Center for Disease Control and Prevention Location : Procurement and Grants Office Fund number : CDC-RFA-AA097 Title : Fragile X Syndrome Cascade Testing and Genetic Counseling Protocols Grant - Posted on Jul 18, 2005 SEARCH for Grants

92. Fragile X Syndrome: Diagnostic And Carrier Testing fragile x syndrome is the most common cause of inherited mental retardation, The diagnosis of fragile x syndrome was originally based on the expression http://www.acmg.net/resources/policies/pol-014.asp

Fragile X Syndrome: Diagnostic and Carrier Testing INTRODUCTION Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype. The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals. The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories. Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). Males and females carrying a premutation are unaffected. Male carriers are referred to as "normal transmitting" males, and they pass on the mutation, relatively unchanged in size, to all of their daughters. These daughters are unaffected, but are at risk of having affected offspring. Variable clinical severity is observed in both sexes. Most, but not all, males with a full mutation are mentally retarded and show typical physical ant behavioral features. Of females with a full mutation, approximately one-third are of normal intelligence, one-third are of borderline intelligence, and one-third are mentally retarded.

93. Fragile X Syndrome And Speech & Language fragile x syndrome is the most common inherited cause of mental retardation, but research is needed that describes the communication skills of these http://www.asha.org/about/publications/leader-online/archives/2003/q4/f031021b.h

@import url( /styles/importmenuA.css ); Skip to: content navigation Our site's pages are optimized for Web browsing software that supports current Web standards, as established by the World Wide Web Consortium (http://www.w3c.org/) . Content is accessible from older or less standards-compliant technologies, but its presentation will not be identical to visitors with standards-compliant software. Read more on our site's changes and accessiblity. Find a Professional Shop My Account Guest Login Search for: Advanced Search Home Site Location: Home About ASHA Publications ASHA Leader Online ... Oct - Dec FEATURE see also: Common Signs Additional Resources Cite this article as: by Joanne Roberts, Elizabeth A. Hennon, and Kathleen Anderson Henry is an energetic 6-year-old boy with fragile X syndrome (FXS). Physically he does not appear different from other children his age, though with a long face and fairly large ears. Henry enjoys giving hugs and singing, but when he meets new people he becomes very quiet and avoids eye contact. Transitions are stressful for Henry, so his teachers provide him with a set schedule for each day and give him ample time to prepare for new activities. Most of Henry’s utterances are two to three words in length, with more advanced comprehension than expression. Although in single words Henry’s speech is intelligible, he talks rapidly and is quite difficult to understand in conversational speech. He has difficulty responding to questions and quickly changes the topic to something of greater interest.

94. Genome.gov | Talking Glossary: "Fragile X Syndrome" Easyto-use, talking glossary of genetic terms, produced by the National Human Genome Research Institute. http://www.genome.gov/glossary.cfm?key=Fragile X syndrome

95. American Academy Of Pediatrics National Center Of Medical Home fragile x syndrome is a hereditary condition which causes a wide range of In addition to mental impairment, fragile x syndrome is associated with a http://www.medicalhomeinfo.org/screening/FragileX.html

96. Fragile X Syndrome : Virtual Hospital - Health Topics A-Z fragile x syndrome. All Topics Adult Patient Topics Adult Provider Topics Pediatric Patient Topics Pediatric Provider Topics http://www.vh.org/navigation/vh/topics/pediatric_provider_fragile_x_syndrome.htm

Health Topics A-Z Fragile X Syndrome All Topics Adult Patient Topics Adult Provider Topics Pediatric Patient Topics ... Pediatric Provider Topics For Pediatric Providers Clinical Genetics: A Self-Study Guide for Health Care Providers All Topics Adult Patient Topics Adult Provider Topics ... University of Iowa http://www.vh.org/navigation/vh/topics/pediatric_provider_fragile_x_syndrome.html

97. The Neurobiology Of Mental Retardation: Fragile X Syndrome fragile x syndrome is the most common inherited form of learning fragile x syndrome (FXS) not only bears scientific significance for the fields of http://serendip.brynmawr.edu/bb/neuro/neuro99/web2/Silvis.html

Biology 202 1999 Second Web Reports On Serendip The Neurobiology of Mental Retardation: Fragile X Syndrome Deborah Silvis In my previous paper, I wrote on the topic of the nature-nurture debate and the ways it related to the brain-equals-behavior dilemma. In this paper, I will continue this investigation into the link between genes and neurobiology, but I will focus in on a particular aspect of the relationship: neurological disease caused by genetic aberration. There are many well studied and well documented (thought not necessarily well understood) disorders associated with the X chromosome, and a large number of these have neurobiological roots and behavioral manifestations. One such disease is fragile X syndrome. Fragile X syndrome is the most common inherited form of learning disabilities and mental retardation known . The disease shows an x-linked inheritance pattern and is characterized by a host of symptoms ranging from impaired learning abilities to severe retardation and autistic behaviors . An understanding of the disease is vital on several levels. Fragile X syndrome (FXS) not only bears scientific significance for the fields of molecular genetics, transmission genetics, neurophysiology, and abnormal psychology. It also provides one with a vantage point from which to view the particular set of behaviors known as mental retardation as well as those afflicted by retardation who are too often stigmatized and marginalized in our society.

98. UC DAVIS FRAGILE X SYNDROME EXPERT AWARDED $2.2 MILLION GRANT TO STUDY LINK BETW UC Davis expert in fragile x syndrome will study families with fragile X fragile x syndrome is the most common inherited cause of mental retardation. http://www.ucdmc.ucdavis.edu/news/fragile_x_grant.html

FOR IMMEDIATE RELEASE: October 22, 2001 UC DAVIS FRAGILE X SYNDROME EXPERT AWARDED $2.2 MILLION GRANT TO STUDY LINK BETWEEN FRAGILE X AND AUTISM SACRAMENTO, Calif .) UC Davis expert in fragile X syndrome will study families with fragile X syndrome and autism to better understand the aging effects of the fragile X gene and the relationship between it and autism. The National Institute of Child Health and Human Development is funding the research as part of a $2.2 million, five-year grant. The grant funds further research into a new syndrome recently discovered by UC Davis School of Medicine Tsakopoulos-Vismara Professor of Pediatrics Randi Hagerman, an internationally recognized expert on fragile X syndrome, and her husband, Paul Hagerman, UC Davis School of Medicine professor, molecular biologist and physician. Their research shows that some older men who carry the gene for fragile X syndrome develop tremors, memory problems and other debilitating neurological problems later in life. "This grant allows us to explore the broader implications that the fragile X gene may have on different family members," said Randi Hagerman, who is also director of the UC Davis M.I.N.D. Institute. "With that knowledge, we can better understand, from a molecular view, how the problems of the grandfathers relate to the problems of the children who have fragile X and how both relate to autism."

99. The Health Report: 6 June  2005  - Fragile X Syndrome An update on the latest research into this condition. http://www.abc.net.au/rn/talks/8.30/helthrpt/stories/s1386316.htm

Health Matters All in the Mind The Buzz Earthbeat ... Quantum Mondays at 8.30am, repeated at 8.00pm with Norman Swan Fragile X Syndrome 6 June 2005 print An update on the latest research into this condition. Program Transcript Norman Swan: Australian researchers were the first in the world to describe what is probably the commonest genetic cause of intellectual delay in boys: it’s called Fragile X Syndrome. Since then, research has exploded in the area internationally showing that having the genetic defect in some form is linked to a much wider range of problems than previously suspected, in adults and people with normal intelligence. Randi Hagerman is Professor of Paediatrics at the University of California, Davis. She and her husband have described one of these problems. Randi Hagerman: Fragile X Syndrome is a genetic disorder, which can cause a wide range of disabilities, including mental retardation and autism, but it is also a fairly common cause of learning difficulties, or learning disabilities with a normal IQ. And also it can cause psychiatric problems in individuals with a normal IQ. Norman Swan: And it’s called Fragile X because it’s passed on the X chromosome.

100. FIRSTConsult - Sdfdsf FIRSTConsult, fragile x syndrome (Patient Education File). Published for medical students and primary healthcare providers by Elsevier. http://www.firstconsult.com/?action=view_article&id=1037377&type=103&bref=1

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