21. Structure And Evolution Of The Smith-Magenis Syndrome Repeat Gene Structure and Evolution of the smithmagenis syndrome Repeat Gene Clusters, SMS-REPs Sung-Sup Park 1 5 6. Pawe. Stankiewicz 1 5. Weimin Bi 1 http://tmsyn.an.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. SMITH-MAGENIS SYNDROME FOUNDATION UK The smithmagenis syndrome Foundation PO Box 1490 Northern Ireland BT71 4YE. email info@smith-magenis.co.uk. Last updated Sonntag, 15 Mai 2005 Web design http://www.smith-magenis.co.uk/

Smith-Magenis Syndrome Foundation Welcome to the Smith-Magenis Syndrome Foundation Home Contacts Diagnosis Conference News ... Fundraising Welcome! You have by accident or design found the website for the Smith-Magenis Syndrome Foundation in the UK. We are a family based self-help group formed in 1992 to provide help and information to families with a member with Smith-Magenis Syndrome, and interested professionals. The Foundation is a registered charity which is organised by a committee of parents who all have a child with SMS of differing ages – we know how you feel. Between us we have an abundance of knowledge - from the earth-shattering feelings of initial diagnosis, to the practical tips that make life with an SMS individual run more smoothly. If you would like to join the group, we can put you in touch with other families in a similar situation based on age, or area of the country. Come along to one of our regional Family Days for a happy day out. The annual conference is an opportunity to meet parents, professionals interested in SMS, and individuals with the condition. We have a professional advisory board comprising doctors and educationalists that are specifically interested in SMS, and have offered their services to the group.

23. Genetics Research: Smith-Magenis Syndrome smithmagenis syndrome. Principal Investigator Pragna I. Patel, Ph.D. Multiple congenital anomalies/mental retardation syndrome http://www.bcm.edu/neurol/research/genes/genes10.html

Smith-Magenis Syndrome Principal Investigator: Pragna I. Patel, Ph.D. Multiple congenital anomalies/mental retardation syndrome Caused by a deletion involving chromosome 17 band p11.2 Incidence: ~ 1 in 25,000 Symptoms include: brachycephaly, flat midface, protending jaw, hoarse deep voice, sleep disorders, compulsive tendency to manipulate nails and to insert foreign objects into bodily orifices Our analysis of 62 patients has delineated a common interval in 17p11.2 deleted in all patients within which four genes encoding snU3, FLI, MFAP4 and cSHMT have been mapped Current Research Efforts include: narrow down the "critical region" construct a contig of genomic clones for this region identify candidate genes identify additional patients with smaller deletions Click picture for legend and larger version Seven year-old girl with Smith-Magenis syndrome Selected References: Yang, S.P., Bidichandani, S.I., Figuera, L.E., Juyal, R.C., Saxon, P.J., Baldini, A., and Patel, P.I. Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 170 paracentric inversion: implications for carriers of paracentric inversions. Am.J. Hum. Genet., (In press), 1997. Juyal, R.C., Kuwano, A., Kondo, I., Zara, F., Baldini, A., and Patel, P.I. Mosaicism for del (17)(p11.2p11.2) underlyig the Smith-Magenis syndrome. Am. J. Med. Genet., 66:193-196, 1996.

24. Smith-Magenis Syndrome / Family Village Library PRISMS (Parents and Researchers Interested in smithmagenis syndrome) smith-magenis syndrome Research Baylor College of Medicine. Smith Magenis Syndrome http://www.familyvillage.wisc.edu/lib_sms.htm

Smith-Magenis Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Smith-Magenis Syndrome" Who to Contact P.O. Box 741914 Dallas, TX 75374-1914 info@prisms.org http://www.prisms.org PRISMS is dedicated to providing information and support to families of persons with Smith-Magenis Syndrome (SMS) and fostering partnerships with professionals to increase awareness and understanding of SMS. Where to Go to Chat with Others Smith-Magenis Syndrome Mailing List The SMS Mailing list is designed to promote the exhange of information and communication about Smith-Magenis syndrome among parents, professionals and researchers working with this condition. Members of the SMS Mailing list will include parents and/or relatives of persons with SMS, as well as special educators, health professionals and researchers working specifically with this rare condition. Learn More About It What is Smith-Magenis Syndrome? From the Prisms web site. What is SMS? Smith-Magenis Syndrome From the Online Mendelian Inheritance of Man (OMIM) Smith-Magenis Syndrome: Genetic Research From the Department of Neurology at Baylor College of Medicine Web Sites PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) Smith-Magenis Syndrome Research Baylor College of Medicine Smith Magenis Syndrome Foundation - United Kingdom Le Syndrome de Smith Magenis - France Back to [ S - T Family Village Home Library Coffee Shop ... Information Last Updated 6/13/2005 by rowley@waisman.wisc.edu

25. Clinical Trial: Natural History Study Of Smith-Magenis Syndrome This study will examine how a rare disease called smithmagenis syndrome (SMS) Persons with smith-magenis syndrome confirmed by deletion of 17p.11.2. http://www.clinicaltrials.gov/ct/gui/show/NCT00013559

Home Search Browse Resources ... About Natural History Study of Smith-Magenis Syndrome This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) March 7, 2005 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece). The syndrome is associated with distinct physical, developmental and behavioral characteristics, but it is not fully understood. To learn more about this disease, a multidisciplinary research team will study: - The range and type of medical, behavioral, and learning problems of people with SMS - The deletion of chromosome 17p11.2 to find the gene or genes that cause SMS - Whether certain specific genetic changes cause certain specific medical problems - What signs and symptoms must be present to make a diagnosis of SMS - The impact that a child with SMS has on his or her family members.

26. NORD - National Organization For Rare Disorders, Inc. smithmagenis syndrome is characterized by particular facial features, smith-magenis syndrome occurs when there is a missing piece of chromosome on the http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Smith Magenis

27. Risperidone Treatment In Smith-Magenis Syndrome smithmagenis syndrome (SMS) is a clinically recognizable multiple analysis of the Smith.Magenis syndrome A possible contiguous.gene syndrome http://www.priory.com/psych/sms.htm

Efficacy of Risperidone Treatment in Smith-Magenis Syndrome (del 17 pll.2) Helmut Niederhofer Regional Hospital of Bolzano Dep. of Pediatrics Via L.-Boehler, 5 39100 Bolzano ITALY Tel.: +39 0471 466666 Fax: +39 0471 46609 E-Mail: helmut.niederhofer@uibk.ac.at ABSTRACT: Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 pll.2. Although the physical and molecular genetic features of SMS are increasingly well understood, work is more limited on SMS's behavioral phenotype, which includes self-injury, tantrums, aggression, attention deficit, and sleep disturbance. This case-report describes the lowering of the aggression level of a 13 year old individual with SMS. KEY WORDS: SMS, chromosome del 17 pll.2; behavioural phenotype; mental retardation; Risperidone INTRODUCTION: The vast majority of persons with SMS have been identified in the last 5 years as a result of improved cytogenetic techniques for high-resolution banding. While the number of reported cases remains small, the estimated prevalence of SMS is 1125,000 births (Green et al., 1991). Virtually all cases of SMS have been confirmed cytogenetically, with detectable deletions of 17p11.2 ranging from 2 to 9 megabases. Moderate quality and 450-550 band resolution is generally adequate for detection of the deletions of 17p11 (Behjati et al.. 1997); however, clinically suspected cases in which the deletion is not cytogenetically detectable warrant fluorescence

28. Smith-Magenis Syndrome International network. Founded 1993. Parent to parent program offering support, advocacy and education http://my.webmd.com/hw/health_guide_atoz/shc29sms.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... Support Organizations Smith-Magenis Syndrome International network. Founded 1993. Parent to parent program offering support, advocacy and education for families affected by Smith Magenis syndrome. Information, referrals, literature, phone support and newsletter. Dues $30. WRITE: PRISMS P.O. Box 741914 Dallas, TX 75374-1914 CALL: 972-231-0035 E-MAIL: info@prisms.org WEBSITE: http://www.prisms.org VERIFIED: 10/20/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

29. CMAJ -- Please Take Our Questionnaire We did not consider smithmagenis syndrome for the patient described in our First, most people with smith-magenis syndrome have mild to moderate mental http://www.cmaj.ca/cgi/content/full/169/6/545

Fall 2005 online survey of eCMAJ users For 50 weeks of the year, eCMAJ is available full-text online, free of charge and without registration. For 2 weeks only, from Sept. 7th to Sept. 18th, the price of admission is completion of a short survey. This survey will help us to understand more about our visitors and will take a maximum of 5 minutes to complete. You will have to fill it out only once from the computer you are now using, as long as you have cookies enabled in your Web browser. If you don't have time to complete the survey right now, click here for access to eCMAJ. We'll ask you again at your next visit. Your cookies need to be enabled for this to work properly. If you have already answered this survey, click here to access eCMAJ. Your cookies need to be enabled for this to work properly. If you have difficulties with this survey, please e-mail for assistance. cliquez ici cliquer ici pour obtenir de l'aide.

30. CMAJ -- Please Take Our Questionnaire The authors might want to investigate for smithmagenis syndrome if this has not smith-magenis syndrome is associated with mental retardation, http://www.cmaj.ca/cgi/content/full/169/6/543-a

Fall 2005 online survey of eCMAJ users For 50 weeks of the year, eCMAJ is available full-text online, free of charge and without registration. For 2 weeks only, from Sept. 7th to Sept. 18th, the price of admission is completion of a short survey. This survey will help us to understand more about our visitors and will take a maximum of 5 minutes to complete. You will have to fill it out only once from the computer you are now using, as long as you have cookies enabled in your Web browser. If you don't have time to complete the survey right now, click here for access to eCMAJ. We'll ask you again at your next visit. Your cookies need to be enabled for this to work properly. If you have already answered this survey, click here to access eCMAJ. Your cookies need to be enabled for this to work properly. If you have difficulties with this survey, please e-mail for assistance. cliquez ici cliquer ici pour obtenir de l'aide.

31. Smith-Magenis Syndrome - [Support Group] This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a http://www.bchealthguide.org/kbase/shc/shc29sms.htm

var hwPrint=1;var hwDocHWID="shc29sms";var hwDocTitle="Smith-Magenis Syndrome";var hwRank="1";var hwSectionHWID="shc29sms-Header";var hwSource="en-caQ2_05";var hwDocType="Shc"; Self Help Clearinghouse Smith-Magenis Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. International network. Founded 1993. Parent to parent program offering support, advocacy and education for families affected by Smith Magenis syndrome. Information, referrals, literature, phone support and newsletter. Dues $30. WRITE: PRISMS P.O. Box 741914 Dallas, TX 75374-1914 CALL: 972-231-0035 E-MAIL: info@prisms.org WEBSITE: http://www.prisms.org VERIFIED: 10/20/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

32. Smith Magenis Syndrome smithmagenis syndrome is a rare chromosomal disorder characterized by abnormalities of the head and facial (craniofacial) area, delays in the acquisition http://www.bchealthguide.org/kbase/nord/nord976.htm

var hwPrint=1;var hwDocHWID="nord976";var hwDocTitle="Smith Magenis Syndrome";var hwRank="1";var hwSectionHWID="nord976-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Smith Magenis Syndrome Important It is possible that the main title of the report Smith Magenis Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Chromosome 17, Interstitial Deletion 17p SMCR Smith-Magenis Chromosome Region SMS Disorder Subdivisions None General Discussion Resources Chromosome Deletion Outreach, Inc. P.O. Box 724 Boca Raton, FL 33429-0724 USA Tel: 8882366880 Internet: http://www.chromodisorder.org PO Box 741914 Dallas, TX 75374-1914 USA Tel: 9722310035 Fax: 4138266539 Email: info@prisms.org Internet: http://www.prisms.org American Society for Deaf Children PO Box 1510 Olney, MD 20830-1510 Tel: (916)641-6084 Fax: (916)641-6085 Tel: (800)942-2732 TDD: (916)641-6084 Email: ASDC1@aol.com

33. Smith-Magenis Syndrome - FISH Analysis The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)based assay for identifying the deletions on 17p11.2 associated with http://www.bcmgeneticlabs.org/tests/cyto/smith-magenis.html

SMITH-MAGENIS SYNDROME FISH ANALYSIS Open Page in New Window Print This Page Return to Search The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the deletions on 17p11.2 associated with Smith-Magenis syndrome. Clinical Features: Smith-Magenis syndrome is associated with a distinct phenotype of brachycephaly with midface hypoplasia, short, broad hands, mental retardation, sleep disturbances and self-abusive behavior. Reasons for Referral: Patients with clinical features suggestive of Smith-Magenis Syndrome may be tested for deletions of 17p11.2 by FISH simultaneously with high-resolution chromosomal analysis (if not previously performed). Prenatal diagnosis may be performed if an affected family member has been studied in our laboratory and shown to have a deletion detectable by FISH. Please call regarding all prenatal samples. Testing Methodology: FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. FISH analysis for Smith-Magenis syndrome is performed on metaphase chromosomes. The absence of a hybridization signal indicates a deletion. The Kleberg Cytogenetics Laboratory uses a

34. Smith Magenis Syndrome Disease Smith Magenis Syndrome. Please visit our Sponsors About smithmagenis syndrome - report from the 1st national Conference on the Smith-Magenis http://www.cannylink.com/diseasesmithmagenis.htm

Web www.CannyLink.com Disease : Smith Magenis Syndrome About Smith-Magenis Syndrome - report from the 1st national Conference on the Smith-Magenis Syndrome. Jade's Smith Magenis Syndrome NORD - Smith-Magenis Syndrome Contact Group PRISMS Smith Magenis Syndrome (SMS) ... Smith-Magenis syndrome Back to The Cannylink home page You can e-mail us at Webmaster@cannylink

35. Elwyn, Inc. Mosaicism for Deletion 17p11.2 in a Boy With the smithmagenis syndrome Definition of the critical interval for smith-magenis syndrome http://www.elwyn.org/pro_articles_smithmagenis.html

SMITH-MAGENIS SYNDROME Research by Elwyn Staff Mosaicism for Deletion 17p11.2 in a Boy With the Smith-Magenis Syndrome Haploinsufficiency of Cytosolic Serine Hydroxymethyltransferase in the Smith-Magenis Syndrome Definition of the critical interval for Smith-Magenis syndrome Brief Report: Cognitive and Behavioral Profiles in Persons with Smith-Magenis Syndrome MOSAICISM FOR DELETION 17p11.2 IN A BOY WITH THE SMITH-MAGENIS SYNDROME Brenda Finucane , Michael B. Kurtz, V. Ramesh Babu, and Charles I. Scott, Jr. We describe a 14-year-old boy with both physical and behavioral manifestations of the Smith-Magenis syndrome. Low level mosaicism (11%) for deletion 17p11.2 was found in peripheral blood lymphocytes. The deletion was also observed in 100% of metaphases examined from skin fibroblast cultures. We confirm that the Smith-Magenis syndrome is associated with a highly recognizable phenotype. Because evidence of the abnormal cell line may be minimal or absent in peripheral blood, fibroblast studies are indicated for patients in whom mosaicism for deletion 17p11.2 is suspected clinically. American Journal of Medical Genetics 45:447-449 (1993) Key words: fibroblast studies, contiguous gene syndrome

36. Smith-Magenis Syndrome smithmagenis syndrome. Printable version. Contiguous gene syndrome caused by an interstitial deletion of 17p11.2 invloving genes TOP3 (topoisomerase III) http://www.humpath.com/article.php3?id_article=1771

37. Smith Magenis Syndrome Many individuals with smithmagenis syndrome also experience sleep smith-magenis syndrome occurs due to deletion of a portion of the short arm (p) of http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord976

38. Smith-Magenis Syndrome Aussies smithmagenis syndrome Family Day. On the 20th April 2002, 12 families met at the Melbourne Museum - their common bond was that one of their family members http://www.gsnv.org.au/SMS/

Smith-Magenis Syndrome Family Day On the 20th April 2002, 12 families met at the Melbourne Museum - their common bond was that one of their family members had Smith Magenis Syndrome (SMS). Families had travelled from all over Victoria and several from NSW. The day was coordinated by the GSNV, in collaboration with Dr George McGillervray, Genetics Fellow, Marg Sahhar, Senior Social Worker both from Genetic Health Services Victoria and Craig and Katrina Simpson, parents of a child with SMS. This day was momentous for a number of reasons: It was a day set up just for the families. It had no clinical focus at all, however there was a geneticist and a social worker present on the day. The day was highly supported by the Melbourne Museum who provided the meeting room, complimentary passes and staff to conduct a guided tour of the museum with kids, siblings and others leaving parents to discuss the real issues whilst knowing their children were being entertained. The Museum was chosen because it provided a neutral space and one that was full of activities. Points and issues raised during the meeting: Use Professionals BI S team (behavioural) Centrelink Financial Benefits Siblings - Centre for Adolescent Health group 9345 5522 Yahoo Actions to occur: List of contact families to be produced and distributed GSNV to contact genetic counsellors nationally USA List serv Webpage connected to GSNV site

39. Library Page Numbers 16 To 22 Smith Magenis Syndrome and cyanotic congenital heart disease a case report, MultiDisciplinary Clinical Study of smith-magenis syndrome (Deletion http://www.chromodisorder.org/sytrix/card_list.php3?dbid=81&id=253

40. HON - News : Genetic Link To Smith-Magenis Syndrome Found Here s where you can learn more about smithmagenis syndrome . SOURCE Michigan State University, news release, March 24, 2003 http://www.hon.ch/News/HSN/512389.html

Speech On / Off HONcode sites All Web sites HONselect News ... X Y Z Browse archive: A J J M ... J Other news for: Child Development Genetics Resources from HONselect Genetic Link to Smith-Magenis Syndrome Found Developmental disorder traced to one gene TUESDAY, March 25 (HealthScoutNews) The gene that's responsible for the developmental disorder called Smith-Magenis syndrome (SMS) has been identified by Michigan State University researchers. Their finding appears in the March 24 issue of Nature Genetics Scientists may now be able to develop new therapies to treat the disorder and the problems that accompany it. SMS causes varying degrees of mental retardation, head and face deformities, sleep disturbances and self-injurious behavior. It was always assumed that more than one gene contributed to SMS. However, the researchers found that a mutation on a gene called retionic acid induced 1 (RAI1) prevents the production of normal protein from that gene. People with SMS have one normal functioning RAI1 protein from one chromosome but don't get normal protein function from the other chromosome. While prevention of SMS may be impossible, early diagnosis may result in improved outcomes for people with the disorder.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 96    Back | 1  | 2  | 3  | 4  | 5  | Next 20