41. EPEC - Educating Parents Of Extra-special Children - Smith-Magenis Syndrome (SMS smithmagenis syndrome (SMS). smith-magenis syndrome (SMS) is associated with a small, missing section (called a deletion) of chromosome 17. http://www.epeconline.com/SMS.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Smith-Magenis Syndrome (SMS) Smith-Magenis Syndrome (SMS) is associated with a small, missing section (called a deletion) of chromosome 17. Until the mid-1990's, SMS was not well known. The tiny 17p11.2 deletion was often overlooked in the laboratory, and chromosome results were reported as 'normal'. The recent development of a specific genetic test, known as FISH for 17p11.2 deletion, has allowed more accurate detection of SMS. The diagnosis of SMS is usually confirmed through blood tests called chromosome analysis (karyotyping) and FISH (fluorescence in situ hybridization). People with SMS are born with a small deletion (missing section) of one member of their 17th pair of chromosomes. It is the lack of this specific section, known as 17p11.2, that causes a child to develop the features of SMS. While there is no medical prevention or cure, early diagnosis of SMS gives parents time to learn about and prepare for the challenges that lie ahead. Knowing the cause of their child’s developmental delays can facilitate a family’s access to important early intervention services and may help program staff identify areas of specific need or risk. Additionally, a diagnosis of SMS opens the doors to a network of information and support from professionals and other families dealing with the syndrome.

42. Smith-Magenis Syndrome smithmagenis syndrome. Summary smith-magenis syndrome is characterized by mental retardation and multiple congenital anomalies. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNP2IE05.htm

Smith-Magenis syndrome NeuroLearn NeuroHelp Neurodevelopmental Disorders Background ... Reference BACKGROUND AND CLINICAL INFORMATION Head Summary: Smith-Magenis syndrome is characterized by mental retardation and multiple congenital anomalies. A deletion at chromosome 17p11.2 is seen in most patients by cytogenetics or, in smaller deletion, by FISH. The deletion occurs in only one chromosome and almost all of the patients have de novo deletions. Smith-Magenis syndrome is characterized by typical craniofacial features, peripheral neuropathy, mental retardation, and hyperactivity disorder or ADHD. Other typical problems include onychotillomania, spasmodic upper body squeezing, and sleep behavior. Typically, these patients also have aggression, self–destruction, and tantramus. Renal, musculoskeletal, cardiac, and ophthalmological abnormalities may also be present. Incidence: 1/25,000 in the general population. This can be an underestimation. Genetics: Deletion at chromosome 17p11.2. The deletion vary from 1.5 MB to 9 MB but they typically are about 5 MB in size. Haplotype insufficiency: Deletion occurs on only one chromosome.

43. HON - News : Genetic Link To Smith-Magenis Syndrome Found Genetic Link to smithmagenis syndrome Found Developmental disorder traced to one gene. Here s where you can learn more about smith-magenis syndrome . http://www.hon.ch/News/HSN/512389.html

All Web sites HONcode sites HONselect News ... I J K L M N ... P Q R S T U ... W X Y Z Browse archive: J M A M ... S 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.

44. :: Ez2Find :: Smith-Magenis Syndrome PRISMS (Parents and Researchers Interested in smithmagenis syndrome) - Site Info - Translate - Open New Window Details URL http//www.smithmagenis.org. http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Smith-Magenis Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Smith-Magenis Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Smith-Magenis Syndrome Related Categories Health: Conditions and Diseases: Rare Disorders Web Sites Baylor College of Medicine [Site Info] [Translate] [Open New Window] A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. URL: http://www.bcm.tmc.edu/neurol/research/genes/genes10.html The CaF Directory [Site Info] [Translate] [Open New Window] A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. URL: http://www.cafamily.org.uk/Direct/s33.html

45. A SECOND CASE WITH SMITH-MAGENIS SYNDROME TREATED PRIMARILY WITH ANTISTRESS DRUG A SECOND CASE WITH smithmagenis syndrome. A second case of smith-magenis syndrome in a girl of a few more than eight years occurred to my observation. http://www.stress-cocchi.org/Genetics8.htm

A SECOND CASE WITH SMITH-MAGENIS SYNDROME TREATED PRIMARILY WITH ANTISTRESS DRUG THERAPY LASTING FIVE MONTHS Renato COCCHI, neurologist and medical psychologist Testo in iitaliano Summary. A 8;2-years girl with microdeletion of the chromosome 17 ( p11.2 ) had drug antistress therapy. The chromosomal anomaly with facial characteristics not particularly evident, mental retardation, behavioural troubles, hyperactivity, autistic traits and language problems drew to the diagnosis of the Smith-Magenis syndrome. Following a modulation trial by drugs of body reactions to stress, lasting five months, she showed language improvement, reduction to respiratory infections easiness, better behaviour at school and improved learning, and reduced the sameness. Symptoms linked to serotonin and noradrenaline got worse according perhaps to the seasonal change and precocious summer heat, for which after early improvements they came back to the state preceding the antistress drug therapy. The modulation of stress answers, even lasting only five months, and with low doses of drugs, appears a practicable way to reduce the phenotypical expressions of this chromosomal anomaly too. Key words: chromosomal anomaly, del17(11.p2), syndrome of Smith-Magenis, girl, stress, antistress drug therapy.

46. Smith-Magenis Syndrome The New Health Directory, Directory, Home Health Conditions and Diseases Genetic Disorders smithmagenis syndrome (4) See Also http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Sm

Directory Home Health Conditions and Diseases Genetic Disorders : Smith-Magenis Syndrome (4) See Also: Health: Conditions and Diseases: Rare Disorders The CaF Directory - A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. NORD - Smith Magenis Syndrome - Offers the synonyms, a general discussion and further resources. PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) - Details about the international support group organization and its mission as well as the condition. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations. Baylor College of Medicine - A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links articles on nutrition entex Dolisos insomnia cure ... creatine effects The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

47. The Smith-Magenis Syndrome Foundation - Patient UK The smithmagenis syndrome Foundation. 81 Cedar Ridge Dungannon Co Tyrone BT71 6UD Tel 0288 775 0050 Web www.smith-magenis.co.uk http://www.patient.co.uk/showdoc.asp?doc=27000238

48. Parents And Researchers Interested In Smith-Magenis Syndrome Return to Search Page Parents and Researchers Interested in smithmagenis syndrome. Conditions smith-magenis syndrome. Hours Answered 8am - 5pm, CST http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Pare

49. Page D'accueil Du Site Smith Magenis Translate this page maladie. La première description du SMS (smith-magenis syndrome) a été faite en 1982 par les Docteurs A. Smith et H. Magenis. http://www.multimania.com/asm17france/

C'est une maladie chromosomique associant une dysmorphie , des troubles du comportement et un retard mental. Qu'est ce qu'un syndrome ? LE SYNDROME DE SMITH MAGENIS Perte d'un fragment de chromosome Anomalie de la forme d'une partie du corps Description clinique Gros plan sur le syndrome Observation du comportement Smith Magenis ... Le club

50. Entrez PubMed Click here to read Genes in a refined smithmagenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. http://genomebiology.com/pubmed/11997338

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Genome Res. 2002 May;12(5):713-28. Related Articles, Links Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.

51. SMITH smithmagenis syndrome. A fluorescent microdeletions. Approximately 95% of patients with smith-magenis syndrome have deletions detected by FISH. The http://genetics.hillcrest.com/smith-magenis.htm

SMITH-MAGENIS SYNDROME A fluorescent in situ hybridization (FISH) test is offered to identify the microdeletion on chromosome 17 (p11.2) associated with Smith-Magenis syndrome. REASONS FOR REFERRAL: Individuals with mid-face hypoplasia, brachycephaly, brachydactyly, otolaryngologic abnormalities, delayed speech and motor development, moderate to severe mental retardation, self-injurious behavior and sleep disturbances. TESTING METHODOLOGY: Fluorescence in situ hybridization (FISH) is the application of fluorescently-labeled DNA probes to metaphase chromosomes or interphase nuclei for the detection of chromosome abnormalities such as aneuploidy, structural rearrangements and microdeletions. Approximately 95% of patients with Smith-Magenis syndrome have deletions detected by FISH. The assay uses a probe located at 17p11.2 and a chromosome 17 control probe. Analysis is based on fluorescent signals present in 10 to 20 labeled metaphases. SPECIMEN REQUIREMENTS: Blood: Sodium heparin (green top) tubes Newborn: minimum 1-2 mL Child/Adult: minimum 3-5 mL A completed Cytogenetics Requisition Form must accompany specimen.

52. 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 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 Annual get together (keeping in mind funding, location and respite care for kids)

53. EnableNet - Enablenet.browse.browse increase awareness and understanding of smithmagenis syndrome. Website includes a parent contact service, publications and news. www.smithmagenis.org - United http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2380

54. Dr. Sarah Elsea And Her Research On Smith-Magenis Syndrome MSU researchers identify gene responsible for smithmagenis syndrome. Sarah Elsea PhD. An assistant professor with appointments in the departments of. http://www.msu.edu/unit/chmrsch/sarah_Elsea.htm

MSU researchers identify gene responsible for Smith-Magenis Syndrome Sarah Elsea PhD A n assistant professor with appointments in the departments of Pediatrics and Human Development and Zoology. Pediatrics and Human Development Zoology Researchers at MSU have identified the gene responsible for a developmental disorder known as Smith-Magenis syndrome (SMS), a discovery that could lead to new therapies for the disorder and the myriad problems that accompany it. To read article in MSU today on her research Click here To read her research paper published in Nature Genetics Click here Top This website is under Reconstruction. For your convenience, we have kept all the old links active. Please send us your Suggestions and Comments for the new site on chmrsch@msu.edu Dr. Nigel Paneth A ssociate Dean for Research Get a Map A209 East Fee Hall, East Lansing, MI 48825 Phone 517 432 4789 Fax 517 432 8021 Web designing: Nagesh Narayan Borse borsenag@msu.edu

55. VolunteerMatch - PRISMS (Parents And Researchers Interested In Smith-Magenis Syn Mission Statement PRISMS is dedicated to providing information and support to families of persons with smithmagenis syndrome (SMS) and fostering partnerships http://www.volunteermatch.org/orgs/org26080.html

June 2, 2004 PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) View Opportunities Mission Statement 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. Description Smith-Magenis Syndrome (SMS) is associated with a small, missing section (called a deletion) of chromosome 17. SMS is characterized by a specific pattern of physical, developmental and behavioral problems, including sleep disturbance, self-injurious behavior and mental retardation. Although the exact incidence is not known, it is estimated that SMS occurs in 1 out of 25,000 births. SMS is extremely under-diagnosed, but as awareness of it increases, the number of people identified grows every year. Opportunities There are currently no opportunities for this organization. Address P. O. Box 741914 Dallas, TX 75374 US Contact Randy Beall (President) Phone Fax Email Website http://www.prisms.org

56. CheatHouse.com - Smith-Magenis Syndrome - It Is Full Of Info Such As Characteris in Situ Hybridization Index MAGENIS SYNDROME Magenis Syndrome Smith Magenis Syndrome Omim SMS staff identify areas of specific need or risk smithmagenis sms t http://www.cheathouse.com/eview/10837-smithmagenis-syndrome-it-is-full-of-info.h

Smith-Magenis Syndrome Smith-Magenis Syndrome (SMS) is a disease where there is a small deletion (missing section) of one member of their 17th pair of Chromosomes. To educate you on SMS I will tell you the Characteristics, Genetics, The Diagnosis, and about Early Detection, Diagnosis, and Interventi Smith-Magenis Syndrome - It is full of info such as Characteristics, Geneitics, The Diagnosis, Early Detection, an Diagnossis and Intervention. Note! The sentences in this essay are shuffled, making this essay unusable If you want to read the essay in it's original and proper state, click here. We use this page for our internal search engine, and it's not meant to be viewable. Diseases Home Essays [LOGIN] ... 1995-2004, Loadstone

57. Medical Experts - Smith-Magenis Syndrome (SMS) ASSOCIATIONS. Bar Associations Legal Associations Law Firms Attorneys. Medical Experts smithmagenis syndrome (SMS). AMFS, Inc. (American Medical Forensics). http://www.hg.org/experts/Medical-Experts-Smith-Magenis-Syndrome-SMS-.html

#1 Legal Research Center Home Law Firms Experts/Consultants Law Practice ... Contact Us LEGAL DIRECTORIES Law Firms Experts/Consultants Investigators Process Servers ... Legal Services LAW PRACTICE 70 Areas of Practice Practice of Law Law Events Calendar Add your Event EMPLOYMENT CENTER Recruiters HG Classified Other Resources STUDENTS CENTER Pre-Law Law Schools Graduate Schools Law Bar ... Other Resources BUSINESS CENTER Starting a Business Ecommerce Legal Structures Financing ... Employment CONSUMERS CENTER Consumer Resources National Regimes Publications Associations UNITED STATES LAW Federal Government States Law INTERNATIONAL LAW 230 Countries United Nations European Union Other Organizations ASSOCIATIONS Bar Associations Legal Associations Law Firms Attorneys Medical Experts: Smith-Magenis Syndrome (SMS) AMFS, Inc. (American Medical Forensics) Berkeley, California Contact: Dr. Barry Gustin Tel: 800-275-8903, Fax: 510-486-1255 AMFS is recognized as a leader in the field of medical-legal case review and expert witness testimony. Since 1990 in more than 35,000 medical-legal cases for plaintiff and defendant, AMFS experts have consistently delivered. AMFS is the only medical forensic consulting group staffed exclusively by board-certified in-house physicians. Extended Information Mailing Lists Add your Firm Contact Us H ieros G

58. Karger Publishers Prenatal Diagnosis of smithmagenis syndrome (del 17p11.2) Dafydd G. Thomas a , Suzanne M. Jacques a , Leigh Anne Flore b , Baruch Feldman b , Mark I. Evans ac http://content.karger.com/ProdukteDB/produkte.asp?Doi=21032

59. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Smith-Magenis Syndr Category smithmagenis syndrome. HOME ABOUT Search Login . Conditions and Diseases/Genetic Disorders/smith-magenis syndrome. Links http://www.pillsupplier.com/dir/884/

Category: Smith-Magenis Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Smith-Magenis Syndrome Links: Baylor College of Medicine [rate it] [review it] A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. NORD - Smith Magenis Syndrome [rate it] [review it] Offers the synonyms, a general discussion and further resources. PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) [rate it] [review it] Details about the international support group organization and its mission as well as the condition. Includes an introduction, diagnosis, parent's corner, meet other people with SMS and educational considerations. The CaF Directory [rate it] [review it] A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:40:41 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

60. Qango : Health: Diseases And Conditions: S: Smith-Magenis Syndrome (SMS) category Options Help. Home Health Diseases and Conditions S smithmagenis syndrome (SMS), Suggest a Site. Health, etc. If you http://www.qango.com/dir/Health/Diseases_and_Conditions/S/Smith-Magenis_Syndrome

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Smith-Magenis Syndrome (SMS) all of Qango only this category Options Help Home Health ... S > Smith-Magenis Syndrome (SMS) Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... S > Smith-Magenis Syndrome (SMS) Suggest a Site Home Suggest a Site Search ... Login

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