21. EPEC - Educating Parents Of Extra-special Children - Smith-Magenis Syndrome (SMS smithmagenis syndrome (SMS). smith-magenis syndrome (SMS) is associatedwith 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.

22. Experts, Consultants, Authorities - Smith-Magenis Syndrome (SMS) Specialty smithmagenis syndrome (SMS). AMFS, Inc. (American MedicalForensics). 2640 Telegraph Avenue Berkeley, California 94704 http://www.hgexperts.com/listing/Medical-Experts-Smith-Magenis-Syndrome-SMS-.asp

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23. Health Library - Smith-Magenis Syndrome smithmagenis syndrome. Founded 1992.Parent-to-parent program offering support,advocacy and education for families affected by smith-magenis syndrome. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29s

24. Smith-Magenis Syndrome smithmagenis syndrome. About smith-magenis syndrome - report from the 1stnational Conference on the smith-magenis syndrome. smith-magenis syndrome. http://www.ability.org.uk/Smith_Magenis_Syndrome.html

"see the ability, not the disability" You to can help support the Ability Project by: Our Aims ... Z Smith-Magenis Syndrome About Smith-Magenis Syndrome - report from the 1st national Conference on the Smith-Magenis Syndrome. Smith-Magenis syndrome NORD - Smith-Magenis Syndrome Contact Group Smith Magenis Syndrome (SMS) Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

25. GeneReviews: Smith-Magenis Syndrome Your browser does not support HTML frames so you must view smithmagenis syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/sms&id=8888888&key=r5uHMS56EHeaU

Your browser does not support HTML frames so you must view Smith-Magenis Syndrome in a slightly less readable form. Please follow this link to do so.

26. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Natural History Study of smithmagenis syndrome. This study is currently recruitingpatients. Condition. Chromosome Abnormalities Smith Magenis Syndrome. http://www.clinicaltrials.gov/ct/gui/show/NCT00013559?order=15

27. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Purpose OBJECTIVES I. Investigate phenotype and genotype correlations in patientswith smithmagenis syndrome (SMS) associated with del(17p11.2). II. http://www.clinicaltrials.gov/ct/gui/show/NCT00004351?order=1

28. GGRC - Medical Care Information smithmagenis syndrome Note These considerations are in addition to the normalmedical care provided to an individual without smith-magenis syndrome. http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=5196

29. Smith-Magenis Syndrome - FISH Analysis smithmagenis syndrome FISH ANALYSIS. http://www.bcmgeneticlabs.org/tests/cyto/smith-magenis.html

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 Smith-Magenis syndrome. Reasons for Referral: 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. 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. The Kleberg Cytogenetics Laboratory is using the FLI gene for detecting deletions in the Smith-Magenis syndrome critical region on 17p11.2. FISH can also be used to detect deletions in prenatal samples to provide prenatal diagnosis of Smith-Magenis syndrome. Specimen Requirements: Whole blood in sodium heparin (green-top) tubes: 1.0 -2.0 CC

30. NIH Press Release - National Conference On Smith-Magenis To Be Held At NIH - 03/ Bethesda, MD Parents and Researchers Interested in smith-magenis syndrome (PRISMS),a support group dedicated to the disease, will hold its first national http://www.nih.gov/news/pr/mar97/nhgri-13.htm

NATIONAL INSTITUTES OF HEALTH National Human Genome Research Institute FOR IMMEDIATE RELEASE Thursday, Mar. 13, 1997 NHGRI sms@nhgri.nih.gov National Conference on Smith-Magenis to be held at NIH Bethesda, MD - Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS), a support group dedicated to the disease, will hold its first national conference March 14 and 15 at the National Institutes of Health in Bethesda, Maryland. The conference will feature leading national and international experts on SMS, including the co-discoverers of the syndrome. Over 45 families with an affected child will attend from all over the U.S. The conference includes segments on the genetics of SMS, educational strategies, family stress, empowering parents, and current research. For families with newly diagnosed child with SMS, the search for information on SMS is often a formidable task, since public and professional awareness about SMS and its implications for families is not widespread. Newly identified SMS families require up-to-date as well as emotional and peer support, enabling them to better care for their child with SMS. PRISMS, the support group for Parents and Researchers Interested in Smith-Magenis Syndrome, serves as a clearinghouse for information and resources about SMS. Smith-Magenis Syndrome (SMS) is a distinct and clinically recognizable contiguous gene syndrome characterized by a specific pattern of physical, behavioral and developmental features. It is caused by a deletion of chromosome 17. The first group of children was described in the early 1980's by Ann C.M. Smith, M.A., a genetic counselor and Ellen Magenis, M.D., a cytogeneticist. Although the exact incidence is not known, SMS is rare and is estimated to occur in 1 of every 25,000 births. SMS is under diagnosed but with improved molecular cytogenetic techniques and increased professional awareness of SMS, the number of persons identified grows every year.

31. Smith-Magenis Syndrome : Meddie Health Search ITEMS LINKS Baylor College of Medicine A definition of SmithMagenissyndrome, the symptoms, incidence and currant research efforts. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Sm

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Smith-Magenis Syndrome ITEMS: LINKS: Baylor College of Medicine A definition of Smith-Magenis syndrome, the symptoms, incidence and currant research efforts. (Rating: 0.00 Votes: 0) Rate It The CaF Directory A definition of Smith-Magenis syndrome, its inheritance pattern, pre-natal diagnosis and a support group in the United Kingdom. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

32. Nature Publishing Group Article. Genomic organisation of the ~1.5 Mb smithmagenis syndrome criticalinterval Transcription map, genomic contig, and candidate gene analysis. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n12/abs/5200734

33. Molecular Mechanism For Duplication 17p11.2[#151] The Homologous Recombination R 2). smithmagenis syndrome (SMS) is a multiple congenital anomalies, mental retardationsyndrome associated with a chromosome 17 microdeletion, del(17)(p11.2p11 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v24/n1/abs/ng0100_84

34. 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

35. Elsea Lab: Publications Baldini, Patrick Stover, and Pragna I. Patel (1995) Haploinsufficiency of CytosolicSerine Hydroxymethyltransferase in the smithmagenis syndrome. Am. http://www.msu.edu/~phd/ElseaResearch/dnaweb copy/webinfo/publications.html

Selected Peer-Reviewed Articles Sarah H. Elsea , Ramesh C. Juyal, Sarn Jiralerspong, Brenda M. Finucane, Massimo Pandolfo, Frank Greenberg, Antonio Baldini, Patrick Stover, and Pragna I. Patel (1995) "Haploinsufficiency of Cytosolic Serine Hydroxymethyltransferase in the Smith-Magenis Syndrome." Am. J. Hum. Genet Ramesh C. Juyal, Luis E. Figuera, Xueya Hauge, Sarah H. Elsea , James R. Lupski, Frank Greenberg, Antonio Baldini, and Pragna I. Patel (1996) "Molecular Analyses of 17p11.2 Deletions in 62 Smith-Magenis Syndrome Patients." Am. J. Hum. Genet Eberhard Fritz, Sarah H. Elsea, Pragna I. Patel, and M. Stephen Meyn (1997) "Overexpression of a Human Topoisomerase III Protein Corrects Multiple Aspects of the Ataxia-Telangiectasia Phenotype." Proc. Natl. Acad. Sci., Sarah H. Elsea , Smita M. Purandare, Ruth Ann Adell, Ramesh C. Juyal, Jessica G. Davis, Brenda Finucane, R. Ellen Magenis, and Pragna Patel (1997) "Definition of the Critical Interval for Smith-Magenis Syndrome," Cytogenet. Cell Genet.

36. Elsea Lab Research Interests research focuses on the identification and characterization of genes responsiblefor the chromosome microdeletion disorder known as smithmagenis syndrome (SMS http://www.msu.edu/~phd/ElseaResearch/dnaweb copy/webinfo/researchinterests.html

37. Microdeletion Probes - Page 2 smithmagenis syndrome (SMS), caused by an interstitial deletion of 5 Mb of band17p11.2, is a multiple congenital anomaly syndrome characterised by mental http://www.cytocell.com/microde2.html

Microdeletion Probes DiGeorge/VCFS TUPLE 1 DiGeorge/VCFS N25 (D22S75) Prader-Willi/Angelman Angelman ... Wolf-Hirschhorn Critical Region (WHSCR) Probe UBE3A/D15S10: Red Fluorophore 15q Telomere Specific (154P1) Control Probe: Green Fluorophore Aquarius probe Cat. No. LPU 006 In 70% of patients with Prader-Willi or Angelman Syndrome (AS) a large interstitial deletion of 3-4 Mb at 15q11-13 is observed. The remainder exhibit uniparental disomy or a mutations in the Imprinting Centre. However, 20% of AS patients do not, suggesting the involvement of a single AS gene. The candidate UBE3A gene lies within the minimum AS critical region and is mutated in 20-30% of AS patients with normal methylation patterns and biparental contribution of 15q11-13. The Angelman Region probe mixture contains the majority of the UBE3A gene, including D15S10 and a 15q subtelomere control probe. The probes are directly labelled with either red (Texas Red spectrum) or green fluorophores (FITC spectrum) respectively. For detailed probe information with chromosome map and ideogram view pdf Back to top Smith-Magenis: Green Fluorophore Miller-Dieker/Isolated Lissencephaly Sequence: Red Fluorophore Aquarius probe Cat. No. LPU 007

38. Sarah Elsea My laboratory studies smithmagenis syndrome (SMS), which is a commongenetic cause of mental retardation and behavioral dysfunction. http://www.zoology.msu.edu/research/faculty/elsea.html

Research Sarah H. Elsea Assistant Professor Ph.D., Vanderbilt University S320 Plant Biology, MSU Campus Email: elsea@msu.edu Genetic and biochemical bases for human disease All humans are diploid and thus carry two copies of every gene. All patients with Smith-Magenis syndrome are missing one copy of each of the genes located within this deletion interval. Therefore, haploinsufficiency of one or more gene(s) within the critical deletion interval in 17p11.2 will give rise to the SMS phenotype. The goals of my research are to identify the genes that map within this deletion interval and then determine if those genes require both copies to be present for normal function, because often, one copy of a gene is enough for a person to function normally. In doing this, we will have to analyze all genes found within this region, determine their deletion status in all SMS patients, and finally determine the biochemical function of the gene product. Representative Publications Elsea, S.H. and V. Leykam. 2000. HFE polymorphism and accurate diagnosis of C282Y hereditary hemochromatosis carriers. Blood Vlangos, C.N., P. Das, P.I. Patel, and

39. Liens En Déficience Intellectuelle Translate this page Langer-Giedion (Langer-Giedion syndrome) Syndrome de Prader-Willi (Prader-Willi Syndrome)Syndrome Smith-Magenis (smith-magenis syndrome) Syndrome Sturge-Weber http://www.er.uqam.ca/nobel/d341460/liens.htm

(li nks to websites on genetic syndromes and other medical conditions that may cause mental retardation Argininémie (Argininamia) Galactosémie Galactosemia Hydrocéphalie et Spina Bifida hydrocephalus and Spina Bifida Lissencephalie (lissencephaly) Neurofibromatose neurofibromatosis Paralysie Cérébrale Cerebral palsy Phénylcétonurie phenylketonuria Sclérose tubéreuse de Bourneville tuberous sclerosis Trisomies 13, 18 et 21 trisomy 13, 18, 21 Syndrome du bébé secoué (Shaken baby syndrome) Syndrome Alcolo-foetal Foetal alcohol syndrome Syndrome d'Angelman Angelman syndrome ... Syndrome "Cat-Eye" (Cat-eye syndrome) Syndrome Cornelia De Lange (Cornelia de Lange syndrome) Syndrome du Cri du Chat (Cri du chat syndrome) Syndrome de Klinefelter (Klinefelter syndrome) Syndrome Landau-Kleffner (Landau-Kleffner syndrome) Syndrome Langer-Giedion (Langer-Giedion syndrome) Syndrome de Prader-Willi (Prader-Willi Syndrome) Syndrome Smith-Magenis (Smith-Magenis syndrome) ... Syndrome Sturge-Weber (Sturge-Weber syndrome) Syndrome de Turner (Turner syndrome) Syndrome Triplo-X (Triplo-X syndrome) Syndrome de Rett (Rett syndrome) Syndrome de Williams (Williams syndrome) ... Génétique (Genetics) Autisme (autism) Argininémie (argininamia) Yahoo groups: argininémia Description de l'Argininémie (argininamia description) National urea cycle disorders foundation ... Références intéressantes Galactosémie (galactosemia) Galactosemia Ressources and information Parents of galactosemics, Inc.

40. Trisomy 8.... 1995 Translate this page Titre/Title, smith-magenis syndrome. Editeur/Editor, MacKeith Press.Lieu/Place, London, UK. Date, 1995. Collation/Series, p.186-88. http://www.cidg.com/~marienf/k/i/n/m003110.htm

# Mono.: S0002811 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Trisomy 8. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.192-93 Descripteurs/Descriptors Trisomie 8 Phenotype comportemental Coll.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

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